DisGeNET - a database of gene-disease associations

CITED2, Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2, 10370

N. diseases: 105; N. variants: 5

Disease: Ovarian Failure, Premature ×

Variant: rs146180399 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs146180399

Entrez Id:	10370
Gene Symbol:	CITED2

CITED2

CUI:	C0085215
Disease:

Ovarian Failure, Premature

0.010

GeneticVariation

BEFREE

The nonsynonymous variant c.604C>A (p.Pro202Thr) was found uniquely in 1 woman from the POF group.

22709740

2012