MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.300 Biomarker disease GENOMICS_ENGLAND Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 24715367 2014