MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Disease: MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555246952
rs1555246952
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 CausalMutation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017