MYOD1, myogenic differentiation 1, 4654

N. diseases: 106; N. variants: 2
Disease: Pena-Shokeir syndrome type I ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.400 GermlineCausalMutation disease ORPHANET Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia. 26733463 2016
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		0.400 Biomarker disease HPO