DisGeNET - a database of gene-disease associations

MAP3K7, mitogen-activated protein kinase kinase kinase 7, 6885

N. diseases: 273; N. variants: 10

Disease: FRONTOMETAPHYSEAL DYSPLASIA 2 ×

Variant: rs886039230 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs886039230

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C4310697
Disease:

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

dbSNP:

rs886039230

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C4310697
Disease:

FRONTOMETAPHYSEAL DYSPLASIA 2

0.810

GeneticVariation

UNIPROT

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

27426733

2016

dbSNP:

rs886039230

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C4310697
Disease:

FRONTOMETAPHYSEAL DYSPLASIA 2

0.810

CausalMutation

CLINVAR