DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: 46,XY SEX REVERSAL 6 ×

Gene: MAP3K1 ×

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:	4214
Gene Symbol:	MAP3K1

MAP3K1

CUI:	C3151064
Disease:	46,XY SEX REVERSAL 6

46,XY SEX REVERSAL 6

0.700

GeneticVariation

UNIPROT

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination.

2010