NEUROD1, neuronal differentiation 1, 4760

N. diseases: 135; N. variants: 8
Disease: Pallister-Hall syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265220
Disease: Pallister-Hall syndrome
Pallister-Hall syndrome 		0.010 Biomarker disease BEFREE These findings demonstrate that TCF4 anomalies are responsible for PHS and provide the first evidence of a human disorder related to class I basic helix-loop-helix transcription-factor defects (also known as "E proteins"). 17436254 2007