DisGeNET - a database of gene-disease associations

Gene: SRY ×

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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:	6736
Gene Symbol:	SRY

SRY

CUI:	C0018055
Disease:	Gonadal Dysgenesis, Mixed

Gonadal Dysgenesis, Mixed

0.360

GeneticVariation

ORPHANET

The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.

2011