DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Frontometaphyseal dysplasia ×

Gene: MAP3K7 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C0265293
Disease:	Frontometaphyseal dysplasia

Frontometaphyseal dysplasia

0.610

GermlineCausalMutation

ORPHANET

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

27426733

2016

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C0265293
Disease:	Frontometaphyseal dysplasia

Frontometaphyseal dysplasia

0.610

Biomarker

CTD_human

Entrez Id:	6885
Gene Symbol:	MAP3K7

MAP3K7

CUI:	C0265293
Disease:	Frontometaphyseal dysplasia

Frontometaphyseal dysplasia

0.610

Biomarker

GENOMICS_ENGLAND