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: rs1555246154
rs1555246154
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		C 0.700 GeneticVariation CLINVAR Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation. 28645799 2017
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
dbSNP: rs1057518705
rs1057518705
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1135401765
rs1135401765
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
dbSNP: rs1135401766
rs1135401766
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1135401810
rs1135401810
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs147976828
rs147976828
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
dbSNP: rs1555241166
rs1555241166
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555243059
rs1555243059
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1555243582
rs1555243582
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555244212
rs1555244212
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555246143
rs1555246143
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555247672
rs1555247672
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
dbSNP: rs1555247699
rs1555247699
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
dbSNP: rs1555248025
rs1555248025
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		CTGGT 0.700 GeneticVariation CLINVAR
dbSNP: rs1555250044
rs1555250044
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs1565981137
rs1565981137
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1565982697
rs1565982697
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1565987758
rs1565987758
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs869025286
rs869025286
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
dbSNP: rs869025287
rs869025287
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869025288
rs869025288
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
dbSNP: rs869025289
rs869025289
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		T 0.700 CausalMutation CLINVAR
dbSNP: rs869025291
rs869025291
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C4225208
Disease:
MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS 		GA 0.700 CausalMutation CLINVAR
dbSNP: rs869312707
rs869312707
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