rs121918550 in AAAS gene and Multiple congenital anomalies

PMID 18628786 2008 Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe.

PMID 26622478 2015 Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases.

PMID 12752575 2003 Triple A syndrome: genotype-phenotype assessment.

PMID 6243664 1980 Glucocorticoid and partial mineralocorticoid deficiency associated with achalasia.

PMID 16098009 2005 Genotypic heterogeneity and clinical phenotype in triple A syndrome: a review of the NIH experience 2000-2005.

PMID 1537368 1992 Familial glucocorticoid deficiency with achalasia of the cardia associated with mixed neuropathy, long-tract degeneration and mild dementia.

rs138119149 in AARS2;TMEM151B gene and Multiple congenital anomalies

PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 22277967 2012 Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.

PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

rs267604368 in ACAN gene and Multiple congenital anomalies

PMID 12626230 2003 Osteoarthritis of the hands, hips and knees in an Australian twin sample--evidence of association with the aggrecan VNTR polymorphism.

PMID 21948754 2011 Short aggrecan gene repetitive alleles associated with lumbar degenerative disc disease in Turkish patients.

PMID 20137779 2010 A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

PMID 19110214 2009 A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

PMID 17317784 2007 Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.

PMID 24762113 2014 Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

PMID 27870580 2017 Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

PMID 18226555 2008 Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

PMID 16080123 2005 A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis.

PMID 12205105 2002 Identification of a locus for a form of spondyloepiphyseal dysplasia on chromosome 15q26.1: exclusion of aggrecan as a candidate gene.

PMID 1978986 1990 Spondyloepiphyseal dysplasia, mild autosomal dominant type is not due to primary defects of type II collagen.

rs769182426 in ACTB gene and Multiple congenital anomalies

PMID 23649928 2013 Functional analysis of a de novo ACTB mutation in a patient with atypical Baraitser-Winter syndrome.

PMID 16685646 2006 A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia.

PMID 27868373 2017 Acute myeloid leukemia in Baraitser-Winter cerebrofrontofacial syndrome.

PMID 25156961 2015 Targeted next-generation sequencing in the diagnosis of neurodevelopmental disorders.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 10411937 1999 A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection.

PMID 22495914 2012 Clinical and molecular characterization of a second case of 7p22.1 microduplication.

rs397517065 in ACTC1;LOC101928174 gene and Multiple congenital anomalies

PMID 24461919 2014 Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defect.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 17947298 2008 Alpha-cardiac actin mutations produce atrial septal defects.

PMID 17611253 2007 Mutation in the alpha-cardiac actin gene associated with apical hypertrophic cardiomyopathy, left ventricular non-compaction, and septal defects.

PMID 27139165 2016 A gain-of-function ACTC1 3'UTR mutation that introduces a miR-139-5p target site may be associated with a dominant familial atrial septal defect.

rs1555666392 in ACTG1 gene and Multiple congenital anomalies

PMID 28493397 2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.

PMID 28496999 2017 The Clinical Manifestations and Genetic Implications of Baraitser-Winter Syndrome Type 2.

PMID 9665849 1998 Domain motions in actin.

PMID 27625340 2017 Baraitser-Winter cerebrofrontofacial syndrome.

PMID 19419963 2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction.

PMID 13680526 2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26).

PMID 27240540 2016 Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

PMID 25052316 2015 Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

PMID 25624931 2015 Baraitser and Winter syndrome with growth hormone deficiency.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 26188271 2015 Rare ACTG1 variants in fetal microlissencephaly.

PMID 2395459 1990 Atomic structure of the actin:DNase I complex.

PMID 15194427 2004 A novel role for non-muscle gamma-actin in skeletal muscle sarcomere assembly.

rs587777384 in ACTG2 gene and Multiple congenital anomalies

PMID 22960657 2012 Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

PMID 19098683 2009 Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle.

PMID 25782675 2015 Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution.

PMID 26669664 2016 A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene.

PMID 24337657 2014 De novo ACTG2 mutations cause congenital distended bladder, microcolon, and intestinal hypoperistalsis.

PMID 24676022 2014 Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.

PMID 28383543 2017 Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.

rs387906589 in ACVR1 gene and Multiple congenital anomalies

PMID 26436010 2015 Clinical and Genetic Analysis of Fibrodysplasia Ossificans Progressiva: A Case Report and Literature Review.

PMID 8758048 1996 Fibrodysplasia (myositis) ossificans progressiva: clinicopathological features and natural history.

PMID 19085907 2009 Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1.

PMID 16642017 2006 A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva.

rs1555809836 in ADNP gene and Multiple congenital anomalies

PMID 25057125 2014 Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

PMID 24531329 2014 A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 28221363 2017 Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.

PMID 27031564 2016 Additional data on the clinical phenotype of Helsmoortel-Van der Aa syndrome associated with a novel truncating mutation in ADNP gene.

PMID 11013255 2001 Cloning and characterization of the human activity-dependent neuroprotective protein.

PMID 26637798 2015 Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

PMID 28191889 2017 Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

PMID 26845707 2016 Comprehensive molecular testing in patients with high functioning autism spectrum disorder.

PMID 25169753 2014 The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

rs267606653 in ALX4 gene and Multiple congenital anomalies

PMID 11017806 2000 Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome.

PMID 11137991 2001 Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

PMID 16319823 2006 Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

PMID 19692347 2009 ALX4 dysfunction disrupts craniofacial and epidermal development.

PMID 22829454 2012 ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

PMID 11106354 2000 The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500).

rs137852217 in AMER1 gene and Multiple congenital anomalies

PMID 22043478 2011 The male phenotype in osteopathia striata congenita with cranial sclerosis.

PMID 20209645 2010 Osteopathia striata with cranial sclerosis owing to WTX gene defect.

PMID 7004677 1980 Osteopathia striata with cranial sclerosis: Highly variable expression within a family including cleft palate in two neonatal cases.

PMID 19079258 2009 Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

PMID 20679664 2010 WTX mutations can occur both early and late in the pathogenesis of Wilms tumour.

PMID 28497491 2017 Male child with somatic mosaic Osteopathia Striata with Cranial Sclerosis caused by a novel pathogenic AMER1 frameshift mutation.

PMID 20950377 2011 Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis.

PMID 8723089 1996 Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree.

rs1555528558 in ANKRD11 gene and Multiple congenital anomalies

PMID 25125236 2014 Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.

PMID 28422132 2017 Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

PMID 27667800 2016 Clinical and genetic aspects of KBG syndrome.

PMID 17526801 2007 The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.

PMID 25413698 2015 Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.

PMID 15523620 2004 KBG syndrome in a cohort of Italian patients.

PMID 21782149 2011 Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.

PMID 17163996 2006 KBG syndrome.

PMID 27435318 2016 Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

PMID 15184363 2004 Identification of a novel family of ankyrin repeats containing cofactors for p160 nuclear receptor coactivators.

PMID 25424714 2015 Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.

PMID 17230487 2007 KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria.

PMID 17508425 2007 Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance.

PMID 25652421 2016 Broadening of cohesinopathies: exome sequencing identifies mutations in ANKRD11 in two patients with Cornelia de Lange-overlapping phenotype.

PMID 23494856 2013 Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndrome.

PMID 23885231 2013 Haploinsufficiency of ANKRD11 (16q24.3) Is Not Obligatorily Associated with Cognitive Impairment but Shows a Clinical Overlap with Silver-Russell Syndrome.

PMID 23184435 2013 Neurobehavioral phenotype observed in KBG syndrome caused by ANKRD11 mutations.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555904596 in ANOS1 gene and Multiple congenital anomalies

PMID 11390716 2001 Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

PMID 1922361 1991 A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules.

PMID 10340754 1999 Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome.

PMID 25300141 2014 The adhesion molecule anosmin-1 in neurology: Kallmann syndrome and beyond.

PMID 1913827 1991 The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

PMID 15471890 2004 The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

PMID 7820942 1994 Unilateral renal aplasia in X-linked Kallmann's syndrome.

rs1554231814 in ARID1B gene and Multiple congenital anomalies

PMID 16691594 2006 Autosomal dominant syndrome resembling Coffin-Siris syndrome.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 22405089 2012 Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

PMID 21801163 2012 Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.

PMID 6499251 1984 The Coffin-Siris syndrome: report of a family and further delineation.

PMID 20086098 2010 Mammalian SWI/SNF--a subunit BAF250/ARID1 is an E3 ubiquitin ligase that targets histone H2B.

PMID 22426309 2012 Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.

PMID 11170086 2001 Coffin-Siris syndrome: review and presentation of new cases from a questionnaire study.

PMID 28867767 2017 Arid1b Haploinsufficiency Causes Abnormal Brain Gene Expression and Autism-Related Behaviors in Mice.

PMID 26376624 2015 De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27389779 2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.

PMID 26395437 2016 Gonadal mosaicism in ARID1B gene causes intellectual disability and dysmorphic features in three siblings.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

PMID 24674232 2014 Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.

PMID 25674384 2015 ARID1B-mediated disorders: Mutations and possible mechanisms.

PMID 25169814 2014 The ARID1B phenotype: what we have learned so far.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 24569609 2014 Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1189399471 in ASPM gene and Multiple congenital anomalies

PMID 18452193 2008 Primary microcephaly with ASPM mutation shows simplified cortical gyration with antero-posterior gradient pre- and post-natally.

PMID 27250695 2016 Molecular and phenotypic spectrum of ASPM-related primary microcephaly: Identification of eight novel mutations.

PMID 16141009 2005 ASPM mutations identified in patients with primary microcephaly and seizures.

PMID 20978018 2010 A clinical and molecular genetic study of 112 Iranian families with primary microcephaly.

PMID 12355089 2002 ASPM is a major determinant of cerebral cortical size.

PMID 19028728 2009 The molecular landscape of ASPM mutations in primary microcephaly.

PMID 15806441 2005 Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings.

PMID 22775483 2013 Genetic heterogeneity in Pakistani microcephaly families.

PMID 19770472 2009 Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.

PMID 19332161 2009 Compound heterozygous ASPM mutations associated with microcephaly and simplified cortical gyration in a consanguineous Algerian family.

rs1427299519 in ASXL1 gene and Multiple congenital anomalies

PMID 22436456 2012 Mutations in ASXL1 are associated with poor prognosis across the spectrum of malignant myeloid diseases.

PMID 25921057 2015 Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance.

PMID 22419483 2012 Two novel patients with Bohring-Opitz syndrome caused by de novo ASXL1 mutations.

PMID 26364555 2015 Bohring-Opitz syndrome (BOS) with a new ASXL1 pathogenic variant: Review of the most prevalent molecular and phenotypic features of the syndrome.

PMID 21368916 2011 Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

rs1555742087 in ASXL3 gene and Multiple congenital anomalies

PMID 28955728 2017 Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.

PMID 27075689 2016 Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

PMID 24044690 2013 De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies.

PMID 28100473 2017 Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

PMID 23383720 2013 De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 27901041 2017 Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

PMID 26647312 2016 De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

PMID 21706002 2011 De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.

rs1555859593 in ATP1A3 gene and Multiple congenital anomalies

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

PMID 26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

PMID 22850527 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 23483595 2013 The multiple faces of the ATP1A3-related dystonic movement disorder.

rs782138777 in ATP6V1B1;VAX2 gene and Multiple congenital anomalies

PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.

PMID 7499943 1995 Hearing impairment in association with distal renal tubular acidosis among Saudi children.

PMID 23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

PMID 11045400 2000 New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

PMID 28188436 2017 Clinical and molecular aspects of distal renal tubular acidosis in children.

PMID 16611712 2006 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

PMID 16769747 2006 Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PMID 27247958 2016 Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

rs122445110 in ATRX gene and Multiple congenital anomalies

PMID 16722615 2006 Alpha thalassaemia-mental retardation, X linked.

PMID 16813605 2006 Mutations in PHD-like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome.

PMID 12673795 2003 Mutational analysis of the ATRX gene by DGGE: a powerful diagnostic approach for the ATRX syndrome.

PMID 28371217 2017 Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

PMID 28371197 2017 A novel mutation in ATRX associated with intellectual disability, syndromic features, and osteosarcoma.

PMID 12032728 2002 Alpha-thalassemia/mental retardation syndrome, X-Linked (ATR-X, MIM #301040, ATR-X/XNP/XH2 gene MIM #300032).

PMID 12858175 2003 Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the alpha-thalassemia myelodysplasia syndrome (ATMDS).

PMID 16118346 2006 X linked mental retardation: a clinical guide.

PMID 24805811 2015 Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).

PMID 24289169 2014 Mutations of codon 2085 in the helicase domain of ATRX are recurrent and cause ATRX syndrome.

PMID 19005673 2009 ATRX marks the inactive X chromosome (Xi) in somatic cells and during imprinted X chromosome inactivation in trophoblast stem cells.

PMID 18409179 2008 Mutations in the chromatin-associated protein ATRX.

PMID 21653732 2011 Role of ATRX in chromatin structure and function: implications for chromosome instability and human disease.

PMID 1415255 1992 X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

PMID 12116232 2002 Expanding phenotype of XNP mutations: mild to moderate mental retardation.

PMID 10570185 1999 Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes.

PMID 10398237 1999 Carpenter-Waziri syndrome results from a mutation in XNP.

PMID 10417298 1999 Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

PMID 11015451 2000 ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

PMID 10602370 1999 Germline and gonosomal mosaicism in the ATR-X syndrome.

PMID 11050622 2000 Holmes-Gang syndrome is allelic with XLMR-hypotonic face syndrome.

rs1555202806 in BBS10 gene and Multiple congenital anomalies

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 22713813 2013 Bardet-Biedl syndrome.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20120035 2010 Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 10874630 1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 16823392 2006 Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

PMID 11179009 2001 Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

rs1314314373 in BCL11B gene and Multiple congenital anomalies

PMID 23112752 2012 Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions.

PMID 17631058 2007 Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood.

PMID 18831712 2009 BCL11B enhances TCR/CD28-triggered NF-kappaB activation through up-regulation of Cot kinase gene expression in T-lymphocytes.

PMID 21878675 2011 The BCL11B tumor suppressor is mutated across the major molecular subtypes of T-cell acute lymphoblastic leukemia.

PMID 15465497 2004 CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis.

PMID 16091750 2005 BCL11B functionally associates with the NuRD complex in T lymphocytes to repress targeted promoter.

PMID 15664173 2005 Neuronal subtype-specific genes that control corticospinal motor neuron development in vivo.

PMID 12565905 2003 Homozygous deletions and point mutations of the Rit1/Bcl11b gene in gamma-ray induced mouse thymic lymphomas.

PMID 19251658 2009 Ctip2/Bcl11b controls ameloblast formation during mammalian odontogenesis.

PMID 21912641 2011 Genome-wide identification of Bcl11b gene targets reveals role in brain-derived neurotrophic factor signaling.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 25511173 2015 BCL11B expression in intramembranous osteogenesis during murine craniofacial suture development.

PMID 25232744 2014 De novo TBR1 mutations in sporadic autism disrupt protein functions.

PMID 23144223 2012 A network of genetic repression and derepression specifies projection fates in the developing neocortex.

PMID 19092943 2009 Dual role of COUP-TF-interacting protein 2 in epidermal homeostasis and permeability barrier formation.

PMID 26453795 2016 BCL11B regulates sutural patency in the mouse craniofacial skeleton.

PMID 22450536 2012 Role of the transcription factor Bcl11b in development and lymphomagenesis.

PMID 24458984 2014 TBR1 is the candidate gene for intellectual disability in patients with a 2q24.2 interstitial deletion.

PMID 22629441 2012 BCL11B regulates epithelial proliferation and asymmetric development of the mouse mandibular incisor.

rs1555815731 in BMP7 gene and Multiple congenital anomalies

PMID 24429398 2014 Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

PMID 17003840 2007 Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias.

PMID 20506283 2010 Bone morphogenetic protein 7 (BMP7) mutations are associated with variable ocular, brain, ear, palate, and skeletal anomalies.

rs753044214 in BPTF gene and Multiple congenital anomalies

PMID 18974875 2008 Essential role of chromatin remodeling protein Bptf in early mouse embryos and embryonic stem cells.

PMID 18794365 2008 Transcriptional regulator BPTF/FAC1 is essential for trophoblast differentiation during early mouse development.

PMID 11583616 2001 Dual functions of largest NURF subunit NURF301 in nucleosome sliding and transcription factor interactions.

PMID 22366787 2012 Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.

PMID 22166941 2012 17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

PMID 18848651 2009 A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'.

PMID 14609955 2003 Isolation of human NURF: a regulator of Engrailed gene expression.

PMID 19713963 2009 The ISWI-containing NURF complex regulates the output of the canonical Wingless pathway.

PMID 18334252 2008 The nucleosome remodeling factor (NURF) regulates genes involved in Drosophila innate immunity.

PMID 16728978 2006 Molecular basis for site-specific read-out of histone H3K4me3 by the BPTF PHD finger of NURF.

PMID 16264191 2005 The Drosophila nucleosome remodeling factor NURF is required for Ecdysteroid signaling and metamorphosis.

PMID 16774993 2006 C. elegans ISWI and NURF301 antagonize an Rb-like pathway in the determination of multiple cell fates.

PMID 24700502 2014 Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.

PMID 27513193 2017 Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.

PMID 8521501 1995 Purification and properties of an ATP-dependent nucleosome remodeling factor.

PMID 28942966 2017 Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 9225734 1997 FAC1 expression and localization in motor neurons of developing, adult, and amyotrophic lateral sclerosis spinal cord.

PMID 26014595 2015 ClinGen--the Clinical Genome Resource.

rs180177035 in BRAF gene and Multiple congenital anomalies

PMID 5771505 1969 Multiple lentigenes syndrome.

PMID 16825433 2006 The cardiofaciocutaneous syndrome.

PMID 23875798 2013 The RASopathies.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

rs1318353774 in CACNA1A gene and Multiple congenital anomalies

PMID 11179022 2001 Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2.

PMID 11564488 2001 Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

PMID 9302278 1997 Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.

PMID 9403487 1997 Spinocerebellar ataxia type 6: gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset.

PMID 9559993 1998 SCA6 mutation analysis in a large cohort of the Japanese patients with late-onset pure cerebellar ataxia.

PMID 27476654 2016 De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

PMID 15483044 2004 Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia.

PMID 26814174 2016 Eye movement disorders are an early manifestation of CACNA1A mutations in children.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23771276 2013 The International Classification of Headache Disorders, 3rd edition (beta version).

PMID 9436730 1998 Spinocerebellar ataxia type 6: genotype and phenotype in German kindreds.

PMID 15710862 2005 Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia.

PMID 28742085 2017 Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially.

PMID 25735478 2015 CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.

PMID 20129625 2010 Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2.

PMID 8988170 1997 Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.

PMID 15300451 2004 Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2.

PMID 9005860 1997 Familial episodic ataxia: clinical heterogeneity in four families linked to chromosome 19p.

PMID 25758715 2015 Prevalence of inherited neurotransmitter disorders in patients with movement disorders and epilepsy: a retrospective cohort study.

