NEUROD1, neuronal differentiation 1, 4760

N. diseases: 135; N. variants: 8
Disease: Autonomic nervous system disorders ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		0.010 Biomarker group BEFREE Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. 17436254 2007