×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Truncating mutation in NFIA causes brain malformation and urinary tract defects.
27081522
2015
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Microdeletion of 1p32-p31 involving NFIA in a patient with hypoplastic corpus callosum, ventriculomegaly, seizures and urinary tract defects.
24657733
2015
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
24462883
2014
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
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
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
24267886
2013
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
De novo gene disruptions in children on the autistic spectrum.
22542183
2012
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features.
22301465
2012
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
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
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
GeneticVariation
disease
BEFREE
A microdeletion 1p31.3p32.2 which includes the NFIA gene is associated with hypoplasia of the corpus callosum, ventriculomegaly, and dysmorphic features .
19763616
2010
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
20673863
2010
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Nuclear factor one transcription factors in CNS development.
19058033
2009
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
NFIA haploinsufficiency is associated with a CNS malformation syndrome and urinary tract defects.
17530927
2007
×
Entrez Id:
4774
Gene Symbol:
NFIA
NFIA
0.110
CausalMutation
disease
CLINVAR
Disruption of the murine nuclear factor I-A gene (Nfia) results in perinatal lethality, hydrocephalus, and agenesis of the corpus callosum.
10518556
1999