PMID 8898206 1996 Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.

PMID 12707077 2003 Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family.

PMID 11723274 2001 Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.

PMID 17575281 2007 Primary episodic ataxias: diagnosis, pathogenesis and treatment.

PMID 20156848 2010 Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy.

PMID 9879686 1998 Molecular analysis of a de novo mutation for spinocerebellar ataxia type 6 and (CAG)n repeat units in normal elder controls.

PMID 23831250 2013 Possible effect of corticoids on hemiplegic attacks in severe hemiplegic migraine.

PMID 18940563 2008 Stepwise developmental regression associated with novel CACNA1A mutation.

PMID 16595610 2006 C-termini of P/Q-type Ca2+ channel alpha1A subunits translocate to nuclei and promote polyglutamine-mediated toxicity.

PMID 3358708 1988 Magnetic resonance imaging in familial paroxysmal ataxia.

PMID 18541804 2008 Large CACNA1A deletion in a family with episodic ataxia type 2.

PMID 18498393 2008 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood.

PMID 19484318 2009 The ataxic Cacna1a-mutant mouse rolling nagoya: an overview of neuromorphological and electrophysiological findings.

PMID 16325861 2006 Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.

PMID 17495624 2007 Migraine: gene mutations and functional consequences.

PMID 23441182 2013 Identification of a novel nonsense mutation p.Tyr1957Ter of CACNA1A in a Chinese family with episodic ataxia 2.

PMID 17142831 2007 The genetic spectrum of a population-based sample of familial hemiplegic migraine.

PMID 20682717 2010 A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

PMID 19811514 2010 Sporadic hemiplegic migraine and delayed cerebral oedema after minor head trauma: a novel de novo CACNA1A gene mutation.

PMID 16043807 2005 New calcium channel mutations predict aberrant RNA splicing in episodic ataxia.

PMID 14718690 2004 Clinical spectrum of episodic ataxia type 2.

PMID 1564484 1992 Familial paroxysmal ataxia: report of a family.

PMID 20233618 2010 A pure cerebellar syndrome with corresponding ponto-cerebellar atrophy in acquired hepatocerebral degeneration.

PMID 20204399 2010 CaV2.1 channelopathies.

PMID 20097664 2010 Congenital ataxia, mental retardation, and dyskinesia associated with a novel CACNA1A mutation.

PMID 22249839 2012 Neuronal P/Q-type calcium channel dysfunction in inherited disorders of the CNS.

PMID 21183743 2011 Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamil.

rs267606701 in CANT1 gene and Multiple congenital anomalies

PMID 22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

PMID 25486376 2015 A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

PMID 21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.

rs1555977248 in CASK gene and Multiple congenital anomalies

PMID 22709267 2012 CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.

PMID 23662938 2013 Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.

PMID 23623288 2014 A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.

PMID 22452838 2012 Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.

PMID 21954287 2011 Phenotypic spectrum associated with CASK loss-of-function mutations.

PMID 21498811 2011 MAGUKs, synaptic development, and synaptic plasticity.

PMID 24781210 2014 The genetic landscape of infantile spasms.

PMID 19377476 2009 A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

PMID 25886057 2015 Phenotypic and molecular insights into CASK-related disorders in males.

PMID 19165920 2008 Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.

PMID 20029458 2010 CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 24768552 2014 Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

rs587777621 in CCND2 gene and Multiple congenital anomalies

PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.

rs797044870 in CDC42 gene and Multiple congenital anomalies

PMID 14561717 2003 Structural basis of the Rho GTPase signaling.

PMID 11864373 2002 The evolutionary history of effectors downstream of Cdc42 and Rac.

PMID 12195014 2002 The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

PMID 15269155 2004 Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer.

PMID 17540168 2007 GEFs and GAPs: critical elements in the control of small G proteins.

PMID 12478284 2002 Rho GTPases in cell biology.

PMID 15884002 2005 Rho GTPases, dendritic structure, and mental retardation.

PMID 11149925 2001 Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.

PMID 12915473 2003 Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

PMID 17918734 2007 Monosomy 1p36 deletion syndrome.

PMID 16949823 2006 Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking.

PMID 11025683 2000 Function of Rho family proteins in actin dynamics during phagocytosis and engulfment.

PMID 17050694 2006 Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly.

PMID 10898977 2000 Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.

PMID 22266952 2012 Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines.

PMID 23382385 2013 Characterization of a Cdc42 protein inhibitor and its use as a molecular probe.

PMID 17970806 2007 Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma.

PMID 19700661 2009 Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways.

PMID 21423166 2011 Local, persistent activation of Rho GTPases during plasticity of single dendritic spines.

PMID 12687501 2003 Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

PMID 7473653 1995 Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

PMID 24059268 2013 Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

PMID 21515363 2011 Cdc42 in oncogenic transformation, invasion, and tumorigenesis.

PMID 8103286 1993 Clinical and molecular analyses of deletion 3p25-pter syndrome.

PMID 18245432 2008 Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

PMID 18511961 2008 Molecular basis of dendritic arborization.

PMID 20633244 2010 Cdc42 and vesicle trafficking in polarized cells.

PMID 20878268 2010 RHO GTPase signaling for axon extension: is prenylation important?

PMID 19092927 2008 Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation.

rs750803248 in CDH23 gene and Multiple congenital anomalies

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

rs866435331 in CDH23;C10orf105 gene and Multiple congenital anomalies

PMID 11138009 2001 Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

PMID 11090341 2001 Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

rs878853160 in CDK13 gene and Multiple congenital anomalies

PMID 28807008 2017 Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders.

PMID 29222009 2018 Redefining the phenotypic spectrum of de novo heterozygous CDK13 variants: Three patients without cardiac defects.

PMID 29021403 2018 Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 26539891 2015 Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 24999027 2014 Cdk12 and Cdk13 regulate axonal elongation through a common signaling pathway that modulates Cdk5 expression.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

rs797044962 in CHAMP1 gene and Multiple congenital anomalies

PMID 21063390 2011 CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment.

PMID 27148580 2016 De novo pathogenic variants in CHAMP1 are associated with global developmental delay, intellectual disability, and dysmorphic facial features.

PMID 26340335 2015 De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26751395 2016 De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

rs1377989582 in CHD4 gene and Multiple congenital anomalies

PMID 20693977 2010 Regulation of DNA-damage responses and cell-cycle progression by the chromatin remodelling factor CHD4.

PMID 22302795 2012 The nucleosome remodeling and deacetylase chromatin remodeling (NuRD) complex is required for peripheral nerve myelination.

PMID 27418512 2016 Chromatin remodeling inactivates activity genes and regulates neural coding.

PMID 24348274 2013 The NuRD chromatin-remodeling enzyme CHD4 promotes embryonic vascular integrity by transcriptionally regulating extracellular matrix proteolysis.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 27479907 2016 Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

PMID 25849321 2016 Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database.

PMID 27616479 2016 De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms.

PMID 26116663 2015 Constraint of gene expression by the chromatin remodelling protein CHD4 facilitates lineage specification.

rs1064793083 in CHD7 gene and Multiple congenital anomalies

PMID 17299439 2007 CHARGE syndrome: an update.

PMID 16400610 2006 Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.

PMID 17661815 2007 Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

PMID 18834967 2008 Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

PMID 16155193 2006 CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene.

PMID 21532573 2011 Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

PMID 22461308 2012 Mutation update on the CHD7 gene involved in CHARGE syndrome.

PMID 21378379 2011 CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 20130577 2010 CHD7 cooperates with PBAF to control multipotent neural crest formation.

PMID 26590800 2016 Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria.

PMID 15666308 2005 Updated diagnostic criteria for CHARGE syndrome: a proposal.

PMID 20186815 2010 Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome.

PMID 25472840 2014 Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22539353 2012 A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.

PMID 15300250 2004 Mutations in a new member of the chromodomain gene family cause CHARGE syndrome.

PMID 10590394 1999 CHARGE Association in newborns: a registry-based study.

PMID 14626219 2003 Quantitative analysis of limb anomalies in CHARGE syndrome: correlation with diagnosis and characteristic CHARGE anomalies.

PMID 23883829 2013 CHD7 gene polymorphisms and familial idiopathic scoliosis.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555314736 in CHD8 gene and Multiple congenital anomalies

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24998929 2014 Disruptive CHD8 mutations define a subtype of autism early in development.

PMID 23160955 2012 Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.

PMID 22083958 2012 Histone H1 recruitment by CHD8 is essential for suppression of the Wnt-β-catenin signaling pathway.

PMID 26789910 2016 A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 23835524 2013 CHD8 is an independent prognostic indicator that regulates Wnt/β-catenin signaling and the cell cycle in gastric cancer.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 18378692 2008 CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes.

PMID 21447119 2011 Genetic and expressional alterations of CHD genes in gastric and colorectal cancers.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

rs1060502716 in CHEK2 gene and Multiple congenital anomalies

PMID 22058428 2011 CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women.

PMID 25467110 2015 Beyond BRCA: new hereditary breast cancer susceptibility genes.

PMID 26506619 2015 Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma.

PMID 15122511 2004 CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies.

PMID 11719428 2001 Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

PMID 23296741 2013 The risk of gastric cancer in carriers of CHEK2 mutations.

PMID 18004398 2007 CHK2 kinase: cancer susceptibility and cancer therapy - two sides of the same coin?

PMID 19338683 2009 The contribution of CHEK2 to the TP53-negative Li-Fraumeni phenotype.

PMID 18759107 2009 CHEK2 1100delC and male breast cancer in the Netherlands.

PMID 16551709 2006 Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer.

PMID 15492928 2004 CHEK2 is a multiorgan cancer susceptibility gene.

PMID 16078115 2005 CHEK2 mutations in primary glioblastomas.

PMID 21807500 2011 Meta-analysis of CHEK2 1100delC variant and colorectal cancer susceptibility.

PMID 21876083 2011 Risk of breast cancer in women with a CHEK2 mutation with and without a family history of breast cancer.

rs764358419 in CHMP1A gene and Multiple congenital anomalies

PMID 11559747 2001 CHMP1 is a novel nuclear matrix protein affecting chromatin structure and cell-cycle progression.

PMID 11559748 2001 CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

PMID 23023333 2012 CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.

rs797044677 in CHRNG gene and Multiple congenital anomalies

PMID 24038971 2013 Neuromotor synapses in Escobar syndrome.

PMID 16826531 2006 Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome.

PMID 22167768 2012 CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.

PMID 27245440 2016 Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

PMID 25957469 2015 Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

rs1555087619 in CLPB gene and Multiple congenital anomalies

PMID 25597510 2015 CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder.

PMID 25597511 2015 CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.

PMID 25650066 2015 Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.

PMID 25595726 2015 Bi-allelic CLPB mutations cause cataract, renal cysts, nephrocalcinosis and 3-methylglutaconic aciduria, a novel disorder of mitochondrial protein disaggregation.

rs1553234339 in COL11A1 gene and Multiple congenital anomalies

PMID 19449424 2009 Mosaicism in Marshall syndrome.

PMID 17236192 2007 A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies.

PMID 9529347 1998 Marshall syndrome associated with a splicing defect at the COL11A1 locus.

PMID 25240749 2014 Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing.

PMID 21668896 2012 Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations.

PMID 21035103 2010 Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

rs797044915 in COL11A2 gene and Multiple congenital anomalies

PMID 9506662 1998 Stickler syndrome without eye involvement is caused by mutations in COL11A2, the gene encoding the alpha2(XI) chain of type XI collagen.

PMID 9805126 1998 Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome).

PMID 22246659 2012 Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.

PMID 2463256 1989 Cartilage contains mixed fibrils of collagen types II, IX, and XI.

PMID 7859284 1995 Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus.

PMID 9188673 1997 Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

PMID 813535 1975 The Weissenbacher-Zweymuller syndrome of micrognathia and rhizomelic chondrodysplasia at birth with subsequent normal growth.

PMID 8838804 1996 The human alpha 2(XI) collagen gene (COL11A2): completion of coding information, identification of the promoter sequence, and precise localization within the major histocompatibility complex reveal overlap with the KE5 gene.

PMID 2760050 1989 The human alpha 2(XI) collagen (COL11A2) chain. Molecular cloning of cDNA and genomic DNA reveals characteristics of a fibrillar collagen with differences in genomic organization.

PMID 10581026 1999 Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13).

PMID 10677296 2000 Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

PMID 10733181 2000 The phenotype of DFNA13/COL11A2: nonsyndromic autosomal dominant mid-frequency and high-frequency sensorineural hearing impairment.

PMID 10486316 1999 Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes.

PMID 16637051 2006 Oto-spondylo-megaepiphyseal dysplasia (OSMED): clinical and radiological findings in sibs homozygous for premature stop codon mutation in the COL11A2 gene.

PMID 16033917 2005 Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus.

PMID 21671392 2011 A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndrome.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

rs1554396271 in COL1A2 gene and Multiple congenital anomalies

PMID 9557891 1998 Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

PMID 25944380 2015 Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta.

PMID 28625337 2018 Osteogenesis imperfecta - A clinical update.

PMID 458828 1979 Genetic heterogeneity in osteogenesis imperfecta.

PMID 8071956 1994 The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene.

PMID 21912751 2011 Genotype-phenotype correlations in autosomal dominant osteogenesis imperfecta.

PMID 9295084 1997 Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen.

PMID 2824475 1987 Organization of the human pro-alpha 2(I) collagen gene.

PMID 28916840 2018 A novel COL1A2 C-propeptide cleavage site mutation causing high bone mass osteogenesis imperfecta with a regional distribution pattern.

PMID 24668929 2014 Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta.

PMID 15077201 2004 Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.

PMID 2010058 1991 Mutations in collagen genes: causes of rare and some common diseases in humans.

PMID 24140640 2013 Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PMID 21344539 2011 COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PMID 21801164 2012 Ehlers-Danlos arthrochalasia type (VIIA-B)--expanding the phenotype: from prenatal life through adulthood.

rs1554787366 in COL27A1 gene and Multiple congenital anomalies

PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.

PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.

PMID 12766169 2003 A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.

PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

PMID 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.

PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.

PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

PMID 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

PMID 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

PMID 15922909 2005 The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.

PMID 17693149 2007 Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.

PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.

rs1554829390 in COL27A1;LOC105376224 gene and Multiple congenital anomalies

PMID 12714037 2003 Identification, characterization and expression analysis of a new fibrillar collagen gene, COL27A1.

PMID 17331945 2007 Collagen XXVII is developmentally regulated and forms thin fibrillar structures distinct from those of classical vertebrate fibrillar collagens.

PMID 8001137 1994 Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9.

PMID 12766169 2003 A novel and highly conserved collagen (pro(alpha)1(XXVII)) with a unique expression pattern and unusual molecular characteristics establishes a new clade within the vertebrate fibrillar collagen family.

PMID 22206015 2011 Collagen XXVII organises the pericellular matrix in the growth plate.

PMID 15922909 2005 The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.

PMID 17693149 2007 Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.

PMID 24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.

PMID 20041163 2009 Critical early roles for col27a1a and col27a1b in zebrafish notochord morphogenesis, vertebral mineralization and post-embryonic axial growth.

PMID 19414009 2009 The transcription factor Lc-Maf participates in Col27a1 regulation during chondrocyte maturation.

PMID 19204719 2009 Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations.

PMID 7990924 1994 Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene.

PMID 28276056 2017 Second family provides further evidence for causation of Steel syndrome by biallelic mutations in COL27A1.

rs121912880 in COL2A1 gene and Multiple congenital anomalies

PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

rs1045118320 in COQ4 gene and Multiple congenital anomalies

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.

rs1554117456 in CPLANE1 gene and Multiple congenital anomalies

PMID 25407461 2015 Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

PMID 24178751 2014 C5orf42 is the major gene responsible for OFD syndrome type VI.

PMID 25846457 2015 Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI.

PMID 21679365 2011 The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.

PMID 22425360 2012 Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.

PMID 22236771 2012 Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

rs1555473499 in CREBBP gene and Multiple congenital anomalies

PMID 25599811 2015 Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

PMID 25108505 2015 Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

PMID 16783566 2006 Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.

PMID 27311832 2016 CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 10699051 2000 Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.

PMID 25388907 2015 Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 12070251 2002 Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 26603346 2016 Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

PMID 26956253 2016 Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

PMID 26788536 2016 CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 16021471 2005 DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.

PMID 27342041 2016 Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.

PMID 27165009 2016 Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS.

rs917027829 in CSF1R gene and Multiple congenital anomalies

PMID 22843259 2012 MRI characteristics and scoring in HDLS due to CSF1R gene mutations.

PMID 23649896 2013 Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

PMID 22197934 2011 Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids.

PMID 18794495 2008 Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids.

PMID 19487654 2009 Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity?

PMID 24145216 2013 CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function.

PMID 22098561 2012 Update of the original HDLS kindred: divergent clinical courses.

PMID 23408870 2013 CSF1R mutations link POLD and HDLS as a single disease entity.

PMID 23411710 2013 Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R.

PMID 23816250 2013 A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids.

PMID 24336230 2014 Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS.

PMID 8981357 1997 Biology and action of colony--stimulating factor-1.

PMID 6595937 1984 Hereditary diffuse leucoencephalopathy with spheroids.

rs1555535739 in CTCF gene and Multiple congenital anomalies

PMID 19563753 2009 CTCF: master weaver of the genome.

PMID 28619046 2017 Identification of a novel CTCF mutation responsible for syndromic intellectual disability - a case report.

PMID 18654629 2008 The insulator binding protein CTCF positions 20 nucleosomes around its binding sites across the human genome.

PMID 23746550 2013 De novo mutations in the genome organizer CTCF cause intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 22354838 2012 CTCF: insights into insulator function during development.

rs1553631770 in CTNNB1 gene and Multiple congenital anomalies

PMID 21903672 2011 Maintaining embryonic stem cell pluripotency with Wnt signaling.

PMID 22110128 2012 Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358.

PMID 24431282 2014 Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.

PMID 23499309 2013 Mutations in WNT1 cause different forms of bone fragility.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 9060476 1997 Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 18334222 2008 Crystal structure of a full-length beta-catenin.

PMID 8582267 1995 Lack of beta-catenin affects mouse development at gastrulation.

PMID 24668549 2014 A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.

PMID 8227220 1993 The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 1999432 1991 Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure.

PMID 28575650 2017 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.

PMID 27915094 2017 Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.

PMID 15866164 2005 Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.

PMID 22682243 2012 Wnt/β-catenin signaling and disease.

PMID 24614104 2014 Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 15866163 2005 Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.

PMID 15713948 2005 Wnt/beta-catenin pathway.

rs1553521389 in CUL3 gene and Multiple congenital anomalies

PMID 15843622 2005 Requirement of Cul3 for axonal arborization and dendritic elaboration in Drosophila mushroom body neurons.

PMID 24266877 2014 Detection of mutations in KLHL3 and CUL3 in families with FHHt (familial hyperkalaemic hypertension or Gordon's syndrome).

