MED13L, mediator complex subunit 13L, 23389

N. diseases: 94; N. variants: 49
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918333
rs121918333
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		C 0.800 CausalMutation CLINVAR
dbSNP: rs1029377279
rs1029377279
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		A 0.700 CausalMutation CLINVAR
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: rs1135401765
rs1135401765
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1843367
Disease:
Poor school performance 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1135401766
rs1135401766
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1843367
Disease:
Poor school performance 		TA 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: C1843367
Disease:
Poor school performance 		C 0.700 CausalMutation 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: C1843367
Disease:
Poor school performance 		T 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: rs1555246154
rs1555246154
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1837341
Disease:
Transposition of the Great Arteries, Dextro-Looped 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0009081
Disease:
Congenital clubfoot 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0016202
Disease:
Flatfoot 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0423112
Disease:
Short palpebral fissure 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C2675021
Disease:
Narrow palpebral fissure 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0020580
Disease:
Hypesthesia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0241074
Disease:
Hyperextensible skin 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0086437
Disease:
Joint laxity 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1555247672
rs1555247672
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0423224
Disease:
Sunken eyes 		A 0.700 CausalMutation CLINVAR