MED12, mediator complex subunit 12, 9968

N. diseases: 340; N. variants: 21
Disease: Intellectual Disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338758
rs80338758
Entrez Id: 9968
Gene Symbol: MED12
MED12
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Opitz-Kaveggia syndrome is a rare X-linked multiple congenital anomalies and intellectual disability disorder caused by the recurrent p.R961W mutation in the MED12 gene. 20507344 2011