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: C1845902
Disease: FG SYNDROME 2
FG SYNDROME 2
0.300 Biomarker disease CTD_human A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 17334363 2007