DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Gonadal Dysgenesis, 46,XY ×

Gene: WT1 ×

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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:	7490
Gene Symbol:	WT1

WT1

CUI:	C0018054
Disease:	Gonadal Dysgenesis, 46,XY

Gonadal Dysgenesis, 46,XY

0.310

GeneticVariation

ORPHANET

WT1 mutation as a cause of 46 XY DSD and Wilm's tumour: a case report and literature review.

2011