Gene: NFIA ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects. 24657733

2015
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Truncating mutation in NFIA causes brain malformation and urinary tract defects. 27081522

2015
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects. 24462883

2014
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. 24267886

2013
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. 24098143

2013
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. 22301465

2012
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR De novo gene disruptions in children on the autistic spectrum. 22542183

2012
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR 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. 19763616

2010
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. 20673863

2010
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Nuclear factor one transcription factors in CNS development. 19058033

2009
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects. 17530927

2007
dbSNP: rs1553182933
rs1553182933
NFIA
A 0.700 CausalMutation CLINVAR Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum. 10518556

1999