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
0.800 GeneticVariation UNIPROT Missense mutations and gene interruption in PROSIT240, a novel TRAP240-like gene, in patients with congenital heart defect (transposition of the great arteries). 14638541 2003
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: rs11067904
rs11067904
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0005890
Disease:
Body Height
0.700 GeneticVariation GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
dbSNP: rs73196098
rs73196098
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0871470
Disease:
Systolic Pressure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555240361
rs1555240361
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555240361
rs1555240361
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0000772
Disease:
Multiple congenital anomalies
A 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555240376
rs1555240376
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0000772
Disease:
Multiple congenital anomalies
T 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555240376
rs1555240376
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555243099
rs1555243099
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease:
Movement Disorders
T 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555243099
rs1555243099
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
T 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555244216
rs1555244216
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555244216
rs1555244216
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C1849265
Disease:
Overgrowth
C 0.700 GeneticVariation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555247469
rs1555247469
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555247469
rs1555247469
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555247853
rs1555247853
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026650
Disease:
Movement Disorders
TGTTCGAG 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555247853
rs1555247853
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
TGTTCGAG 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555248020
rs1555248020
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0000772
Disease:
Multiple congenital anomalies
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555248020
rs1555248020
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs1555248020
rs1555248020
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0432072
Disease:
Dysmorphic features
C 0.700 CausalMutation CLINVAR MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence. 29159987 2018
dbSNP: rs61935843
rs61935843
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0339682
Disease:
Regular astigmatism - corneal
C 0.700 GeneticVariation GWASCAT Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. 30306274 2018
dbSNP: rs61939692
rs61939692
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0018498
Disease:
Hair Color
A 0.700 GeneticVariation GWASCAT Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability. 30531825 2018
dbSNP: rs73200209
rs73200209
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0005938
Disease:
Bone Density
A 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 CausalMutation CLINVAR UniProt: the universal protein knowledgebase. 27899622 2017
dbSNP: rs1555239936
rs1555239936
Entrez Id: 23389
Gene Symbol: MED13L
MED13L
CUI: C0026827
Disease:
Muscle hypotonia
A 0.700 CausalMutation CLINVAR MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. 28371282 2017