Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.300 Biomarker GENOMICS_ENGLAND Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 24715367

2014