rs121918333
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
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
rs121918333
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Transposition of the Great Arteries, Dextro-Looped 1
C
0.800
CausalMutation
CLINVAR
rs11067904
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Body Height
0.700
GeneticVariation
GWASCAT
Characterizing rare and low-frequency height-associated variants in the Japanese population.
31562340
2019
rs73196098
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Systolic Pressure
0.700
GeneticVariation
GWASCAT
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
30595370
2019
rs1555239936
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555240361
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
A
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555240361
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Multiple congenital anomalies
A
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555240376
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Multiple congenital anomalies
T
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555240376
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
T
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555243099
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Movement Disorders
T
0.700
GeneticVariation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555243099
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
T
0.700
GeneticVariation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555244216
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
C
0.700
GeneticVariation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555244216
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Overgrowth
C
0.700
GeneticVariation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555247469
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555247469
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555247853
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Movement Disorders
TGTTCGAG
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555247853
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
TGTTCGAG
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555248020
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Multiple congenital anomalies
C
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555248020
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs1555248020
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
29159987
2018
rs61935843
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
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
rs61939692
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Hair Color
A
0.700
GeneticVariation
GWASCAT
Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
30531825
2018
rs73200209
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
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
rs1555239936
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
UniProt: the universal protein knowledgebase.
27899622
2017
rs1555239936
×
Entrez Id:
23389
Gene Symbol:
MED13L
MED13L
Muscle hypotonia
A
0.700
CausalMutation
CLINVAR
MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.
28371282
2017