TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Congenital encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4024917
Disease: Congenital encephalopathy
Congenital encephalopathy 		0.010 GeneticVariation disease BEFREE Pitt-Hopkins syndrome is a severe congenital encephalopathy recently ascribed to de novo heterozygous TCF4 gene mutations. 19235238 2009