PMID 18687424 2009 Gene expression alterations in cryptorchid males using spermatozoal microarray analysis.

PMID 16162871 2006 Cullin3 is a KLHL10-interacting protein preferentially expressed during late spermiogenesis.

PMID 20065088 2010 Drosophila Kelch functions with Cullin-3 to organize the ring canal actin cytoskeleton.

PMID 16595883 2006 The ubiquitin-proteasome system.

PMID 15136734 2004 Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice.

PMID 10500095 1999 Cullin-3 targets cyclin E for ubiquitination and controls S phase in mammalian cells.

PMID 18927510 2008 The cullin7 E3 ubiquitin ligase: a novel player in growth control.

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 17559828 2007 Suppression of Hedgehog signaling by Cul3 ligases in proliferation control of retinal precursors.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25969726 2015 Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

PMID 27824329 2016 De novo genic mutations among a Chinese autism spectrum disorder cohort.

PMID 3002982 1986 Syndrome of hypertension and hyperkalemia with normal glomerular filtration rate.

PMID 24959344 2014 Kelch proteins: emerging roles in skeletal muscle development and diseases.

PMID 15511641 2004 Cullin-3 regulates pattern formation, external sensory organ development and cell survival during Drosophila development.

PMID 15071497 2004 Cullin-based ubiquitin ligases: Cul3-BTB complexes join the family.

PMID 22266938 2012 Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.

PMID 21554755 2011 The cullin protein family.

PMID 20880695 2010 Structural assembly of cullin-RING ubiquitin ligase complexes.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 23676014 2013 Update on the Kelch-like (KLHL) gene family.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 22914163 2012 Rate of de novo mutations and the importance of father's age to disease risk.

rs6467 in CYP21A2 gene and Multiple congenital anomalies

PMID 12930931 2003 Congenital adrenal hyperplasia.

PMID 10857554 2000 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PMID 15964450 2005 Congenital adrenal hyperplasia.

PMID 24904866 2013 Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center.

PMID 25041270 2015 The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene.

PMID 24778650 2014 Prevalence of nonclassic congenital adrenal hyperplasia in Turkish children presenting with premature pubarche, hirsutism, or oligomenorrhoea.

PMID 9521938 1998 Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

PMID 23692712 2013 Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review.

PMID 23359698 2013 Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.

rs1057519430 in DDX3X gene and Multiple congenital anomalies

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

rs1555950665 in DDX3X;LOC105373184;LOC107985678 gene and Multiple congenital anomalies

PMID 18463129 2008 Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

PMID 15772666 2005 X-inactivation profile reveals extensive variability in X-linked gene expression in females.

PMID 22722829 2012 Novel mutations target distinct subgroups of medulloblastoma.

PMID 16518819 2006 Divergent roles of the DEAD-box protein BS-PL10, the urochordate homologue of human DDX3 and DDX3Y proteins, in colony astogeny and ontogeny.

PMID 17979704 2007 The DDX3 subfamily of the DEAD box helicases: divergent roles as unveiled by studying different organisms and in vitro assays.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 15572142 2005 Belle is a Drosophila DEAD-box protein required for viability and in the germ line.

PMID 25326669 2015 De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.

PMID 25050112 2014 DDX3X regulates cell survival and cell cycle during mouse early embryonic development.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 9381176 1997 Functional coherence of the human Y chromosome.

PMID 28371085 2017 DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.

PMID 25724843 2015 Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 23413191 2013 RNA helicase DDX3 is a regulatory subunit of casein kinase 1 in Wnt-β-catenin signaling.

PMID 26235985 2015 Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

rs1057517825 in DERL3;SMARCB1 gene and Multiple congenital anomalies

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 25168959 2014 Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.

PMID 23906836 2013 A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

rs1331331095 in DHCR7 gene and Multiple congenital anomalies

PMID 9024557 1997 Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism.

PMID 23293579 2012 Mutational spectrum of smith-lemli-opitz syndrome patients in hungary.

PMID 18285838 2008 Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management.

PMID 23042628 2012 Mutational spectrum of Smith-Lemli-Opitz syndrome.

PMID 15286151 2004 Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome.

PMID 10677299 2000 Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

PMID 22438180 2012 Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

PMID 10807690 2000 The Smith-Lemli-Opitz syndrome.

PMID 23918729 2013 Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

PMID 11241839 2001 Mutations in the human DHCR7 gene.

PMID 11562938 2001 Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

PMID 21777499 2011 Smith-Lemli-Opitz syndrome.

PMID 15464432 2005 Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.

PMID 16906538 2006 DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

PMID 8259166 1994 Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome.

PMID 16761297 2006 The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.

rs1555393172 in DLL4 gene and Multiple congenital anomalies

PMID 15466159 2004 Dosage-sensitive requirement for mouse Dll4 in artery development.

PMID 10837024 2000 Dll4, a novel Notch ligand expressed in arterial endothelium.

PMID 12482957 2003 Regulation of Notch1 and Dll4 by vascular endothelial growth factor in arterial endothelial cells: implications for modulating arteriogenesis and angiogenesis.

PMID 15817497 2005 Notch signaling, brain development, and human disease.

PMID 11585794 2001 Notch signaling is required for arterial-venous differentiation during embryonic vascular development.

PMID 12574630 2003 Angiogenesis-independent endothelial protection of liver: role of VEGFR-1.

PMID 15520367 2004 Haploinsufficiency of delta-like 4 ligand results in embryonic lethality due to major defects in arterial and vascular development.

PMID 17336907 2007 Notch signaling is essential for ventricular chamber development.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 20147986 2010 Chronic DLL4 blockade induces vascular neoplasms.

PMID 17311993 2007 Inhibition of Dll4-mediated signaling induces proliferation of immature vessels and results in poor tissue perfusion.

PMID 17728344 2007 A regulatory network involving Foxn4, Mash1 and delta-like 4/Notch1 generates V2a and V2b spinal interneurons from a common progenitor pool.

PMID 21092311 2010 Combination of Dll4/Notch and Ephrin-B2/EphB4 targeted therapy is highly effective in disrupting tumor angiogenesis.

PMID 8756291 1996 The intracellular deletions of Delta and Serrate define dominant negative forms of the Drosophila Notch ligands.

PMID 8794055 1996 Neurogenic genes and vertebrate neurogenesis.

PMID 15923152 2005 Expression of Dll4 during mouse embryogenesis suggests multiple developmental roles.

PMID 15466160 2004 Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants.

PMID 23570941 2013 Notch signaling in the brain: in good and bad times.

PMID 16773578 2006 NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

PMID 19369401 2009 Notch signaling controls liver development by regulating biliary differentiation.

PMID 17296941 2007 The Notch ligand Delta-like 4 negatively regulates endothelial tip cell formation and vessel branching.

rs116128702 in DNAH5 gene and Multiple congenital anomalies

PMID 23261302 2013 Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 19357118 2009 Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 12615011 2003 Lateralization defects and ciliary dyskinesia: lessons from algae.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.

rs147001633 in DNMT3A gene and Multiple congenital anomalies

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

rs767858333 in DOCK1 gene and Multiple congenital anomalies

PMID 18591431 2008 Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway.

PMID 18820033 2008 The atypical Rac activator Dock180 (Dock1) regulates myoblast fusion in vivo.

PMID 18332221 2008 Myoblasts and macrophages share molecular components that contribute to cell-cell fusion.

PMID 27662902 2017 RHOG-DOCK1-RAC1 Signaling Axis Is Perturbed in DHEA-Induced Polycystic Ovary in Rat Model.

PMID 17670792 2007 A role for the Myoblast city homologues Dock1 and Dock5 and the adaptor proteins Crk and Crk-like in zebrafish myoblast fusion.

PMID 17765544 2007 GEF what? Dock180 and related proteins help Rac to polarize cells in new ways.

PMID 20829512 2010 DOCK180 is a Rac activator that regulates cardiovascular development by acting downstream of CXCR4.

PMID 26527617 2016 Sorbs1 and -2 Interact with CrkL and Are Required for Acetylcholine Receptor Cluster Formation.

PMID 25022758 2014 Dock-family exchange factors in cell migration and disease.

PMID 3372592 1988 A role for acetylcholine receptors in the fusion of chick myoblasts.

rs199470477 in DUPD1;KAT6B gene and Multiple congenital anomalies

PMID 23436491 2013 De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.

PMID 29226580 2018 A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders.

PMID 22715153 2012 The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.

PMID 22265014 2012 Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.

PMID 28696035 2017 Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.

PMID 26334766 2015 A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing.

PMID 25424711 2015 Further delineation of the KAT6B molecular and phenotypic spectrum.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

rs1553173425 in DVL1 gene and Multiple congenital anomalies

PMID 17256787 2007 Clinical characterization of autosomal dominant and recessive variants of Robinow syndrome.

PMID 25817014 2015 Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

PMID 25817016 2015 DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.

rs1555990751 in DYRK1A gene and Multiple congenital anomalies

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

rs1555984102 in DYRK1A;LOC105372797 gene and Multiple congenital anomalies

PMID 12814361 2003 Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.

PMID 18364031 2008 The spatio-temporal and subcellular expression of the candidate Down syndrome gene Mnb/Dyrk1A in the developing mouse brain suggests distinct sequential roles in neuronal development.

PMID 19383720 2009 Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.

PMID 17237124 2007 Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.

PMID 18405873 2008 Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

PMID 12192061 2002 Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.

PMID 19685005 2009 Function and regulation of Dyrk1A: towards understanding Down syndrome.

PMID 25920557 2015 Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.

PMID 2143053 1990 Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.

PMID 21204217 2011 Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.

PMID 25707398 2016 Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.

PMID 21294719 2011 Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.

PMID 22918246 2012 Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.

PMID 23099646 2012 The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 23512985 2013 Triplication of DYRK1A causes retinal structural and functional alterations in Down syndrome.

PMID 26922654 2016 Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.

PMID 25944381 2015 DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.

rs1341894581 in ECEL1 gene and Multiple congenital anomalies

PMID 25099528 2014 Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

PMID 23236030 2013 The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

PMID 23261301 2013 Mutations in ECEL1 cause distal arthrogryposis type 5D.

PMID 24782201 2014 Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

PMID 25708584 2015 ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

rs777218310 in ECHS1 gene and Multiple congenital anomalies

PMID 28755360 2018 Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-Up.

PMID 26081110 2015 Clinical and biochemical characterization of four patients with mutations in ECHS1.

PMID 28202214 2017 Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.

PMID 27090768 2016 Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency.

PMID 26000322 2015 Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.

PMID 28039521 2017 ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesias: case presentation and initial benefit of intervention.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 28409271 2017 Unique presentation of cutis laxa with Leigh-like syndrome due to ECHS1 deficiency.

PMID 26099313 2015 Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome.

PMID 26920905 2016 ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.

PMID 27221955 2016 Novel ECHS1 mutation in an Emirati neonate with severe metabolic acidosis.

PMID 27905109 2017 A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

PMID 25125611 2014 ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism.

PMID 25393721 2015 ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome.

rs1556105875 in EFNB1 gene and Multiple congenital anomalies

PMID 15166289 2004 Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.

PMID 15363810 2004 Eph/ephrin signaling in morphogenesis, neural development and plasticity.

PMID 8669441 1996 Craniofrontonasal syndrome: study of 41 patients.

PMID 24281372 2014 Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.

PMID 25486017 2015 Report of a family with craniofrontonasal syndrome.

PMID 26180728 2015 Isolated Sagittal Synostosis in a Boy with Craniofrontonasal Dysplasia and a Novel EFNB1 Mutation.

PMID 28140668 2018 A Family with Craniofrontonasal Syndrome: The First Report of Familial Cases of Craniofrontonasal Syndrome with Bilateral Cleft Lip and Palate.

PMID 23335590 2013 Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

PMID 16143553 2006 Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.

PMID 16685650 2006 The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.

PMID 15124102 2004 Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.

PMID 15959873 2005 Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).

rs1555564006 in EFTUD2 gene and Multiple congenital anomalies

PMID 26507355 2016 Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

PMID 25735261 2015 Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

PMID 25790162 2016 Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

PMID 16760738 2006 A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

PMID 22305528 2012 Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

PMID 24266672 2015 Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

PMID 23188108 2012 EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

PMID 23879989 2013 Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

PMID 26118977 2015 EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 27670155 2017 Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

PMID 24470203 2014 Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

PMID 22581936 2012 Clinical application of exome sequencing in undiagnosed genetic conditions.

PMID 19921636 2009 Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

PMID 23239648 2013 """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."

rs1555907749 in EP300 gene and Multiple congenital anomalies

PMID 26279656 2015 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome.

PMID 13983033 1963 Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome.

PMID 12114483 2002 Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

PMID 27465822 2016 Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.

PMID 25712426 2015 Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.

PMID 19353645 2009 Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

PMID 24476420 2015 Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

PMID 16428436 2006 Conditional knockout mice reveal distinct functions for the global transcriptional coactivators CBP and p300 in T-cell development.

PMID 15706485 2005 Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PMID 24352918 2014 Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome.

PMID 26486927 2016 From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks.

PMID 20717166 2011 Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

PMID 17220215 2007 Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

PMID 11331617 2001 Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

PMID 17299436 2007 Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

PMID 20014264 2010 Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.

PMID 27648933 2016 Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

PMID 18792986 2008 Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

PMID 27964710 2016 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant.

rs786205154 in ETV6 gene and Multiple congenital anomalies

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs113001196 in FBN1 gene and Multiple congenital anomalies

PMID 23897642 2013 Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome.

PMID 24665001 2014 De novo heterozygous FBN1 mutations in the extreme C-terminal region cause progeroid fibrillinopathy.

PMID 23278365 2013 Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

PMID 21683322 2011 Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

PMID 23133647 2012 Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions.

PMID 21594993 2011 Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

PMID 26787436 2016 Genotype impacts survival in Marfan syndrome.

PMID 24635535 2015 The revised ghent nosology; reclassifying isolated ectopia lentis.

PMID 25979247 2015 A microfibril assembly assay identifies different mechanisms of dominance underlying Marfan syndrome, stiff skin syndrome and acromelic dysplasias.

PMID 8563763 1996 Mutation in fibrillin-1 and the Marfanoid-craniosynostosis (Shprintzen-Goldberg) syndrome.

PMID 20591885 2010 The revised Ghent nosology for the Marfan syndrome.

PMID 24039054 2013 Severe congenital lipodystrophy and a progeroid appearance: Mutation in the penultimate exon of FBN1 causing a recognizable phenotype.

PMID 16333834 2006 Molecular pathology of Shprintzen-Goldberg syndrome.

PMID 17701892 2007 Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

PMID 15241795 2004 Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

PMID 8941093 1996 Fibrillin-1 (FBN1) mutations in patients with thoracic aortic aneurysms.

PMID 3536967 1986 Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils.

PMID 25101912 2015 Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.

PMID 20375004 2010 Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.

PMID 16273536 2005 Genetic basis of thoracic aortic aneurysms and aortic dissections.

PMID 11700157 2001 Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome.

PMID 26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.

PMID 20979188 2010 Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.

PMID 21594992 2011 Further evidence for a marfanoid syndrome with neonatal progeroid features and severe generalized lipodystrophy due to frameshift mutations near the 3' end of the FBN1 gene.

PMID 25736269 2015 FBN1 contributing to familial congenital diaphragmatic hernia.

PMID 12651868 2003 Defective secretion of recombinant fragments of fibrillin-1: implications of protein misfolding for the pathogenesis of Marfan syndrome and related disorders.

PMID 16571647 2006 The molecular genetics of Marfan syndrome and related disorders.

PMID 14598350 2003 Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.

PMID 17253931 2006 Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

rs1557189592 in FGD1 gene and Multiple congenital anomalies

PMID 19110080 2009 First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

PMID 22211847 2012 Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene.

PMID 24307393 2014 Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection.

PMID 16353258 2006 Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene.

PMID 17152066 2007 Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene.

PMID 15809997 2005 Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q).

PMID 14560308 2004 Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients.

PMID 16688726 2006 Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations.

PMID 11940089 2002 Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene.

PMID 20082460 2010 Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene.

PMID 8969170 1996 The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor.

rs121918490 in FGFR2 gene and Multiple congenital anomalies

PMID 15883293 2005 Limbal stem cell deficiency associated with LADD syndrome.

PMID 10735635 2000 Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery.

PMID 1519658 1992 Beare-Stevenson cutis gyrata syndrome.

PMID 10633130 2000 Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

PMID 10712195 2000 Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome.

PMID 11343323 2001 "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred."

PMID 15793702 2005 Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 16501574 2006 Mutations in different components of FGF signaling in LADD syndrome.

PMID 10067911 1999 Clinical variability in patients with Apert's syndrome.

PMID 16061565 2005 Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 7573032 1995 Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.

PMID 8434615 1993 Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis.

PMID 25245177 2014 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 25209230 2014 Non surgical treatment of Crouzon syndrome.

PMID 18726952 2009 Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily.

PMID 4078868 1985 Phenotypic variation in LADD syndrome.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 28901406 2017 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 16740155 2006 Pfeiffer syndrome.

PMID 19610084 2009 Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome.

PMID 22387015 2012 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.

PMID 25343114 2013 The molecular and cellular basis of Apert syndrome.

rs797044852 in FKBP10 gene and Multiple congenital anomalies

PMID 20362275 2010 Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.

PMID 20696291 2010 FKBP10 and Bruck syndrome: phenotypic heterogeneity or call for reclassification?

PMID 20839288 2011 Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome.

PMID 25931047 2015 Bruck syndrome - a rare syndrome of bone fragility and joint contracture and novel homozygous FKBP10 mutation.

PMID 22949511 2013 Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

PMID 21567934 2011 Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.

PMID 22107750 2011 Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta.

rs1557179659 in FLNA gene and Multiple congenital anomalies

PMID 17632775 2007 Filamin A mutation is one cause of FG syndrome.

PMID 10449643 1999 Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

PMID 20598277 2010 Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.

PMID 26471271 2015 47 patients with FLNA associated periventricular nodular heterotopia.

PMID 17190868 2007 Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy.

PMID 11914408 2002 Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene.

PMID 26686323 2016 Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

PMID 16835913 2006 Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity.

PMID 23037936 2013 Congenital short bowel syndrome as the presenting symptom in male patients with FLNA mutations.

PMID 28411558 2017 Sporadic periventricular nodular heterotopia: Classification, phenotype and correlation with Filamin A mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 15917206 2005 Filamin A: phenotypic diversity.

PMID 16926860 2007 Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome.

PMID 27739212 2017 Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 11532987 2001 Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

rs1554109707 in FLT4 gene and Multiple congenital anomalies

PMID 9817924 1998 Hereditary lymphedema: evidence for linkage and genetic heterogeneity.

PMID 12960217 2003 Identification of eight novel VEGFR-3 mutations in families with primary congenital lymphoedema.

PMID 24167460 2013 Mutations in the VEGFR3 signaling pathway explain 36% of familial lymphedema.

PMID 15689446 2005 Milroy disease and the VEGFR-3 mutation phenotype.

PMID 19002718 2009 Analysis of the coding regions of VEGFR3 and VEGFC in Milroy disease and other primary lymphoedemas.

