rs886039230
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
0.810
GeneticVariation
BEFREE
This report expands the clinical spectrum of FMD2 caused by the recurrent c.1454C > T [p.(Pro485Leu) ] mutation in MAP3K7.
29660408
2018
rs886039230
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
0.810
GeneticVariation
UNIPROT
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
27426733
2016
rs886039230
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
A
0.810
CausalMutation
CLINVAR
rs886039235
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
0.800
GeneticVariation
UNIPROT
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
27426734
2016
rs886039237
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
0.800
GeneticVariation
UNIPROT
Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
27426734
2016
rs886039235
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
A
0.800
CausalMutation
CLINVAR
rs886039237
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
T
0.800
CausalMutation
CLINVAR
rs886039231
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
0.700
GeneticVariation
UNIPROT
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
27426733
2016
rs886039232
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
0.700
GeneticVariation
UNIPROT
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
27426733
2016
rs886039233
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
FRONTOMETAPHYSEAL DYSPLASIA 2
0.700
GeneticVariation
UNIPROT
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
27426733
2016
rs10944489
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Narcolepsy
0.700
GeneticVariation
GWASDB
Genome-wide association database developed in the Japanese Integrated Database Project.
19629137
2009
rs886039234
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
C
0.700
CausalMutation
CLINVAR
rs886039236
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Forney Robinson Pascoe syndrome
A
0.700
CausalMutation
CLINVAR
rs1424161711
×
Entrez Id:
6885
Gene Symbol:
MAP3K7
MAP3K7
Bone Cysts, Aneurysmal
0.010
GeneticVariation
BEFREE
In vitro, MYD88 L265P mutation promoted p100 signaling through TAK1/IKKα and GSK3/Fbxw7a pathways, suggesting a novel role for this protein as an upstream regulator of p100. p100 signaling was engaged during activation of normal B cells, suggesting p100's role in ABC phenotype development.
28368397
2017