DisGeNET - a database of gene-disease associations

Source: UNIPROT

Disease: OVARIAN DYSGENESIS 8 ×

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:	2100
Gene Symbol:	ESR2

ESR2

CUI:	C4748626
Disease:	OVARIAN DYSGENESIS 8

OVARIAN DYSGENESIS 8

0.300

GeneticVariation

UNIPROT

Early-Onset Complete Ovarian Failure and Lack of Puberty in a Woman With Mutated Estrogen Receptor β (ESR2).

2018