PMID 23074044 2013 FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.

rs796052462 in FOXG1 gene and Multiple congenital anomalies

PMID 24836831 2014 Epilepsy and outcome in FOXG1-related disorders.

PMID 25565401 2015 Forkhead box G1 gene haploinsufficiency: an emerging cause of dyskinetic encephalopathy of infancy.

PMID 20356955 2010 FoxG1 and TLE2 act cooperatively to regulate ventral telencephalon formation.

PMID 18571142 2008 FOXG1 is responsible for the congenital variant of Rett syndrome.

PMID 19578037 2010 Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

PMID 22998673 2012 Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

PMID 24766421 2014 Somatic mosaicism for a FOXG1 mutation: diagnostic implication.

PMID 26364767 2015 Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

PMID 27029630 2016 Delineation of the movement disorders associated with FOXG1 mutations.

PMID 21441262 2011 The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

PMID 2760358 1989 Prospective observations on stopping prolonged venom immunotherapy.

PMID 27001178 2016 Visual impairment in FOXG1-mutated individuals and mice.

PMID 27640358 2016 Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

PMID 28544139 2017 RettBASE: Rett syndrome database update.

PMID 26344814 2016 The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

rs797045586 in FOXP1 gene and Multiple congenital anomalies

PMID 26647308 2016 Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

PMID 27657687 2017 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25853299 2015 A de novo FOXP1 variant in a patient with autism, intellectual disability and severe speech and language impairment.

PMID 12692134 2003 Multiple domains define the expression and regulatory properties of Foxp1 forkhead transcriptional repressors.

PMID 20950788 2010 De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

PMID 24214399 2013 FOXP1 mutations cause intellectual disability and a recognizable phenotype.

PMID 21572417 2011 Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.

PMID 20571508 2010 Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

PMID 22670142 2012 Mild to Moderate Intellectual Disability and Significant Speech and Language Deficits in Patients with FOXP1 Deletions and Mutations.

rs386834236 in GAA gene and Multiple congenital anomalies

PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

PMID 21631931 2011 Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.

PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

PMID 24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

PMID 17853454 2007 Sibling phenotype concordance in classical infantile Pompe disease.

PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.

PMID 16702877 2006 Pompe disease diagnosis and management guideline.

PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.

PMID 19542901 2009 Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

PMID 8990003 1997 Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.

PMID 25673129 2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.

PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.

PMID 23531252 2013 Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.

PMID 3132435 1988 Glycogen storage disease type II in Israel.

PMID 17151339 2007 Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

PMID 16737883 2006 A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

PMID 12897283 2003 The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.

PMID 15985590 2005 Disease severity in children and adults with Pompe disease related to age and disease duration.

rs137852769 in GAREM2;HADHA gene and Multiple congenital anomalies

PMID 12838198 2003 Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.

PMID 11773547 2002 Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients.

PMID 27117294 2017 Diagnosis, Treatment, and Clinical Outcome of Patients with Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency.

PMID 26676313 2016 Earlier diagnosis and strict diets improve the survival rate and clinical course of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

rs1554200990 in GJA1 gene and Multiple congenital anomalies

PMID 16531323 2007 Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

PMID 24133447 2013 Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system?

PMID 23675785 2014 Overview of skin diseases linked to connexin gene mutations.

PMID 28106320 2017 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.

PMID 19338053 2009 GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.

PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

PMID 27226478 2016 Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia.

PMID 25976645 2015 A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.

PMID 12457340 2003 Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.

PMID 14974090 2004 A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

PMID 19615768 2010 Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects.

PMID 27241686 2016 A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly.

rs864309703 in GJA8 gene and Multiple congenital anomalies

PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

rs1553477189 in GLI2 gene and Multiple congenital anomalies

PMID 20685856 2010 Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.

PMID 14581620 2003 Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.

PMID 22967285 2013 Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.

PMID 21204792 2012 Clinical findings in patients with GLI2 mutations--phenotypic variability.

PMID 15994174 2005 A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.

rs397509425 in GMPPB gene and Multiple congenital anomalies

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 19901254 2009 Congenital muscular dystrophy with defective alpha-dystroglycan, cerebellar hypoplasia, and epilepsy.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

rs1555891562 in GNAS gene and Multiple congenital anomalies

PMID 11600516 2001 Analysis of the GNAS1 gene in Albright's hereditary osteodystrophy.

PMID 14561710 2003 Autosomal dominant pseudohypoparathyroidism type Ib is associated with a heterozygous microdeletion that likely disrupts a putative imprinting control element of GNAS.

PMID 10980525 2000 Activating and inactivating mutations in the human GNAS1 gene.

PMID 17161328 2006 Mutations in the Gs alpha gene causing hormone resistance.

PMID 27431290 2017 Clinical genomics expands the morbid genome of intellectual disability and offers a high diagnostic yield.

PMID 8383205 1993 Imprinting in Albright's hereditary osteodystrophy.

PMID 25802881 2015 A positive genotype-phenotype correlation in a large cohort of patients with Pseudohypoparathyroidism Type Ia and Pseudo-pseudohypoparathyroidism and 33 newly identified mutations in the GNAS gene.

PMID 23281139 2013 Pseudohypoparathyroidism type Ia and pseudo-pseudohypoparathyroidism: the growing spectrum of GNAS inactivating mutations.

PMID 23884777 2013 Paternal GNAS mutations lead to severe intrauterine growth retardation (IUGR) and provide evidence for a role of XLαs in fetal development.

PMID 18796523 2008 Compound heterozygous mutations in the GNAS gene of a boy with morbid obesity, thyroid-stimulating hormone resistance, pseudohypoparathyroidism, and a prothrombotic state.

rs1429181351 in GNPTAB gene and Multiple congenital anomalies

PMID 16630736 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

PMID 20147709 2010 Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

PMID 19617216 2010 Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

PMID 26749367 2016 Renal involvement in patients with mucolipidosis IIIalpha/beta: Causal relation or co-occurrence?

PMID 20367762 2010 The natural history and osteodystrophy of mucolipidosis types II and III.

PMID 19634183 2009 Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

PMID 16200072 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

PMID 19197337 2009 Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

PMID 23192343 2013 Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif.

rs746781699 in GPD1 gene and Multiple congenital anomalies

PMID 24549054 2014 A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

PMID 22226083 2012 Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.

PMID 28944580 2017 Biallelic mutations in GPD1 gene in a Chinese boy mainly presented with obesity, insulin resistance, fatty liver, and short stature.

rs797044857 in GRHL3 gene and Multiple congenital anomalies

PMID 28886269 2018 Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.

PMID 28276201 2017 Rare deleterious variants in GRHL3 are associated with human spina bifida.

PMID 24360809 2014 Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.

rs1348467293 in GUCY2D gene and Multiple congenital anomalies

PMID 17651254 2007 Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions.

PMID 10951519 2000 Spectrum of retGC1 mutations in Leber's congenital amaurosis.

PMID 20517349 2010 A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis.

PMID 12365911 2002 Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

PMID 24997176 2014 Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.

PMID 23035049 2013 Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

PMID 29061346 2018 Genotype-functional-phenotype correlations in photoreceptor guanylate cyclase (GC-E) encoded by GUCY2D.

PMID 19959640 2010 Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis.

PMID 25515582 2014 Whole exome sequencing reveals GUCY2D as a major gene associated with cone and cone-rod dystrophy in Israel.

rs763344375 in HCFC1R1;THOC6 gene and Multiple congenital anomalies

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

rs878853048 in HDAC8 gene and Multiple congenital anomalies

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

rs1340611668 in HHAT gene and Multiple congenital anomalies

PMID 15075292 2004 Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates.

PMID 23055936 2012 Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.

PMID 18534984 2008 Hhat is a palmitoylacyltransferase with specificity for N-palmitoylation of Sonic Hedgehog.

PMID 24784881 2014 Loss of function mutation in the palmitoyl-transferase HHAT leads to syndromic 46,XY disorder of sex development by impeding Hedgehog protein palmitoylation and signaling.

rs1554274371 in HIVEP2 gene and Multiple congenital anomalies

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22294689 2012 Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linked β-N-acetylglucosamine (O-GlcNAc) transferase.

PMID 26153216 2016 Loss-of-function variants in HIVEP2 are a cause of intellectual disability.

PMID 27003583 2016 Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.

rs1554698878 in HNRNPK gene and Multiple congenital anomalies

PMID 26954065 2016 A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 8833161 1996 Assignment of human KH-box-containing genes by in situ hybridization: HNRNPK maps to 9q21.32-q21.33, PCBP1 to 2p12-p13, and PCBP2 to 12q13.12-q13.13, distal to FRA12A.

PMID 28374925 2018 Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 16488668 2006 Cell-type-specific and developmental regulation of heterogeneous nuclear ribonucleoprotein K mRNA in the rat nervous system.

PMID 19170760 2009 hnRNP K interacts with RNA binding motif protein 42 and functions in the maintenance of cellular ATP level during stress conditions.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 22102872 2011 Heterogeneous nuclear ribonucleoprotein k interacts with Abi-1 at postsynaptic sites and modulates dendritic spine morphology.

PMID 20116073 2010 Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.

PMID 24501764 2014 Novel interstitial 2.6 Mb deletion on 9q21 associated with multiple congenital anomalies.

PMID 24288371 2014 Pfam: the protein families database.

PMID 23455423 2013 Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

PMID 9218800 1997 The K nuclear shuttling domain: a novel signal for nuclear import and nuclear export in the hnRNP K protein.

PMID 18054780 2008 Dynamic endogenous association of neurofilament mRNAs with K-homology domain ribonucleoproteins in developing cerebral cortex.

PMID 11574481 2001 The major mRNA-associated protein YB-1 is a potent 5' cap-dependent mRNA stabilizer.

PMID 10817758 2000 Nucleolin and YB-1 are required for JNK-mediated interleukin-2 mRNA stabilization during T-cell activation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 11867641 2002 Heterogeneous nuclear ribonucleoprotein (hnRNP) K is a component of an intronic splicing enhancer complex that activates the splicing of the alternative exon 6A from chicken beta-tropomyosin pre-mRNA.

PMID 12183465 2002 An RNA helicase, DDX1, interacting with poly(A) RNA and heterogeneous nuclear ribonucleoprotein K.

PMID 11891683 2002 Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy.

PMID 26173930 2015 GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

PMID 10995551 2000 Localization and phosphorylation of Abl-interactor proteins, Abi-1 and Abi-2, in the developing nervous system.

PMID 12853611 2003 Transient recruitment of the hnRNP K protein to inducibly transcribed gene loci.

PMID 15364910 2004 Phylogenetically conserved binding of specific K homology domain proteins to the 3'-untranslated region of the vertebrate middle neurofilament mRNA.

PMID 10523673 1999 The levels of the bancal product, a Drosophila homologue of vertebrate hnRNP K protein, affect cell proliferation and apoptosis in imaginal disc cells.

PMID 15170860 2004 hnRNP K: one protein multiple processes.

PMID 9234727 1997 The product of the murine homolog of the Drosophila extra sex combs gene displays transcriptional repressor activity.

PMID 24990929 2014 Loss of hnRNP K impairs synaptic plasticity in hippocampal neurons.

rs1553153365 in HNRNPR gene and Multiple congenital anomalies

PMID 20584894 2010 Heterogeneous nuclear ribonucleoproteins (hnRNPs) in cellular processes: Focus on hnRNP E1's multifunctional regulatory roles.

PMID 20795951 2010 Functional diversity of the hnRNPs: past, present and perspectives.

PMID 22366783 2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 25338097 2014 Presynaptic localization of Smn and hnRNP R in axon terminals of embryonic and postnatal mouse motoneurons.

PMID 23734093 2013 RNA-binding proteins and translational regulation in axons and growth cones.

PMID 9421497 1998 Molecular definition of heterogeneous nuclear ribonucleoprotein R (hnRNP R) using autoimmune antibody: immunological relationship with hnRNP P.

PMID 23756437 2014 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.

PMID 17603806 2007 A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome.

PMID 16757948 2006 Nonsense-mediated mRNA decay modulates clinical outcome of genetic disease.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 22498899 2012 Axonal mRNA localization and local protein synthesis in nervous system assembly, maintenance and repair.

PMID 11773003 2002 Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?

PMID 15822126 2005 Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype.

PMID 20167579 2010 The heterogeneous nuclear ribonucleoprotein-R is necessary for axonal beta-actin mRNA translocation in spinal motor neurons.

PMID 15858414 2005 Cloning and expression of a novel isoform of heterogeneous nuclear ribonucleoprotein-R.

PMID 19015982 2009 The expression pattern of heterogeneous nuclear ribonucleoprotein R in rat retina.

PMID 14623865 2003 Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons.

rs104894230 in HRAS;LRRC56 gene and Multiple congenital anomalies

PMID 12210337 2002 Further delineation of cardiac abnormalities in Costello syndrome.

PMID 16155195 2006 The phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 gene.

PMID 22317973 2012 C4ST-1/CHST11-controlled chondroitin sulfation interferes with oncogenic HRAS signaling in Costello syndrome.

PMID 18470943 2008 The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

PMID 29073591 2017 Targeted Resequencing of Putative Growth-Related Genes Using Whole Exome Sequencing in Patients with Severe Primary IGF-I Deficiency.

PMID 17250658 2007 HRAS and the Costello syndrome.

PMID 14608654 2003 Costello syndrome and neurological abnormalities.

PMID 25914166 2015 An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 28390077 2017 Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

rs753670589 in IQCE gene and Multiple congenital anomalies

PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.

PMID 9399901 1997 Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

PMID 18799693 2008 Large-scale gene trapping in C57BL/6N mouse embryonic stem cells.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 25348401 2015 The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease.

PMID 23719536 2013 The mechanisms of Hedgehog signalling and its roles in development and disease.

PMID 22981989 2012 A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia.

PMID 28224613 2017 GLI3-related polydactyly: a review.

PMID 3719536 1986 The cure of childhood cancers.

PMID 27626380 2016 High-throughput discovery of novel developmental phenotypes.

PMID 24582806 2014 EFCAB7 and IQCE regulate hedgehog signaling by tethering the EVC-EVC2 complex to the base of primary cilia.

PMID 28488682 2017 Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limb.

rs1555377234 in IRF2BPL gene and Multiple congenital anomalies

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.

rs886039392 in ITPR1 gene and Multiple congenital anomalies

PMID 28488678 2017 A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.

PMID 21367767 2011 Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features.

PMID 23495097 2013 Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.

PMID 27108798 2016 A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.

PMID 18579805 2008 Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families.

PMID 25794864 2015 Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

PMID 11445634 2001 A novel autosomal dominant spinocerebellar ataxia (SCA16) linked to chromosome 8q22.1-24.1.

PMID 22986007 2012 Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.

PMID 17030759 2006 The contactin 4 gene locus at 3p26 is a candidate gene of SCA16.

PMID 26770814 2016 ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia.

PMID 12611586 2003 Carbonic anhydrase-related protein is a novel binding protein for inositol 1,4,5-trisphosphate receptor type 1.

PMID 17590087 2007 Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

PMID 14981189 2004 Japanese SCA families with an unusual phenotype linked to a locus overlapping with SCA15 locus.

rs869312953 in JAK1 gene and Multiple congenital anomalies

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555574888 in KANSL1 gene and Multiple congenital anomalies

PMID 22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

PMID 26306646 2016 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.

PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

PMID 26293599 2015 KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.

rs199472921 in KCNH2 gene and Multiple congenital anomalies

PMID 16926178 2006 Short QT syndrome: clinical findings and diagnostic-therapeutic implications.

PMID 21130771 2011 A novel mutation in the KCNH2 gene associated with short QT syndrome.

PMID 18835466 2008 Long QT Syndrome.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 12925462 2003 Short QT Syndrome: a familial cause of sudden death.

PMID 15828882 2005 Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

PMID 24400717 2014 Gain-of-function KCNH2 mutations in patients with Brugada syndrome.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 11136691 2001 Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 25974115 2015 Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.

PMID 27761161 2016 Molecular pathogenesis of long QT syndrome type 2.

rs1556308480 in KDM6A gene and Multiple congenital anomalies

PMID 15690368 2005 Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 23076834 2013 KDM6A point mutations cause Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 19330029 2009 Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer.

PMID 18434530 2008 Sex-specific differences in expression of histone demethylases Utx and Uty in mouse brain and neurons.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 15690370 2005 Further delineation of Kabuki syndrome in 48 well-defined new individuals.

PMID 17178841 2007 Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth.

PMID 22192413 2012 UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program.

PMID 23354975 2013 Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate.

PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

PMID 24664873 2014 A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A.

PMID 9499428 1998 The UTX gene escapes X inactivation in mice and humans.

PMID 24527667 2015 Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

rs672601370 in KIF1A gene and Multiple congenital anomalies

PMID 28708278 2018 Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.

PMID 28362824 2017 Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

PMID 28332297 2017 Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

PMID 22258533 2012 KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 27034427 2016 Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.

PMID 26354034 2015 De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

PMID 21487076 2011 Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.

PMID 25265257 2015 De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.

PMID 26410750 2015 Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis.

PMID 21820098 2011 KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.

PMID 25585697 2015 Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia.

PMID 28835676 2017 Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.

PMID 26125038 2015 De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

rs781752990 in KIF7 gene and Multiple congenital anomalies

PMID 25714560 2015 A novel KIF7 mutation in two affected siblings with acrocallosal syndrome.

PMID 9066878 1997 Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

PMID 7424976 1980 Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome.

PMID 23125460 2012 Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

PMID 21552264 2011 KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

PMID 14738752 2004 Hedgehog signaling: Costal-2 bridges the transduction gap.

PMID 21633164 2011 Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

PMID 22587682 2012 A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

rs1555039606 in KMT2A gene and Multiple congenital anomalies

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

rs1555184787 in KMT2D gene and Multiple congenital anomalies

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

rs267607387 in KRT12;LOC105371777 gene and Multiple congenital anomalies

PMID 9399908 1997 Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy.

PMID 19337156 2008 The IC3D classification of the corneal dystrophies.

rs866395428 in LCA5 gene and Multiple congenital anomalies

PMID 17546029 2007 Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.

PMID 18000884 2007 Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

PMID 10631161 2000 A novel locus for Leber congenital amaurosis maps to chromosome 6q.

PMID 12642313 2003 Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus.

rs515726137 in LOC100505549;ATP8B1 gene and Multiple congenital anomalies

PMID 23060447 2012 Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.

PMID 25737299 2015 Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome.

PMID 9500542 1998 A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.

PMID 19479804 2009 Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.

PMID 19918981 2010 Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.

PMID 20852622 2010 Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia.

rs121434407 in LOC101929270;GLE1 gene and Multiple congenital anomalies

PMID 3993672 1985 A lethal autosomal recessive syndrome of multiple congenital contractures.

PMID 28884921 2017 Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

PMID 18204449 2008 Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.

PMID 24961629 2015 An exome sequencing strategy to diagnose lethal autosomal recessive disorders.

