Condition: Scoliosis, unspecified
rs1557055405 in
ABCD1 gene and
Scoliosis, unspecified
PMID 9452087 1998 First missense mutation (W679R) in exon 10 of the adrenoleukodystrophy gene in siblings with adrenomyeloneuropathy.
rs6570507 in
ADGRG6 gene and
Scoliosis, unspecified
PMID 23666238 2013 Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.
rs1553403917 in
ALMS1 gene and
Scoliosis, unspecified
PMID 29079548 2018 A Next Generation Sequencing custom gene panel as first line diagnostic tool for atypical cases of syndromic obesity: Application in a case of Alström syndrome.
rs10510181 in
CHL1-AS2 gene and
Scoliosis, unspecified
PMID 21216876 2011 Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
rs1400180 in
CHL1-AS2;LOC107986057 gene and
Scoliosis, unspecified
PMID 21216876 2011 Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
rs1561881909 in
CUL7;KLC4 gene and
Scoliosis, unspecified
PMID 30980518 2019 Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome.
rs1555682265 in
DCC gene and
Scoliosis, unspecified
PMID 28250456 2017 Biallelic mutations in human DCC cause developmental split-brain syndrome.
rs869320624 in
EMC1-AS1;EMC1 gene and
Scoliosis, unspecified
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 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs797045164 in
KIF1A gene and
Scoliosis, unspecified
PMID 26486474 2016 De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
rs1322331 in
LBX1 gene and
Scoliosis, unspecified
PMID 22019779 2011 A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
rs1322330 in
LBX1-AS1 gene and
Scoliosis, unspecified
PMID 22019779 2011 A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.
rs12432469 in
LINC02294;LINC02293 gene and
Scoliosis, unspecified
PMID 21216876 2011 Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
rs1400182 in
LOC107986057;CHL1-AS2 gene and
Scoliosis, unspecified
PMID 21216876 2011 Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
rs104894229 in
LRRC56;HRAS gene and
Scoliosis, unspecified
PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.
PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.
PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.
PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.
PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.
PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.
PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.
PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.
rs431905504 in
SLC6A3 gene and
Scoliosis, unspecified
PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.
rs1114167445 in
SPTBN4 gene and
Scoliosis, unspecified
PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.
rs202193096 in
TBX6 gene and
Scoliosis, unspecified
PMID 25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
rs267607144 in
TRPV4 gene and
Scoliosis, unspecified
PMID 24789864 2014 Phenotypic spectrum and incidence of TRPV4 mutations in patients with inherited axonal neuropathy.
PMID 20037588 2010 Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
PMID 22702953 2012 Structural and biochemical consequences of disease-causing mutations in the ankyrin repeat domain of the human TRPV4 channel.
PMID 20037586 2010 Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
rs2393069 in
ZWINT gene and
Scoliosis, unspecified
PMID 22019779 2011 A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis.