DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Retinoblastoma ×

Variant: rs121913500 ×

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:

rs121913500

rs121913500

IDH1

CUI:	C0035335
Disease:	Retinoblastoma

Retinoblastoma

0.010

GeneticVariation

BEFREE

Using immunohistochemistry, we investigated expression of R132H IDH1, and p53 and retinoblastoma pathways.

2012