PMID 25343993 2015 Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

PMID 23421748 2013 Hypoplasia of the spinal cord in a case of foetal akinesia/arthrogryposis sequences.

PMID 27684565 2017 Expansion of the GLE1-associated arthrogryposis multiplex congenita clinical spectrum.

rs1555179320 in LOC105369689;ABCC9 gene and Multiple congenital anomalies

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

rs1555165501 in LOC105369752;COL2A1 gene and Multiple congenital anomalies

PMID 26626311 2016 The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.

PMID 9724608 1998 Gly-X-Y tripeptide frequencies in collagen: a context for host-guest triple-helical peptides.

PMID 25604898 2015 A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype.

PMID 26345137 2015 Association between Kniest dysplasia and chondrosarcoma in a child.

PMID 26358419 2016 Confirmation of autosomal recessive inheritance of COL2A1 mutations in spondyloepiphyseal dysplasia congenita: Lessons for genetic counseling.

PMID 1971141 1990 Spondyloepiphyseal dysplasia congenita: genetic linkage to type II collagen (COL2AI).

PMID 22791362 2012 Mutation-based growth charts for SEDC and other COL2A1 related dysplasias.

PMID 12925722 2003 A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia.

PMID 20513134 2010 Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

PMID 20179744 2010 Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.

PMID 12848929 2003 Basic helix-loop-helix factors in cortical development.

PMID 10353778 1999 Clinical and Molecular genetics of Stickler syndrome.

PMID 26250472 2015 Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

rs1555979596 in LOC105373252;SLC16A2 gene and Multiple congenital anomalies

PMID 18398436 2008 MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

PMID 21896621 2011 A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.

PMID 2393019 1990 Allan-Herndon syndrome. I. Clinical studies.

PMID 27672545 2016 Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 15889350 2005 Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

PMID 23550058 2013 Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.

PMID 22805248 2013 MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

PMID 24629861 2014 Inherited defects in thyroid hormone cell-membrane transport and metabolism.

PMID 20655035 2010 Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability.

PMID 20628049 2010 Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.

PMID 14661163 2004 A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.

PMID 24665922 2014 Genetic disorders of thyroid metabolism and brain development.

PMID 21098685 2011 Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

PMID 12871948 2003 Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.

rs80358312 in LRP5 gene and Multiple congenital anomalies

PMID 12579474 2003 Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

PMID 15824851 2005 Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

PMID 20652025 2010 LRP5 is required for vascular development in deeper layers of the retina.

PMID 11719191 2001 LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.

PMID 12054167 2002 Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

PMID 15346351 2004 Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.

PMID 28111184 2017 LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia.

PMID 28677207 2017 New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss.

PMID 22487062 2012 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity.

rs1555374117 in MAGEL2 gene and Multiple congenital anomalies

PMID 24661356 2014 Clinical phenotypes of MAGEL2 mutations and deletions.

PMID 11891783 2002 The MAGE proteins: emerging roles in cell cycle progression, apoptosis, and neurogenetic disease.

PMID 17728320 2007 Inactivation of the mouse Magel2 gene results in growth abnormalities similar to Prader-Willi syndrome.

PMID 21248145 2011 Impaired hypothalamic regulation of endocrine function and delayed counterregulatory response to hypoglycemia in Magel2-null mice.

PMID 19172181 2009 Loss of magel2, a candidate gene for features of Prader-Willi syndrome, impairs reproductive function in mice.

PMID 25473036 2014 Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

PMID 24076603 2013 Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

PMID 8424017 1993 Prader-Willi syndrome: consensus diagnostic criteria.

PMID 26365340 2015 Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

PMID 19066619 2009 A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader-Willi syndrome.

rs763100457 in MAN2B1 gene and Multiple congenital anomalies

PMID 9758606 1998 Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

PMID 18651971 2008 Alpha-mannosidosis.

PMID 26048034 2015 Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.

PMID 22161967 2012 Identification of 83 novel alpha-mannosidosis-associated sequence variants: functional analysis of MAN2B1 missense mutations.

PMID 12816222 2003 Hearing loss due to mannosidosis and otitis media with effusion. A case report and review of audiological assessments in children with otitis media with effusion.

PMID 7307317 1981 Mannosidosis: two brothers with different degrees of disease severity.

rs606231189 in MAP3K15;PDHA1 gene and Multiple congenital anomalies

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

rs1553518509 in MBD5 gene and Multiple congenital anomalies

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 27514998 2016 Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).

PMID 17847001 2007 Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.

PMID 22726846 2012 Disruption of an EHMT1-associated chromatin-modification module causes intellectual disability.

PMID 23422940 2013 Extended spectrum of MBD5 mutations in neurodevelopmental disorders.

PMID 21981781 2011 Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.

PMID 23632792 2014 Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

PMID 23587880 2014 Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalities.

PMID 26147564 2015 Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 24779060 2014 If not Angelman, what is it? A review of Angelman-like syndromes.

rs1556334793 in MED12 gene and Multiple congenital anomalies

PMID 24039113 2013 Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.

PMID 26273451 2015 Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

PMID 26338144 2015 Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

PMID 17103446 2006 Neuropsychological evaluation in Lujan-Fryns syndrome: commentary and clinical report.

PMID 23395478 2013 Mutations in MED12 cause X-linked Ohdo syndrome.

PMID 20970104 2010 Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

PMID 8279489 1993 Two additional cases of the Ohdo blepharophimosis syndrome.

PMID 17036352 2006 Psychopathology in the Lujan-Fryns syndrome: report of two patients and review.

PMID 16700052 2006 Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.

PMID 17334363 2007 A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome.

PMID 20507344 2011 A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).

PMID 17369503 2007 The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene.

PMID 10405444 1999 Clinical and behavioral characteristics in FG syndrome.

rs1555240361 in MED13L gene and Multiple congenital anomalies

PMID 28371282 2017 MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.

PMID 24781760 2015 Further confirmation of the MED13L haploinsufficiency syndrome.

PMID 25758992 2015 Redefining the MED13L syndrome.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 25137640 2014 Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiency.

PMID 25712080 2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PMID 14638541 2003 Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries).

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 23403903 2013 Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 5167861 1971 [Criteria in the evaluation of blood picture for the diagnosis of bovine leukosis].

PMID 28645799 2017 Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation.

PMID 29159987 2018 MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.

PMID 28588821 2017 Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

rs1554139771 in MEF2C gene and Multiple congenital anomalies

PMID 17959722 2007 MEF2: a central regulator of diverse developmental programs.

PMID 23389741 2013 MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

PMID 18579729 2008 Myocyte enhancer factor 2C as a neurogenic and antiapoptotic transcription factor in murine embryonic stem cells.

PMID 27255693 2016 MEF2C haploinsufficiency syndrome: Report of a new MEF2C mutation and review.

PMID 22498567 2012 Genetic analysis of essential cardiac transcription factors in 256 patients with non-syndromic congenital heart defects.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 20513142 2010 Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression.

PMID 19592390 2010 MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

PMID 19471318 2009 A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular cytogenetic characterization of three patients.

PMID 22670137 2012 The MEF2C-Related and 5q14.3q15 Microdeletion Syndrome.

rs1462161137 in METTL23 gene and Multiple congenital anomalies

PMID 24626631 2014 Disruption of the methyltransferase-like 23 gene METTL23 causes mild autosomal recessive intellectual disability.

PMID 24501276 2014 METTL23, a transcriptional partner of GABPA, is essential for human cognition.

rs1555446980 in MIR1469;NR2F2 gene and Multiple congenital anomalies

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

rs1553353206 in MIR4742;WDR26 gene and Multiple congenital anomalies

PMID 28686853 2017 WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.

rs147334255 in MN1 gene and Multiple congenital anomalies

PMID 15890672 2005 The 1,25(OH)2D3-regulated transcription factor MN1 stimulates vitamin D receptor-mediated transcription and inhibits osteoblastic cell proliferation.

PMID 15870292 2005 Targeted disruption of the Mn1 oncogene results in severe defects in development of membranous bones of the cranial skeleton.

PMID 11559848 2001 The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.

PMID 7731705 1995 Translocation (12;22) (p13;q11) in myeloproliferative disorders results in fusion of the ETS-like TEL gene on 12p13 to the MN1 gene on 22q11.

PMID 11094079 2000 The MN1-TEL fusion protein, encoded by the translocation (12;22)(p13;q11) in myeloid leukemia, is a transcription factor with transforming activity.

PMID 19386590 2009 Meningioma 1 is required for appropriate osteoblast proliferation, motility, differentiation, and function.

PMID 22436304 2012 Microdeletion del(22)(q12.2) encompassing the facial development-associated gene, MN1 (meningioma 1) in a child with Pierre-Robin sequence (including cleft palate) and neurofibromatosis 2 (NF2): a case report and review of the literature.

PMID 18948418 2008 The Mn1 transcription factor acts upstream of Tbx22 and preferentially regulates posterior palate growth in mice.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 19919682 2009 BioGPS: an extensible and customizable portal for querying and organizing gene annotation resources.

PMID 25549701 2014 Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type 2 (NF2) and meningioma 1 (MN1) genes.

PMID 7731706 1995 Cloning and characterization of MN1, a gene from chromosome 22q11, which is disrupted by a balanced translocation in a meningioma.

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 12569362 2003 The MN1 oncoprotein synergizes with coactivators RAC3 and p300 in RAR-RXR-mediated transcription.

rs864309503 in MORC2 gene and Multiple congenital anomalies

PMID 27329773 2016 MORC2 mutations in a cohort of Chinese patients with Charcot-Marie-Tooth disease type 2.

PMID 28581500 2017 Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.

PMID 26497905 2016 Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

PMID 28334961 2017 High intra-familiar clinical variability in MORC2 mutated CMT2 patients.

PMID 28402445 2017 De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation.

PMID 26659848 2016 MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.

PMID 27105897 2016 Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z with MORC2 mutations.

PMID 27794525 2016 MORC2 mutation causes severe spinal muscular atrophy-phenotype, cerebellar atrophy, and diaphragmatic paralysis.

PMID 26912637 2016 Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused by de novo mutation in the MORC2 gene.

PMID 28771897 2017 Clinical and mutational spectrum of Charcot-Marie-Tooth disease type 2Z caused by MORC2 variants in Japan.

rs760048191 in MSMO1 gene and Multiple congenital anomalies

PMID 21285510 2011 Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.

PMID 23622407 2013 Cholesterol metabolism deficiency.

PMID 25896808 2015 Compound mouse mutants of bZIP transcription factors Mafg and Mafk reveal a regulatory network of non-crystallin genes associated with cataract.

PMID 22935719 2012 Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes.

PMID 24144731 2014 The role of sterol-C4-methyl oxidase in epidermal biology.

PMID 20929975 2011 Malformation syndromes caused by disorders of cholesterol synthesis.

PMID 25148791 2014 Personalized diagnosis and management of congenital cataract by next-generation sequencing.

PMID 8663358 1996 Characterization of yeast methyl sterol oxidase (ERG25) and identification of a human homologue.

rs1555543296 in MYO15A;LOC105371566 gene and Multiple congenital anomalies

PMID 25792667 2015 Mutations in the MYO15A gene are a significant cause of nonsyndromic hearing loss: massively parallel DNA sequencing-based analysis.

PMID 7704031 1995 A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.

PMID 7616538 1995 Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.

PMID 18804553 2009 Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

PMID 26242193 2015 Identification and Clinical Implications of Novel MYO15A Mutations in a Non-consanguineous Korean Family by Targeted Exome Sequencing.

PMID 27375115 2016 Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

rs111033178 in MYO7A gene and Multiple congenital anomalies

PMID 10094549 1999 Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: confirmation of genetic heterogeneity.

PMID 15221449 2004 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

PMID 21150918 2011 Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China.

PMID 8900236 1996 Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

PMID 9171833 1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

PMID 7870171 1995 Defective myosin VIIA gene responsible for Usher syndrome type 1B.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 18181211 2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function.

PMID 20132242 2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation.

PMID 9354784 1997 Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene.

PMID 8776602 1996 A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene.

PMID 17361009 2007 MYO7A mutation screening in Usher syndrome type I patients from diverse origins.

PMID 9382091 1997 Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

rs137852863 in NDUFAF2 gene and Multiple congenital anomalies

PMID 22644603 2012 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.

PMID 10649489 2000 Isolated complex I deficiency in children: clinical, biochemical and genetic aspects.

PMID 16200211 2005 A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18180188 2008 The unique neuroradiology of complex I deficiency due to NDUFA12L defect.

PMID 20571988 2010 Leigh disease with brainstem involvement in complex I deficiency due to assembly factor NDUFAF2 defect.

PMID 19384974 2009 Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.

PMID 16950771 2006 Bovine complex I is a complex of 45 different subunits.

PMID 20818383 2010 High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.

rs201553266 in NEB gene and Multiple congenital anomalies

PMID 16917880 2006 Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 27933661 2017 Mutations in the NEB gene cause fetal akinesia/arthrogryposis multiplex congenita.

PMID 2838409 1988 Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

PMID 15336686 2004 Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 19805734 2009 Core-rod myopathy caused by mutations in the nebulin gene.

PMID 17525139 2007 Distal myopathy caused by homozygous missense mutations in the nebulin gene.

PMID 10051637 1999 Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

PMID 25205138 2014 Mutation update: the spectra of nebulin variants and associated myopathies.

PMID 12207937 2002 Mutations in the nebulin gene can cause severe congenital nemaline myopathy.

PMID 21724397 2011 Nemaline myopathy caused by mutations in the nebulin gene may present as a distal myopathy.

PMID 15266303 2004 Complete genomic structure of the human nebulin gene and identification of alternatively spliced transcripts.

rs137854562 in NF1 gene and Multiple congenital anomalies

PMID 25324428 2015 Use of imaging to evaluate course of the carotid artery in surgery for velopharyngeal insufficiency.

PMID 25951773 2016 Simultaneous juvenile polyposis syndrome and neurofibromatosis type 1.

PMID 24219125 2014 Juvenile-like (inflammatory/hyperplastic) mucosal polyps of the gastrointestinal tract in neurofibromatosis type 1.

PMID 27322474 2016 Comprehensive RNA Analysis of the NF1 Gene in Classically Affected NF1 Affected Individuals Meeting NIH Criteria has High Sensitivity and Mutation Negative Testing is Reassuring in Isolated Cases With Pigmentary Features Only.

PMID 27170677 2017 Neurofibromatosis Type 1-Associated Inflammatory Polyp of the Gastrointestinal Tract.

PMID 9375928 1997 Do NF1 gene deletions result in a characteristic phenotype?

PMID 25325900 2014 The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

PMID 19117870 2009 Neurofibromatosis type 1 revisited.

PMID 6025371 1967 Pulmonary stenosis, café-au-lait spots, and dull intelligence.

PMID 26758488 2016 Growth Hormone Deficiency in a Child with Neurofibromatosis-Noonan Syndrome.

PMID 22429592 2012 Pheochromocytoma and paraganglioma: understanding the complexities of the genetic background.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 1770531 1991 Watson syndrome: is it a subtype of type 1 neurofibromatosis?

PMID 16835897 2006 Identification of forty-five novel and twenty-three known NF1 mutations in Chinese patients with neurofibromatosis type 1.

PMID 20142468 2010 Corpus callosum morphology and its relationship to cognitive function in neurofibromatosis type 1.

PMID 28213670 2017 Emerging genotype-phenotype relationships in patients with large NF1 deletions.

PMID 23812910 2013 Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

PMID 18172006 2008 Leukemia-associated NF1 inactivation in patients with pediatric T-ALL and AML lacking evidence for neurofibromatosis.

PMID 22041710 2011 Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas.

PMID 23165953 2012 Increased risk of breast cancer in women with NF1.

PMID 23354915 2013 Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experience from a single center.

PMID 17105749 2007 Guidelines for the diagnosis and management of individuals with neurofibromatosis 1.

PMID 21089071 2011 Legius syndrome in fourteen families.

PMID 17369502 2007 Women with neurofibromatosis 1 are at a moderately increased risk of developing breast cancer and should be considered for early screening.

PMID 23656349 2014 A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 23244495 2012 Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

PMID 16786042 2006 A prospective study of neurofibromatosis type 1 cancer incidence in the UK.

PMID 26178382 2015 High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

PMID 15221447 2004 Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene.

PMID 19539839 2009 Neurofibromatosis type 1.

PMID 16542390 2006 Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.

PMID 23047742 2013 Increased rate of missense/in-frame mutations in individuals with NF1-related pulmonary stenosis: a novel genotype-phenotype correlation.

PMID 10726756 2000 Analysis of the NF1 gene by temperature gradient gel electrophoresis reveals a high incidence of mutations in exon 4b.

rs1553182933 in NFIA gene and Multiple congenital anomalies

PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.

PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation and urinary tract defects.

PMID 19763616 2010 A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.

PMID 24462883 2014 An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

PMID 10518556 1999 Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.

PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 20673863 2010 Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

PMID 24098143 2013 Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.

rs1556038028 in NHS gene and Multiple congenital anomalies

PMID 19414485 2009 X-linked cataract and Nance-Horan syndrome are allelic disorders.

PMID 24968223 2014 Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

PMID 22229851 2012 Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).

PMID 14564667 2003 Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

PMID 16736028 2006 New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands.

PMID 11836358 2002 A locus for isolated cataract on human Xp.

PMID 21559051 2011 The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

rs1554015303 in NIPBL gene and Multiple congenital anomalies

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 23263593 2013 Oral muscles are progressively affected in Duchenne muscular dystrophy: implications for dysphagia treatment.

PMID 22740382 2012 Identification of a prenatal profile of Cornelia de Lange syndrome (CdLS): a review of 53 CdLS pregnancies.

PMID 26537453 2015 Cornelia de Lange Syndrome.

PMID 15318302 2004 NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

rs768849266 in NMNAT2 gene and Multiple congenital anomalies

PMID 20943658 2010 Expression, localization, and biochemical characterization of nicotinamide mononucleotide adenylyltransferase 2.

PMID 24840802 2014 Wallerian degeneration: an emerging axon death pathway linking injury and disease.

PMID 16118205 2005 Subcellular compartmentation and differential catalytic properties of the three human nicotinamide mononucleotide adenylyltransferase isoforms.

PMID 14516279 2004 Characterization of human brain nicotinamide 5'-mononucleotide adenylyltransferase-2 and expression in human pancreas.

PMID 12574164 2003 Structural characterization of a human cytosolic NMN/NaMN adenylyltransferase and implication in human NAD biosynthesis.

PMID 25560765 2015 Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5.

PMID 28035283 2016 Stroke-like onset of brain stem degeneration presents with unique MRI sign and heterozygous NMNAT2 variant: a case report.

PMID 21940452 2011 Cdk5-mediated phosphorylation of Axin directs axon formation during cerebral cortex development.

PMID 23082226 2012 Nicotinamide mononucleotide adenylyltransferase 2 (Nmnat2) regulates axon integrity in the mouse embryo.

PMID 22842230 2012 Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

PMID 24284888 2014 Axonal trafficking of NMNAT2 and its roles in axon growth and survival in vivo.

PMID 12359228 2002 Identification of a novel human nicotinamide mononucleotide adenylyltransferase.

PMID 21615689 2011 Reducing expression of NAD+ synthesizing enzyme NMNAT1 does not affect the rate of Wallerian degeneration.

rs121909283 in NODAL gene and Multiple congenital anomalies

PMID 16721152 2006 Heterotaxia syndromes and their abdominal manifestations.

PMID 8429908 1993 Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation.

PMID 11709181 2001 Nodal signaling in early vertebrate embryos: themes and variations.

PMID 19553149 2009 Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

PMID 19064609 2009 Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

PMID 8610013 1996 Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

PMID 22352765 2012 Novel mutations of NODAL gene in Chinese patients with congenital heart disease.

PMID 25298693 2014 Non-cardiac issues in patients with heterotaxy syndrome.

PMID 19933292 2010 Familial transposition of the great arteries caused by multiple mutations in laterality genes.

PMID 9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.

rs1348892740 in NOTCH1 gene and Multiple congenital anomalies

PMID 19597493 2009 De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.

PMID 22318994 2012 Human gene copy number spectra analysis in congenital heart malformations.

PMID 10946361 2000 Polymicrogyria associated with scalp and limb defects: variant of Adams-Oliver syndrome.

PMID 22245843 2012 Disruption of Notch1 induces vascular remodeling, intussusceptive angiogenesis, and angiosarcomas in livers of mice.

PMID 21457232 2012 Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

PMID 19610107 2009 The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects.

PMID 18593716 2008 NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling.

PMID 17662764 2007 Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.

PMID 16729972 2006 Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.

PMID 10221902 1999 Notch signaling: cell fate control and signal integration in development.

PMID 16025100 2005 Mutations in NOTCH1 cause aortic valve disease.

PMID 23578328 2013 Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve.

PMID 24273032 2014 Nodular regenerative hyperplasia in a patient with generalized essential telangiectasia: endotheliopathy as a causal factor.

PMID 23613382 2013 Expanding the phenotype of cardiovascular malformations in Adams-Oliver syndrome.

PMID 28160419 2017 Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.

PMID 24862819 2014 Severe phenotype in two half-sibs with Adams Oliver syndrome.

PMID 25132448 2014 Mutations in NOTCH1 cause Adams-Oliver syndrome.

PMID 25914885 2019 Evidence of Aortopathy in Mice with Haploinsufficiency of Notch1 in Nos3-Null Background.

PMID 25963545 2015 Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

rs1555447237 in NR2F2 gene and Multiple congenital anomalies

PMID 10215630 1999 The orphan nuclear receptor COUP-TFII is required for angiogenesis and heart development.

PMID 18371933 2008 Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort.

PMID 24702427 2015 Prevalence and penetrance of ZFPM2 mutations and deletions causing congenital diaphragmatic hernia.

PMID 18798693 2008 Identification of COUP-TFII orphan nuclear receptor as a retinoic acid-activated receptor.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 26633542 2016 Clinical application of whole-exome sequencing across clinical indications.

PMID 21172461 2011 5.78 Mb terminal deletion of chromosome 15q in a girl, evaluation of NR2F2 as candidate gene for congenital heart defects.

PMID 24702954 2014 Rare variants in NR2F2 cause congenital heart defects in humans.

PMID 16251273 2005 Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia.

PMID 15750894 2005 Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization.

rs1554189042 in NSD1 gene and Multiple congenital anomalies

PMID 12807965 2003 Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

PMID 11896389 2002 Haploinsufficiency of NSD1 causes Sotos syndrome.

PMID 15942875 2005 Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.

PMID 17825104 2007 Sotos syndrome.

PMID 23592277 2013 The NSD1 and EZH2 overgrowth genes, similarities and differences.

PMID 12464997 2003 NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

PMID 14571271 2003 Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes.

PMID 23599694 2013 Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

PMID 23913520 2013 The phenotypic spectrum of duplication 5q35.2-q35.3 encompassing NSD1: is it really a reversed Sotos syndrome?

rs1026300967 in NTRK1 gene and Multiple congenital anomalies

PMID 27676246 2017 A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV).

PMID 28940190 2017 Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.

PMID 22302274 2012 Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.

rs773157352 in OTX2 gene and Multiple congenital anomalies

PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs398123009 in PACS1 gene and Multiple congenital anomalies

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1554865146 in PAX2 gene and Multiple congenital anomalies

PMID 24676634 2014 Mutations in PAX2 associate with adult-onset FSGS.

rs1555934843 in PDHA1 gene and Multiple congenital anomalies

PMID 21914562 2011 Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.

PMID 25526709 2015 The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.

PMID 26008863 2015 Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.

PMID 26944031 2016 Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

PMID 27144126 2016 Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.

PMID 27896109 2014 Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.

PMID 23021068 2012 Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

PMID 15384102 2004 Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.

PMID 10679936 2000 Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

PMID 7887408 1995 Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

rs1556019107 in PHF6 gene and Multiple congenital anomalies

PMID 13871358 1962 An X-linked, recessively inherited syndrome characterized by grave mental deficiency, epilepsy, and endocrine disorder.

PMID 24092917 2013 A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

PMID 27094817 2016 Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

PMID 14756673 2004 The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutations.

PMID 12415272 2002 Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome.

PMID 27633282 2016 Pathogenesis of Börjeson-Forssman-Lehmann syndrome: Insights from PHF6 function.

rs1557099144 in PHF8 gene and Multiple congenital anomalies

PMID 17661819 2007 Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate.

PMID 18498374 2008 Autism-associated familial microdeletion of Xp11.22.

PMID 16199551 2005 Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate.

PMID 17594395 2007 A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate.

PMID 19843542 2010 PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

PMID 20622853 2010 Histone H4K20/H3K9 demethylase PHF8 regulates zebrafish brain and craniofacial development.

PMID 25167861 2014 Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.

rs587777450 in PIEZO2 gene and Multiple congenital anomalies

PMID 24649842 2014 Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature.

PMID 19571066 2009 Arthrogryposis: a review and update.

PMID 27912047 2016 Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.

PMID 23487782 2013 Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis.

PMID 17345626 2007 Pulmonary disease is a component of distal arthrogryposis type 5.

PMID 27653382 2016 The Role of PIEZO2 in Human Mechanosensation.

PMID 24726473 2014 Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

PMID 27607563 2017 Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures.

PMID 25712306 2015 A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.

rs747661902 in PIGQ gene and Multiple congenital anomalies

PMID 9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PMID 24852103 2014 Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.

PMID 9729469 1998 Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.

PMID 11418246 2001 The human GPI1 gene is required for efficient glycosylphosphatidylinositol biosynthesis.

PMID 25851949 2015 PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.

PMID 25558065 2015 Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.

PMID 10373468 1999 GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.

PMID 24463883 2014 Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.

rs1057519927 in PIK3CA gene and Multiple congenital anomalies

PMID 23246288 2013 Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.

PMID 23754335 2013 Expanding the differential diagnosis of fetal hydrops: an unusual prenatal presentation of megalencephaly-capillary malformation syndrome.

PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 17376864 2007 Rare cancer-specific mutations in PIK3CA show gain of function.

PMID 26593112 2016 "Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of ""PIK3CA-Related Overgrowth Spectrum""."

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 27426476 2017 CLOVES syndrome: review of a PIK3CA-related overgrowth spectrum (PROS).

PMID 26301495 2015 In situ single-cell analysis identifies heterogeneity for PIK3CA mutation and HER2 amplification in HER2-positive breast cancer.

PMID 25557259 2015 PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 16847462 2006 The evolution of phosphatidylinositol 3-kinases as regulators of growth and metabolism.

PMID 27870750 2017 Mapping Coaches' Views of Participation in CrossFit to the Integrated Theory of Health Behavior Change and Sense of Community.

PMID 27631024 2016 PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.

rs587776934 in PIK3R2 gene and Multiple congenital anomalies

PMID 23449172 2013 Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.

PMID 23619167 2013 Frequent mutation of the PI3K pathway in head and neck cancer defines predictive biomarkers.

PMID 23592320 2013 Megalencephaly syndromes and activating mutations in the PI3K-AKT pathway: MPPH and MCAP.

PMID 22989095 2012 Caught in the AKT: identification of a de novo pathway in MCAP and MPPH and its therapeutic implications.

PMID 28086757 2017 A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.

PMID 23606607 2013 Molecular mechanisms of childhood overgrowth.

PMID 26860062 2016 De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 23745724 2014 AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH.

PMID 21984976 2011 High frequency of PIK3R1 and PIK3R2 mutations in endometrial cancer elucidates a novel mechanism for regulation of PTEN protein stability.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24497998 2014 Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations.

rs1131692280 in PKD2 gene and Multiple congenital anomalies

PMID 26275819 2015 A systematic review of the predictors of disease progression in patients with autosomal dominant polycystic kidney disease.

PMID 9856528 1998 PKD and CF: an interesting family provides insight into the molecular pathophysiology of polycystic kidney disease.

PMID 26364947 2015 Autosomal dominant polycystic kidney disease.

PMID 9856513 1998 Cystic fibrosis and the phenotypic expression of autosomal dominant polycystic kidney disease.

PMID 11007674 2000 Increased prevalence of polycystic kidney disease type 2 among elderly polycystic patients.

PMID 11095651 2000 CF gene and cystic fibrosis transmembrane conductance regulator expression in autosomal dominant polycystic kidney disease.

PMID 24925719 2014 Predictors of autosomal dominant polycystic kidney disease progression.

PMID 22383692 2012 Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

PMID 17429049 2007 Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease.

PMID 12707387 2003 Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

PMID 23376035 2013 Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy.

rs761532715 in PKDCC gene and Multiple congenital anomalies

PMID 23559552 2013 A morpholino-based screen to identify novel genes involved in craniofacial morphogenesis.

PMID 23792766 2013 The hedgehog target Vlk genetically interacts with Gli3 to regulate chondrocyte differentiation during mouse long bone development.

PMID 19097194 2009 Short limbs, cleft palate, and delayed formation of flat proliferative chondrocytes in mice with targeted disruption of a putative protein kinase gene, Pkdcc (AW548124).

PMID 19465597 2009 The novel protein kinase Vlk is essential for stromal function of mesenchymal cells.

PMID 25171405 2014 A secreted tyrosine kinase acts in the extracellular environment.

rs397514481 in PLCB4 gene and Multiple congenital anomalies

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

rs1556267123 in PLP1;RAB9B gene and Multiple congenital anomalies

PMID 7541901 1995 The proteolipid protein gene.

PMID 2479017 1989 Mutation of the proteolipid protein gene PLP in a human X chromosome-linked myelin disorder.

PMID 8780101 1996 Refined genetic mapping and proteolipid protein mutation analysis in X-linked pure hereditary spastic paraplegia.

PMID 8520726 1995 Neuropathology and genetics of Pelizaeus-Merzbacher disease.

PMID 16130097 2005 Primary progressive multiple sclerosis as a phenotype of a PLP1 gene mutation.

PMID 16778599 2006 Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.

PMID 27179222 2016 Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.

PMID 11093273 2000 Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

PMID 11761472 2001 Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

PMID 17568416 2007 Pelizaeus-Merzbacher syndrome: neurocognitive function in a family with carrier manifestations.

PMID 15627202 2005 PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.

PMID 9418954 1997 Redefining the lipophilin family of proteolipid proteins.

rs1313319892 in POGZ gene and Multiple congenital anomalies

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 26942287 2016 Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.

PMID 24463507 2014 De novo mutations in schizophrenia implicate synaptic networks.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 27148570 2015 De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.

PMID 25694107 2015 A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.

PMID 9862965 1999 Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.

PMID 26739615 2016 POGZ truncating alleles cause syndromic intellectual disability.

PMID 28480548 2017 Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.

PMID 23375656 2013 Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.

rs1555648564 in PPM1D gene and Multiple congenital anomalies

PMID 26847329 2016 Somatic Mosaic Mutations in PPM1D and TP53 in the Blood of Women With Ovarian Carcinoma.

PMID 24911145 2014 Phosphatase WIP1 regulates adult neurogenesis and WNT signaling during aging.

PMID 26823519 2016 PPM1D Mosaic Truncating Variants in Ovarian Cancer Cases May Be Treatment-Related Somatic Mutations.

PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 23242139 2013 Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

PMID 28343630 2017 De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome.

PMID 18265945 2008 The type 2C phosphatase Wip1: an oncogenic regulator of tumor suppressor and DNA damage response pathways.

PMID 22065775 2012 Wip1 promotes RUNX2-dependent apoptosis in p53-negative tumors and protects normal tissues during treatment with anticancer agents.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

rs1553923787 in PPP3CA gene and Multiple congenital anomalies

PMID 8052858 1994 Calcineurin inhibition of dynamin I GTPase activity coupled to nerve terminal depolarization.

PMID 3029762 1987 Differential localization of calmodulin-dependent enzymes in rat brain: evidence for selective expression of cyclic nucleotide phosphodiesterase in specific neurons.

PMID 28942967 2017 De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

PMID 27597899 2016 The Emerging Roles of the Calcineurin-Nuclear Factor of Activated T-Lymphocytes Pathway in Nervous System Functions and Diseases.

PMID 24140049 2014 The effects of early-life seizures on hippocampal dendrite development and later-life learning and memory.

PMID 22015374 2012 Molecular diagnostics of calcineurin-related pathologies.

PMID 25262651 2014 De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

PMID 25245802 2015 Activation of calcineurin underlies altered trafficking of α2 subunit containing GABAA receptors during prolonged epileptiform activity.

PMID 11461966 2001 A significant increase in both basal and maximal calcineurin activity in the rat pilocarpine model of status epilepticus.

PMID 20700442 2010 A missense mutation in a highly conserved alternate exon of dynamin-1 causes epilepsy in fitful mice.

PMID 15800199 2005 AMPA/kainate receptor-mediated downregulation of GABAergic synaptic transmission by calcineurin after seizures in the developing rat brain.

PMID 10627609 2000 Regulation of calcineurin by growth cone calcium waves controls neurite extension.

PMID 10473536 1999 The calcineurin-dynamin 1 complex as a calcium sensor for synaptic vesicle endocytosis.

rs147462227 in PRF1 gene and Multiple congenital anomalies

PMID 15755897 2005 A functional analysis of the putative polymorphisms A91V and N252S and 22 missense perforin mutations associated with familial hemophagocytic lymphohistiocytosis.

PMID 18710388 2008 Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis.

PMID 26605207 2015 Hemophagocytic Lymphohistiocytosis: A Series of Five Clinical Cases in Adult Patients at a Single Institution with a Review of the Literature.

PMID 16937360 2007 HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis.

PMID 21303357 2011 Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

PMID 23690113 2013 Hemophagocytic lymphohistiocytosis: an update on diagnosis and pathogenesis.

PMID 17266056 2007 Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations.

PMID 23443029 2013 Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.

rs1556299881 in PRPS1 gene and Multiple congenital anomalies

PMID 26089585 2015 Association of PRPS1 Mutations with Disease Phenotypes.

PMID 8968763 1996 Mapping of DFN2 to Xq22.

PMID 24285972 2013 Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.

PMID 25785835 2015 Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.

PMID 17701896 2007 Arts syndrome is caused by loss-of-function mutations in PRPS1.

PMID 8498830 1993 X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

PMID 24528855 2014 X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

PMID 20380929 2010 PRPS1 mutations: four distinct syndromes and potential treatment.

PMID 15955956 2005 A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24.

PMID 20021999 2010 Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

PMID 12847698 2003 Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.

PMID 25491489 2014 Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

rs886041877 in PTEN gene and Multiple congenital anomalies

PMID 11238682 2001 Male breast cancer in Cowden syndrome patients with germline PTEN mutations.

PMID 12844284 2003 Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

PMID 19265751 2009 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.

PMID 22252256 2012 Lifetime cancer risks in individuals with germline PTEN mutations.

PMID 15805158 2005 Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.

PMID 17286265 2007 Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.

PMID 19668082 2009 PTEN hamartoma tumor syndrome: an overview.

PMID 17427195 2007 Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly.

PMID 21194675 2011 A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.

PMID 23695273 2014 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.

PMID 24136893 2013 Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria.

PMID 25022750 2014 Hamartomatous polyposis syndromes: a review.

PMID 25132236 2015 Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome.

PMID 17392703 2007 Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity.

rs28933386 in PTPN11 gene and Multiple congenital anomalies

PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 17222357 2007 Noonan syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 1543375 1992 A clinical study of Noonan syndrome.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

rs797044884 in PTRH2;CLTC gene and Multiple congenital anomalies

PMID 16618797 2006 Requirement of clathrin heavy chain for p53-mediated transcription.

PMID 16982422 2006 Clathrin-mediated endocytosis is the dominant mechanism of vesicle retrieval at hippocampal synapses.

PMID 18762582 2008 Inactivation of clathrin heavy chain inhibits synaptic recycling but allows bulk membrane uptake.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 1063406 1976 Clathrin: a unique protein associated with intracellular transfer of membrane by coated vesicles.

PMID 11955450 2002 Endophilin mutations block clathrin-mediated endocytosis but not neurotransmitter release.

PMID 15217342 2004 The synaptic vesicle cycle.

PMID 15858577 2005 Clathrin is required for the function of the mitotic spindle.

PMID 9671304 1998 Visualizing secretion and synaptic transmission with pH-sensitive green fluorescent proteins.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 29100083 2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

PMID 23911319 2013 Spatial and temporal mapping of de novo mutations in schizophrenia to a fetal prefrontal cortical network.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 8375651 1993 The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism.

PMID 22511880 2012 Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

PMID 22831640 2012 Diversity of clathrin function: new tricks for an old protein.

PMID 20206336 2010 Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities.

PMID 9147638 1997 Disruption of the clathrin heavy chain-like gene (CLTCL) associated with features of DGS/VCFS: a balanced (21;22)(p12;q11) translocation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 24870542 2014 A draft map of the human proteome.

PMID 26822784 2016 CLTC as a clinically novel gene associated with multiple malformations and developmental delay.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24234437 2014 ClinVar: public archive of relationships among sequence variation and human phenotype.

rs1131692232 in PUF60 gene and Multiple congenital anomalies

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 10668799 2000 Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.

PMID 10606266 1999 PUF60: a novel U2AF65-related splicing activity.

PMID 17579712 2007 Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).

PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28327570 2017 PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PMID 19464398 2009 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 27804958 2016 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

rs121918374 in PYCR1 gene and Multiple congenital anomalies

PMID 19648921 2009 Mutations in PYCR1 cause cutis laxa with progeroid features.

PMID 24035636 2013 Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.

PMID 22052856 2011 Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.

PMID 19576563 2009 Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.

rs121908171 in RAB23 gene and Multiple congenital anomalies

PMID 25168863 2014 Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

PMID 3322002 1987 Acrocephalopolysyndactyly type II--Carpenter syndrome: clinical spectrum and an attempt at unification with Goodman and Summit syndromes.

