NFIA, nuclear factor I A, 4774

N. diseases: 95; N. variants: 29
Disease: Hypoplasia of corpus callosum ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.120 GeneticVariation disease BEFREE In this study, we confirmed that a microdeletion in the chromosome region 1p31.3 involving the NFIA gene is associated with hypoplasia of the corpus callosum, developmental delay, metopic synostosis and urinary tract abnormalities. 24462883 2014
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.120 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
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.120 Biomarker disease HPO