Gene: NFIA
Alternate names for this Gene: BRMUTD|CTF|NF-I/A|NF1-A|NFI-A|NFI-L
Gene Summary: This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1p31.3
Description of this Gene: nuclear factor I A
Type of Gene: protein-coding
rs332828 in
NFIA gene and
Anxiety
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
rs1125777 in
NFIA gene and
Bipolar Disorder
PMID 22925353 2013 A genome-wide association study of seasonal pattern mania identifies NF1A as a possible susceptibility gene for bipolar disorder.
rs12561869 in
NFIA gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs6691768 in
NFIA gene and
Celiac Disease
PMID 20190752 2010 Multiple common variants for celiac disease influencing immune gene expression.
PMID 25920553 2016 Common polygenic variation in coeliac disease and confirmation of ZNF335 and NIFA as disease susceptibility loci.
rs1553182933 in
NFIA gene and
Dysmorphic features
PMID 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
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 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
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.
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 19058033 2009 Nuclear factor one transcription factors in CNS development.
PMID 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
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 27081522 2015 Truncating mutation in NFIA causes brain malformation 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.
rs2207793 in
NFIA gene and
Electrocardiography
PMID 29622589 2018 Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study).
rs17377218 in
NFIA gene and
Hair Color
PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
rs9436640 in
NFIA gene and
Heart Function Tests
PMID 21076409 2010 Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction.
rs55878063 in
NFIA gene and
High density lipoprotein measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs334699 in
NFIA gene and
Hormone measurement
PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
rs1553182964 in
NFIA gene and
Movement Disorders
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 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 22301465 2012 Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
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.
PMID 24657733 2015 Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
PMID 22542183 2012 De novo gene disruptions in children on the autistic spectrum.
PMID 27081522 2015 Truncating mutation in NFIA causes brain malformation 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 24267886 2013 Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
PMID 19058033 2009 Nuclear factor one transcription factors in CNS development.
PMID 17530927 2007 NFIA haploinsufficiency is associated with a CNS malformation syndrome 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.
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.
rs479445 in
NFIA gene and
Myopia
PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.
rs2207790 in
NFIA gene and
QRS complex feature
PMID 27659466 2016 52 Genetic Loci Influencing Myocardial Mass.
rs2261980 in
NFIA gene and
Red Blood Cell Count measurement
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs334699 in
NFIA gene and
Thyroid stimulating hormone measurement
PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
rs55878063 in
NFIA gene and
Triglycerides measurement
PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.
rs4406666 in
NFIA gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.