PMID 20358613 2010 RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome.

PMID 21412941 2011 Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay.

PMID 3993675 1985 Carpenter syndrome: natural history and clinical spectrum.

PMID 15129947 2004 The carpenter syndrome phenotype.

rs1282248700 in RAB3GAP1 gene and Multiple congenital anomalies

PMID 15696165 2005 Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 20512159 2010 New RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the Danish.

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

rs1553275644 in RAB3GAP2 gene and Multiple congenital anomalies

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 24482476 2014 Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

PMID 24239381 2013 Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

PMID 23176487 2012 RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.

PMID 20967465 2011 A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.

rs80338796 in RAF1 gene and Multiple congenital anomalies

PMID 23613113 2013 A boy with Burkitt lymphoma associated with Noonan syndrome due to a mutation in RAF1.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 19437094 2009 Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 26446362 2016 Recent advances in RASopathies.

PMID 26903553 2016 Growth patterns of patients with Noonan syndrome: correlation with age and genotype.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 24777450 2014 RAF1 mutations in childhood-onset dilated cardiomyopathy.

rs1555565243 in RAI1 gene and Multiple congenital anomalies

PMID 15788730 2005 RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.

PMID 15565467 2004 Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.

PMID 16845274 2006 Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.

PMID 21857958 2011 Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion.

PMID 25781356 2015 Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

PMID 26544804 2015 Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.

PMID 26891008 2016 OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

PMID 17041942 2006 RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

PMID 21897445 2012 Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.

rs397518483 in RARB gene and Multiple congenital anomalies

PMID 24075189 2013 Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.

PMID 17506106 2007 The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew-Wood syndrome): report of eight cases including a living child and further evidence for autosomal recessive inheritance.

PMID 27120018 2016 Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment.

PMID 25457163 2015 Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.

PMID 22318625 2012 Retinoic acid signalling during development.

rs1555902810 in RBFOX2 gene and Multiple congenital anomalies

PMID 27211866 2016 RBFox2 Binds Nascent RNA to Globally Regulate Polycomb Complex 2 Targeting in Mammalian Genomes.

PMID 25205790 2014 Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.

PMID 27485310 2016 Rbfox2 function in RNA metabolism is impaired in hypoplastic left heart syndrome patient hearts.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 16260614 2005 Homologues of the Caenorhabditis elegans Fox-1 protein are neuronal splicing regulators in mammals.

PMID 25753418 2015 Repression of the Central Splicing Regulator RBFox2 Is Functionally Linked to Pressure Overload-Induced Heart Failure.

rs1556779417 in RBM10 gene and Multiple congenital anomalies

PMID 28577551 2017 Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.

PMID 24530524 2014 RBM10 regulates alternative splicing.

PMID 20451169 2010 Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.

PMID 21910224 2011 Long-term survival in TARP syndrome and confirmation of RBM10 as the disease-causing gene.

PMID 5410571 1970 Robin's syndrome. A probably X-linked recessive subvariety exhibiting persistence of left superior vena cava and atrial septal defect.

PMID 24259342 2014 Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.

rs137853229 in RECQL4 gene and Multiple congenital anomalies

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

rs1554902811 in RECQL4;LRRC14 gene and Multiple congenital anomalies

PMID 18716613 2009 The mutation spectrum in RECQL4 diseases.

PMID 18647888 2008 Radiographic abnormalities in Rothmund-Thomson syndrome and genotype-phenotype correlation with RECQL4 mutation status.

PMID 19291770 2009 A patient with Baller-Gerold syndrome and midline NK/T lymphoma.

PMID 24635570 2015 Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes.

PMID 16681588 2006 An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.

rs869025195 in RIT1 gene and Multiple congenital anomalies

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 27101134 2016 Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 27109146 2016 Two cases of RIT1 associated Noonan syndrome: Further delineation of the clinical phenotype and review of the literature.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

rs1553284965 in RPL5;DIPK1A gene and Multiple congenital anomalies

PMID 19061985 2008 Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

rs1555927554 in RPS6KA3 gene and Multiple congenital anomalies

PMID 12030896 2002 Cognitive function in Coffin-Lowry syndrome.

PMID 20637903 2011 Four novel RSK2 mutations in females with Coffin-Lowry syndrome.

PMID 24311527 2014 Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

PMID 11180593 2001 Mutations in the X-linked RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.

PMID 25044551 2014 The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.

PMID 26043507 2015 A familial case of Coffin-Lowry syndrome caused by RPS6KA3 C.898C>T mutation associated with multiple abnormal brain imaging findings.

PMID 22495309 2012 Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 24859339 2014 Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder.

PMID 15668050 2005 RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes.

PMID 17100996 2006 Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.

rs1554336981 in SAMD9 gene and Multiple congenital anomalies

PMID 16960814 2006 A deleterious mutation in SAMD9 causes normophosphatemic familial tumoral calcinosis.

PMID 18094730 2008 Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein.

PMID 27182967 2016 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7.

PMID 24029230 2013 Haploinsufficiency of SAMD9L, an endosome fusion facilitator, causes myeloid malignancies in mice mimicking human diseases with monosomy 7.

rs1057521083 in SATB2 gene and Multiple congenital anomalies

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 28151491 2017 Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

PMID 23925499 2013 Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.

PMID 27409069 2016 Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation.

PMID 28211976 2017 A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay.

PMID 2918541 1989 Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase.

PMID 19668335 2009 Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome.

PMID 25106414 2014 The clinical significance of small copy number variants in neurodevelopmental disorders.

PMID 24301056 2014 Further delineation of the SATB2 phenotype.

PMID 28170089 2017 DEPDC5 mutations in familial and sporadic focal epilepsy.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 27668656 2016 TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

PMID 25885067 2015 Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing.

PMID 17377962 2007 Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

PMID 24363063 2014 Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.

PMID 19576302 2010 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate.

PMID 16960803 2006 Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development.

PMID 10417281 1999 A locus for isolated cleft palate, located on human chromosome 2q32.

PMID 16751105 2006 SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation.

PMID 12915443 2003 Identification of SATB2 as the cleft palate gene on 2q32-q33.

rs1553706324 in SCN5A gene and Multiple congenital anomalies

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 9753711 1998 Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

PMID 22999724 2012 R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.

PMID 10940383 2000 A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome.

PMID 18378609 2008 Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation.

PMID 22766342 2012 Multifocal ectopic Purkinje-related premature contractions: a new SCN5A-related cardiac channelopathy.

PMID 16684018 2006 SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.

PMID 10471492 1999 Cardiac conduction defects associate with mutations in SCN5A.

PMID 17210839 2007 Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

PMID 16453024 2006 A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y.

PMID 25274057 2014 Genetic and clinical advances in congenital long QT syndrome.

PMID 15655131 2005 Brugada syndrome: report of the second consensus conference: endorsed by the Heart Rhythm Society and the European Heart Rhythm Association.

PMID 14523039 2003 Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).

PMID 19251209 2009 Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.

PMID 20100972 2010 Long-term prognosis of patients diagnosed with Brugada syndrome: Results from the FINGER Brugada Syndrome Registry.

PMID 11710892 2001 Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

PMID 20129283 2010 An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

PMID 12736279 2003 Risk stratification in the long-QT syndrome.

PMID 22840528 2012 Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

rs797044953 in SETD5 gene and Multiple congenital anomalies

PMID 12130538 2002 G9a histone methyltransferase plays a dominant role in euchromatic histone H3 lysine 9 methylation and is essential for early embryogenesis.

PMID 11390661 2001 The polycomb-group gene Ezh2 is required for early mouse development.

PMID 28881385 2018 Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

PMID 10699187 2000 Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

PMID 28866611 2018 Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability.

PMID 27375234 2016 SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.

PMID 17151600 2007 Genome-wide atlas of gene expression in the adult mouse brain.

PMID 21082655 2010 Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1.

PMID 17013555 2006 SET domain protein lysine methyltransferases: Structure, specificity and catalysis.

PMID 26482601 2016 High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

PMID 19760623 2009 Microarray based analysis of 3p25-p26 deletions (3p- syndrome).

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 22986149 2013 Like a rolling histone: epigenetic regulation of neural stem cells and brain development by factors controlling histone acetylation and methylation.

PMID 7477409 1995 Altered Hox expression and segmental identity in Mll-mutant mice.

PMID 12540855 2003 Structure and catalytic mechanism of the human histone methyltransferase SET7/9.

PMID 22965684 2012 Interstitial 3p25.3-p26.1 deletion in a patient with intellectual disability.

PMID 27334371 2016 Mutations in HECW2 are associated with intellectual disability and epilepsy.

PMID 14681479 2004 GenePaint.org: an atlas of gene expression patterns in the mouse embryo.

PMID 12805229 2003 NSD1 is essential for early post-implantation development and has a catalytically active SET domain.

PMID 24680889 2014 De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.

PMID 23613140 2013 Deletion of 3p25.3 in a patient with intellectual disability and dysmorphic features with further definition of a critical region.

PMID 16086857 2005 The SET-domain protein superfamily: protein lysine methyltransferases.

PMID 15774718 2005 Histone methyltransferases G9a and GLP form heteromeric complexes and are both crucial for methylation of euchromatin at H3-K9.

PMID 17100993 2006 Spastin gene mutations in Bulgarian patients with hereditary spastic paraplegia.

PMID 16919862 2007 The control of histone lysine methylation in epigenetic regulation.

rs387907186 in SF3B4 gene and Multiple congenital anomalies

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs267607048 in SHOC2 gene and Multiple congenital anomalies

PMID 25137548 2014 A Novel SHOC2 Variant in Rasopathy.

PMID 25846317 2015 Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 23918763 2013 Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis.

PMID 25331583 2014 Phenotypic variability associated with the invariant SHOC2 c.4A>G (p.Ser2Gly) missense mutation.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

rs387907306 in SKI gene and Multiple congenital anomalies

PMID 15884042 2005 Shprintzen-Goldberg syndrome: fourteen new patients and a clinical analysis.

PMID 23023332 2012 Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.

PMID 27146836 2016 Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

PMID 23103230 2012 In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

PMID 24736733 2015 The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.

rs797044882 in SMAD2 gene and Multiple congenital anomalies

PMID 26247899 2015 SMAD2 Mutations Are Associated with Arterial Aneurysms and Dissections.

PMID 23665959 2013 De novo mutations in histone-modifying genes in congenital heart disease.

PMID 11024047 2001 Nodal signaling uses activin and transforming growth factor-beta receptor-regulated Smads.

PMID 10068469 1999 Dominant-negative Smad2 mutants inhibit activin/Vg1 signaling and disrupt axis formation in Xenopus.

rs281875226 in SMARCA4 gene and Multiple congenital anomalies

PMID 24658001 2014 Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.

PMID 20137775 2010 Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome.

PMID 23815551 2014 Coffin-Siris syndrome is a SWI/SNF complex disorder.

PMID 22426308 2012 Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.

PMID 23637025 2013 Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.

PMID 28608987 2017 SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

PMID 23775540 2013 Familial rhabdoid tumour 'avant la lettre'--from pathology review to exome sequencing and back again.

PMID 23929686 2013 Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.

rs1556886034 in SMC1A gene and Multiple congenital anomalies

PMID 17273969 2007 Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of cornelia de Lange syndrome with predominant mental retardation.

PMID 28548707 2017 Phenotypes and genotypes in individuals with SMC1A variants.

PMID 16604071 2006 X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations.

PMID 28102598 2017 Novel findings of left ventricular non-compaction cardiomyopathy, microform cleft lip and poor vision in patient with SMC1A-associated Cornelia de Lange syndrome.

PMID 26386245 2015 Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.

PMID 26354354 2015 Novel pathogenic variant (c.3178G>A) in the SMC1A gene in a family with Cornelia de Lange syndrome identified by exome sequencing.

PMID 7757074 1995 The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes.

PMID 26752331 2016 De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.

PMID 26358754 2015 Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

PMID 17221863 2007 Incidence and clinical features of X-linked Cornelia de Lange syndrome due to SMC1L1 mutations.

PMID 22106055 2012 In-frame multi-exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 20635401 2010 Hypertrophic cardiomyopathy in a girl with Cornelia de Lange syndrome due to mutation in SMC1A.

PMID 19842212 2010 Spectrum and consequences of SMC1A mutations: the unexpected involvement of a core component of cohesin in human disease.

PMID 23106691 2012 Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genes.

PMID 25537356 2015 Clinical utility gene card for: Cornelia de Lange syndrome.

rs1555899177 in SON gene and Multiple congenital anomalies

PMID 22193954 2011 Son maintains accurate splicing for a subset of human pre-mRNAs.

PMID 23001566 2012 An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.

PMID 23424103 2013 Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia.

PMID 21504830 2011 SON controls cell-cycle progression by coordinated regulation of RNA splicing.

PMID 12606581 2003 HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo.

PMID 20976243 2010 Characterising and predicting haploinsufficiency in the human genome.

PMID 20581448 2010 SON is a spliceosome-associated factor required for mitotic progression.

PMID 19961433 2010 Histone deacetylase 6 (HDAC6) is an independent deacetylase for alpha-tubulin.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 23416452 2013 mRNA expression, splicing and editing in the embryonic and adult mouse cerebral cortex.

PMID 20053686 2010 Son is essential for nuclear speckle organization and cell cycle progression.

PMID 16033648 2005 A genome-wide in situ hybridization map of RNA-binding proteins reveals anatomically restricted expression in the developing mouse brain.

PMID 23603762 2013 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.

PMID 11306577 2001 Transcription repression of human hepatitis B virus genes by negative regulatory element-binding protein/SON.

PMID 1944255 1991 [Identification of a protein product of a novel human gene SON and the biological effect upon administering a changed form of this gene into mammalian cells].

PMID 10950926 2000 Organization and conservation of the GART/SON/DONSON locus in mouse and human genomes.

PMID 23595291 2013 Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

PMID 22948023 2013 Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.

PMID 27545680 2016 De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

PMID 10509013 1999 A selection system for human apoptosis inhibitors using yeast.

PMID 9185665 1997 Molecular cloning of Fyn-associated molecules in the mouse central nervous system.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 25782155 2015 Accurate splicing of HDAC6 pre-mRNA requires SON.

PMID 25590979 2015 Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

PMID 27545676 2016 De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

PMID 24013217 2013 SON connects the splicing-regulatory network with pluripotency in human embryonic stem cells.

PMID 3054499 1988 [Decoding of the primary structure of the son3 region in human genome: identification of a new protein with unusual structure and homology with DNA-binding proteins].

rs137852813 in SOS1 gene and Multiple congenital anomalies

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 23165751 2012 Medical complications, clinical findings, and educational outcomes in adults with Noonan syndrome.

PMID 22551697 2012 Decreased bone mineralization in children with Noonan syndrome: another consequence of dysregulated RAS MAPKinase pathway?

PMID 25073238 2014 Unilateral giant cell lesion of the jaw in Noonan syndrome.

PMID 26708403 2016 SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 25180280 2014 Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 18651097 2008 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

PMID 17510059 2007 Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis.

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 11868160 2002 A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1.

PMID 16773572 2006 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

rs1553327954 in SOX11 gene and Multiple congenital anomalies

PMID 15254231 2004 Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.

PMID 24886874 2014 De novo SOX11 mutations cause Coffin-Siris syndrome.

PMID 26543203 2016 Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.

rs1553862987 in SOX2;SOX2-OT gene and Multiple congenital anomalies

PMID 15578584 2005 Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.

PMID 15812812 2005 SOX2 anophthalmia syndrome.

PMID 19921648 2009 Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.

PMID 20803647 2010 Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.

PMID 16145681 2005 SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.

PMID 27427475 2016 Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.

PMID 17219395 2007 Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.

PMID 16932809 2006 Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.

rs1555537637 in SPNS2 gene and Multiple congenital anomalies

PMID 25356849 2014 Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss.

PMID 27899622 2017 UniProt: the universal protein knowledgebase.

PMID 19074308 2009 The sphingolipid transporter spns2 functions in migration of zebrafish myocardial precursors.

rs1555392032 in SPRED1 gene and Multiple congenital anomalies

PMID 24334617 2013 Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

PMID 3128965 1988 Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference.

PMID 20339110 2010 Does SPRED1 contribute to leukemogenesis in juvenile myelomonocytic leukemia (JMML)?

PMID 21495177 2011 Observations on intelligence and behavior in 15 patients with Legius syndrome.

PMID 19366998 2009 SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

PMID 11493923 2001 Spred is a Sprouty-related suppressor of Ras signalling.

PMID 19920235 2009 Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

PMID 19443465 2009 SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

PMID 20179001 2010 SPRED 1 mutations in a neurofibromatosis clinic.

PMID 22753041 2012 Review and update of SPRED1 mutations causing Legius syndrome.

PMID 21548021 2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

PMID 21649642 2011 Identification of five novel SPRED1 germline mutations in Legius syndrome.

PMID 17704776 2007 Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

PMID 21089071 2011 Legius syndrome in fourteen families.

rs1555465942 in SRCAP gene and Multiple congenital anomalies

PMID 23708140 2013 Exome sequencing to identify de novo mutations in sporadic ALS trios.

PMID 22965468 2013 Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.

PMID 22265015 2012 Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

PMID 23621943 2013 The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

PMID 26788936 2016 Stippled calcification in an infant with a recurrent SRCAP gene mutation.

PMID 25433523 2014 Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome.

PMID 23763483 2014 Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34.

PMID 24970356 2014 Whole exome sequencing to identify genetic causes of short stature.

rs1376334317 in STAG1 gene and Multiple congenital anomalies

PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.

PMID 28119487 2017 STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

rs1064794957 in STAT3 gene and Multiple congenital anomalies

PMID 18602572 2008 Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.

PMID 17881745 2007 STAT3 mutations in the hyper-IgE syndrome.

PMID 26394394 2015 54th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE). Barcelona, Spain, October 1-3, 2015: Abstracts.

PMID 28073828 2017 An Activating Mutation in STAT3 Results in Neonatal Diabetes Through Reduced Insulin Synthesis.

PMID 20159255 2010 Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

PMID 25038750 2014 Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

PMID 26343524 2015 A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation.

PMID 25359994 2015 Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

PMID 29180260 2018 A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID).

PMID 22520845 2012 Inborn errors of human JAKs and STATs.

PMID 22751495 2012 Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

rs1554121353 in SYNGAP1;MIR5004 gene and Multiple congenital anomalies

PMID 26989088 2016 Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 19196676 2009 Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 23708187 2013 Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

PMID 27827368 2016 Decrease of SYNGAP1 in GABAergic cells impairs inhibitory synapse connectivity, synaptic inhibition and cognitive function.

PMID 26079862 2015 De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

PMID 28576131 2017 Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23934111 2013 De novo mutations in epileptic encephalopathies.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 21376300 2011 Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.

PMID 23141534 2012 Pathogenic SYNGAP1 mutations impair cognitive development by disrupting maturation of dendritic spine synapses.

PMID 20531469 2010 Functional impact of global rare copy number variation in autism spectrum disorders.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 21237447 2011 De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.

PMID 23161826 2013 Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.

PMID 15312654 2004 SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.

rs1283368278 in TBCE gene and Multiple congenital anomalies

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

rs746593718 in TBCE;B3GALNT2 gene and Multiple congenital anomalies

PMID 27666369 2016 TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy.

PMID 9475091 1998 Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

PMID 15645691 2004 Hypoparathyroidism-retardation-Dysmorphism (HRD) syndrome--a review.

PMID 7538982 1995 The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

PMID 12389028 2002 Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

PMID 2001103 1991 A new syndrome of congenital hypoparathyroidism, severe growth failure, and dysmorphic features.

rs121909574 in TFAP2A-AS2;TFAP2A gene and Multiple congenital anomalies

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

rs151344530 in TFAP2A;TFAP2A-AS2 gene and Multiple congenital anomalies

PMID 21204207 2011 Genotype-phenotype analysis of the branchio-oculo-facial syndrome.

PMID 23578821 2013 Analysis of TFAP2A mutations in Branchio-Oculo-Facial Syndrome indicates functional complexity within the AP-2α DNA-binding domain.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

PMID 19764023 2009 Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFS) and report of temporal bone anomalies.

PMID 7747785 1995 Further delineation of the branchio-oculo-facial syndrome.

PMID 20358615 2010 Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

rs140430952 in TGDS gene and Multiple congenital anomalies

PMID 21834032 2011 Catel-Manzke syndrome: a clinical report suggesting autosomal recessive inheritance.

PMID 28422407 2017 Mutations in TGDS associated with additional malformations of the middle fingers and halluces: Atypical Catel-Manzke syndrome in a fetus.

PMID 25480037 2014 Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.

PMID 26366375 2015 Catel-Manzke Syndrome: Further Delineation of the Phenotype Associated with Pathogenic Variants in TGDS.

PMID 14564220 2003 Catel-Manzke syndrome without cleft palate: a case report.

PMID 24326962 2013 A patient with hyperphalangism: the milder phenotype of Catel-Manzke syndrome.

PMID 18501694 2008 Catel-Manzke syndrome: two new patients and a critical review of the literature.

rs150940923 in THOC6 gene and Multiple congenital anomalies

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

rs200426926 in THOC6;BICDL2 gene and Multiple congenital anomalies

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

rs138632121 in THOC6;HCFC1R1 gene and Multiple congenital anomalies

PMID 20503307 2010 A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population.

PMID 27102954 2017 Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.

PMID 23621916 2013 Intellectual disability associated with a homozygous missense mutation in THOC6.

PMID 15998806 2005 Recruitment of the human TREX complex to mRNA during splicing.

PMID 11060033 2000 A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae.

PMID 19059247 2009 Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).

PMID 26739162 2016 Confirming the candidacy of THOC6 in the etiology of intellectual disability.

rs746765465 in THRA gene and Multiple congenital anomalies

PMID 25670821 2015 Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).

PMID 24969835 2014 Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.

PMID 22604720 2012 Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

PMID 23633213 2013 Clinical phenotype of a new type of thyroid hormone resistance caused by a mutation of the TRα1 receptor: consequences of LT4 treatment.

PMID 26037512 2015 A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

PMID 23940126 2013 An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.

PMID 22168587 2012 A mutation in the thyroid hormone receptor alpha gene.

PMID 22494134 2012 Clinical phenotype and mutant TRα1.

PMID 27144938 2016 Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.

rs1247427997 in TMCO1 gene and Multiple congenital anomalies

PMID 20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

PMID 23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

PMID 24424126 2014 Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.

PMID 24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.

rs201108965 in TMEM216 gene and Multiple congenital anomalies

PMID 20036350 2010 Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 20512146 2010 Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

rs201893408 in TMEM67 gene and Multiple congenital anomalies

PMID 26092869 2015 Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

PMID 25920555 2016 Joubert syndrome: genotyping a Northern European patient cohort.

PMID 25729630 2014 Unraveling the genetics of Joubert and Meckel-Gruber syndromes.

PMID 27491411 2016 Targeted exome sequencing resolves allelic and the genetic heterogeneity in the genetic diagnosis of nephronophthisis-related ciliopathy.

PMID 20232449 2010 Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.

PMID 19574260 2010 Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).

PMID 23559409 2013 Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

PMID 19778711 2009 Joubert syndrome: insights into brain development, cilium biology, and complex disease.

PMID 10508989 1999 Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome.

PMID 19508969 2009 Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

rs1554062562 in TRIO gene and Multiple congenital anomalies

PMID 25363760 2014 Synaptic, transcriptional and chromatin genes disrupted in autism.

PMID 26721934 2016 TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.

PMID 24038936 2013 Clinical significance of de novo and inherited copy-number variation.

PMID 27418539 2016 Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 8643598 1996 The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains.

PMID 28928363 2017 An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio.

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

rs387907022 in TRMU gene and Multiple congenital anomalies

PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.

rs1554596397 in TRPS1 gene and Multiple congenital anomalies

PMID 11112658 2001 Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.

PMID 10615131 2000 Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.

PMID 25792522 2015 Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

PMID 14560312 2004 Novel missense mutations in the TRPS1 transcription factor define the nuclear localization signal.

PMID 24709795 2013 The Role of Tricho-Rhino-Phalangeal Syndrome (TRPS) 1 in Apoptosis during Embryonic Development and Tumor Progression.

rs1555205335 in TRPV4 gene and Multiple congenital anomalies

PMID 28898540 2017 Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy.

PMID 26249260 2015 A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia.

PMID 4056805 1985 A dominantly inherited lower motor neuron disorder presenting at birth with associated arthrogryposis.

PMID 956253 1976 Parastremmatic dwarfism.

PMID 27330106 2016 Gain-of-function mutation in TRPV4 identified in patients with osteonecrosis of the femoral head.

PMID 24677493 2014 Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

PMID 25900305 2015 Phenotypic variability of TRPV4 related neuropathies.

PMID 22791502 2012 TRPV4-associated skeletal dysplasias.

PMID 22851605 2012 Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.

PMID 20037587 2010 Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.

PMID 19232556 2009 Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

PMID 1520078 1992 A large New England kindred with autosomal dominant neurogenic scapuloperoneal amyotrophy with unique features.

PMID 21115951 2010 CMT2C with vocal cord paresis associated with short stature and mutations in the TRPV4 gene.

PMID 14755468 2004 Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo-Morquio type II syndrome): report of a new patient and review of the literature.

PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.

PMID 21288981 2011 TRPV4 mutations and cytotoxic hypercalcemia in axonal Charcot-Marie-Tooth neuropathies.

PMID 11891693 2002 Familial digital arthropathy-brachydactyly.

PMID 18587396 2008 Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

PMID 20577006 2010 Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

PMID 21964574 2011 Mutations in TRPV4 cause an inherited arthropathy of hands and feet.

PMID 20503319 2010 Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.

PMID 20425821 2010 Dominant TRPV4 mutations in nonlethal and lethal metatropic dysplasia.

PMID 20460441 2010 Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.

rs758522459 in TRUB2;COQ4 gene and Multiple congenital anomalies

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ₁₀ deficiency.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

rs1553485330 in TTN-AS1;TTN gene and Multiple congenital anomalies

PMID 10462489 1999 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

PMID 11717165 2001 The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 1745277 1991 Muscular dystrophy with separate clinical phenotypes in a large family.

PMID 21810661 2011 Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 21617319 2011 Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).

PMID 23518707 2013 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

PMID 12669942 2003 Left ventricular systolic dysfunction and ischemic cardiomyopathy.

rs1553650442 in TTN;TTN-AS1 gene and Multiple congenital anomalies

PMID 10462489 1999 Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.

PMID 21810661 2011 Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.

PMID 23418287 2013 Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy.

PMID 11717165 2001 The complete gene sequence of titin, expression of an unusual approximately 700-kDa titin isoform, and its interaction with obscurin identify a novel Z-line to I-band linking system.

PMID 21617319 2011 Contribution of genetic factors to the pathogenesis of dilated cardiomyopathy: the cause of dilated cardiomyopathy: genetic or acquired? (genetic-side).

PMID 24105469 2014 Recessive TTN truncating mutations define novel forms of core myopathy with heart disease.

PMID 18948003 2008 Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

PMID 22335739 2012 Truncations of titin causing dilated cardiomyopathy.

PMID 12669942 2003 Left ventricular systolic dysfunction and ischemic cardiomyopathy.

PMID 24395473 2014 Atypical phenotypes in titinopathies explained by second titin mutations.

PMID 23518707 2013 Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

PMID 1745277 1991 Muscular dystrophy with separate clinical phenotypes in a large family.

PMID 12145747 2002 Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

PMID 17444505 2007 C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy.

rs1555162323 in TUBA1A gene and Multiple congenital anomalies

PMID 18954413 2008 Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly.

PMID 20466733 2010 TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins.

PMID 24860126 2014 The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

PMID 18669490 2008 Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.

PMID 17584854 2007 Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).

PMID 22264709 2012 TUBA1A mutation-associated lissencephaly: case report and review of the literature.

PMID 23528852 2014 A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 18728072 2008 Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations.

PMID 25008804 2015 Mutations in α- and β-tubulin encoding genes: implications in brain malformations.

PMID 23361065 2013 Overlapping cortical malformations and mutations in TUBB2B and TUBA1A.

rs587777357 in TUBB gene and Multiple congenital anomalies

PMID 23246003 2012 Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

PMID 24833723 2014 TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

rs1555625571 in TUBB3 gene and Multiple congenital anomalies

PMID 23503589 2013 β-Tubulin mutations that cause severe neuropathies disrupt axonal transport.

PMID 25482575 2015 A family with axonal sensorimotor polyneuropathy with TUBB3 mutation.

PMID 24612975 2014 Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.

PMID 20829227 2010 Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

PMID 24257358 2013 [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].

PMID 23378218 2013 A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.

PMID 26639658 2016 Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.

PMID 25059107 2014 Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.

PMID 20074521 2010 Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.

PMID 25559402 2015 Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.

rs1553565140 in TWIST2;LOC100287387 gene and Multiple congenital anomalies

PMID 20691403 2010 Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

PMID 26119818 2015 Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

PMID 25410422 2015 Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

rs1304422857 in UBE3B gene and Multiple congenital anomalies

PMID 23687348 2013 Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome.

PMID 29160006 2018 Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.

PMID 25691420 2015 Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B.

PMID 12837265 2003 Characterization of the human UBE3B gene: structure, expression, evolution, and alternative splicing.

PMID 28003368 2017 UBE3B Is a Calmodulin-regulated, Mitochondrion-associated E3 Ubiquitin Ligase.

PMID 24615390 2014 Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.

PMID 28003643 2017 Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails.

PMID 23200864 2012 Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

rs1553268563 in USH2A gene and Multiple congenital anomalies

PMID 24944099 2014 Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots.

PMID 17296898 2007 Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2.

PMID 20145675 2010 The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

PMID 22495311 2012 Patterns and rates of exonic de novo mutations in autism spectrum disorders.

PMID 24160897 2013 Expressivity of hearing loss in cases with Usher syndrome type IIA.

PMID 18665195 2009 An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

PMID 21234346 2011 An update on the genetics of usher syndrome.

PMID 21174530 2011 Phenotypes in defined genotypes including siblings with Usher syndrome.

PMID 25649381 2015 A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.

PMID 23352160 2013 Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders.

PMID 10729113 2000 Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.

PMID 10775529 2000 Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss.

PMID 11311042 2001 Spectrum of mutations in USH2A in British patients with Usher syndrome type II.

PMID 15325563 2004 Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.

PMID 12525556 2003 Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

rs121964881 in VAX2;ATP6V1B1 gene and Multiple congenital anomalies

PMID 9916796 1999 Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

PMID 27247958 2016 Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

PMID 16611712 2006 Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

PMID 11045400 2000 New insights into the pathogenesis of renal tubular acidosis--from functional to molecular studies.

PMID 7499943 1995 Hearing impairment in association with distal renal tubular acidosis among Saudi children.

PMID 23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.

PMID 23923981 2013 ATP6V1B1 mutations in distal renal tubular acidosis and sensorineural hearing loss: clinical and genetic spectrum of five families.

PMID 16769747 2006 Vacuolar H+ -ATPase B1 subunit mutations that cause inherited distal renal tubular acidosis affect proton pump assembly and trafficking in inner medullary collecting duct cells.

PMID 28188436 2017 Clinical and molecular aspects of distal renal tubular acidosis in children.

rs1442840881 in VPS33B gene and Multiple congenital anomalies

PMID 16896922 2006 Clinical and molecular genetic features of ARC syndrome.

PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.

PMID 24917129 2015 Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

rs137853063 in VRK1 gene and Multiple congenital anomalies

PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.

rs1555198839 in VWF gene and Multiple congenital anomalies

PMID 16634745 2006 A quantitative analysis of bleeding symptoms in type 1 von Willebrand disease: results from a multicenter European study (MCMDM-1 VWD).

PMID 26288715 2015 Current controversies in the diagnosis and management of von Willebrand disease.

PMID 16862529 2006 Genetic testing for von Willebrand disease: the Canadian experience.

PMID 3495304 1987 The effect of ABO blood group on the diagnosis of von Willebrand disease.

PMID 2563148 1989 Birth of the D-E-A-D box.

PMID 22197721 2012 VWF mutations and new sequence variations identified in healthy controls are more frequent in the African-American population.

PMID 16985174 2007 Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of Type 1 von Willebrand Disease (MCMDM-1VWD).

PMID 23401897 1999 Diagnosis and management of von Willebrand disease.

PMID 16889557 2006 Update on the pathophysiology and classification of von Willebrand disease: a report of the Subcommittee on von Willebrand Factor.

PMID 19372260 2009 A novel deletion mutation is recurrent in von Willebrand disease types 1 and 3.

PMID 24319188 2013 von Willebrand disease: advances in pathogenetic understanding, diagnosis, and therapy.

PMID 11686102 2001 Congenital von Willebrand disease type I: definition, phenotypes, clinical and laboratory assessment.

PMID 17190853 2007 The mutational spectrum of type 1 von Willebrand disease: Results from a Canadian cohort study.

rs864321692 in WAC gene and Multiple congenital anomalies

PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.

PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.

PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.

PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.

PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.

PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

rs387907329 in WDR45;PRAF2 gene and Multiple congenital anomalies

PMID 25263061 2014 Early manifestations of BPAN in a pediatric patient.

PMID 23687123 2013 β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

PMID 24621584 2014 De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

PMID 24847269 2014 Neurodegeneration with brain iron accumulation: update on pathogenic mechanisms.

PMID 25592411 2015 Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

PMID 23435086 2013 De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.

PMID 26173968 2016 Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.

PMID 28932395 2017 Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report.

PMID 20562859 2010 Network organization of the human autophagy system.

PMID 23176820 2012 Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

rs797044806 in XYLT2 gene and Multiple congenital anomalies

PMID 29136277 2018 Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

PMID 26987875 2016 Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum.

PMID 26027496 2015 Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects.

PMID 28884924 2017 Two novel mutations in XYLT2 cause spondyloocular syndrome.

rs797044885 in ZBTB18 gene and Multiple congenital anomalies

PMID 26740508 2016 Identification of novel genetic causes of Rett syndrome-like phenotypes.

PMID 25131622 2014 Clinical whole exome sequencing in child neurology practice.

PMID 9756912 1998 RP58 associates with condensed chromatin and mediates a sequence-specific transcriptional repression.

PMID 9568537 1997 C2H2-171: a novel human cDNA representing a developmentally regulated POZ domain/zinc finger protein preferentially expressed in brain.

PMID 20672375 2010 Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

PMID 27598823 2017 Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

PMID 20059953 2009 A systems approach reveals that the myogenesis genome network is regulated by the transcriptional repressor RP58.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 23020937 2012 Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

PMID 24193349 2014 A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome.

PMID 17447250 2007 Spatial and temporal expression of RP58, a novel zinc finger transcriptional repressor, in mouse brain.

PMID 19409883 2009 The transcriptional repressor RP58 is crucial for cell-division patterning and neuronal survival in the developing cortex.

PMID 23494996 2013 Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.

PMID 10567577 1999 The zinc finger-associated SCAN box is a conserved oligomerization domain.

PMID 11179890 2001 Zinc finger proteins: new insights into structural and functional diversity.

PMID 14681759 2003 Frameshift mutation of the zinc finger homeo box 1 B gene in syndromic corpus callosum agenesis (Mowat-Wilson syndrome).

PMID 11854316 2002 Transcription factor haploinsufficiency: when half a loaf is not enough.

PMID 11350943 2001 Dnmt3a binds deacetylases and is recruited by a sequence-specific repressor to silence transcription.

PMID 17668379 2007 Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum.

PMID 20382278 2010 Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

PMID 22513377 2012 Rp58 is essential for the growth and patterning of the cerebellum and for glutamatergic and GABAergic neuron development.

PMID 22234186 2012 RP58 controls neuron and astrocyte differentiation by downregulating the expression of Id1-4 genes in the developing cortex.

PMID 22678713 2012 Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

PMID 21800092 2012 High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44.

PMID 21934713 2012 Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44.

PMID 22095278 2012 RP58/ZNF238 directly modulates proneurogenic gene levels and is required for neuronal differentiation and brain expansion.

rs1555933851 in ZC4H2 gene and Multiple congenital anomalies

PMID 26056227 2015 ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneurons.

PMID 23623388 2013 ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

rs1553961697 in ZEB2 gene and Multiple congenital anomalies

PMID 16053902 2005 Clinical and mutational spectrum of Mowat-Wilson syndrome.

PMID 21343952 2011 Clinical utility gene card for: Mowat-Wilson syndrome.

PMID 26809768 2016 A Diagnosis to Consider in Intellectual Disability: Mowat-Wilson Syndrome.

PMID 26721324 2016 Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.

PMID 19764019 2009 Mandibuloacral dysplasia type A in childhood.

PMID 27831545 2017 Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

PMID 17958891 2007 Mowat-Wilson syndrome.

PMID 19842203 2009 Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics.

rs797044854 in ZMYND11 gene and Multiple congenital anomalies

PMID 24590075 2014 ZMYND11 links histone H3.3K36me3 to transcription elongation and tumour suppression.

PMID 24963723 2014 ZMYND11: an H3.3-specific reader of H3K36me3.

PMID 25281490 2015 A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

PMID 25217958 2014 Refining analyses of copy number variation identifies specific genes associated with developmental delay.

PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.

PMID 22847950 2012 Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.

PMID 23372760 2013 Structural and functional analysis of the DEAF-1 and BS69 MYND domains.

PMID 16565076 2006 New insights into BS69 functions.

rs1350201776 in ZNF335 gene and Multiple congenital anomalies

PMID 19131338 2009 Identification and characterization of a novel nuclear protein complex involved in nuclear hormone receptor-mediated gene regulation.

PMID 23178126 2012 Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 27540107 2016 Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report.

rs587777695 in ZSWIM6 gene and Multiple congenital anomalies

PMID 29198722 2017 A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

PMID 26706854 2016 Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.

PMID 25105228 2014 Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.