DisGeNET - a database of gene-disease associations

rs121913499, IDH1

N. diseases: 51

Disease: Colorectal Carcinoma ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Colorectal Carcinoma

CUI:	C0009402
Disease:	Colorectal Carcinoma

0.710

GeneticVariation

BEFREE

Isocitrate dehydrogenase 1 R132C mutation occurs exclusively in microsatellite stable colorectal cancers with the CpG island methylator phenotype.

2014

Colorectal Carcinoma

CUI:	C0009402
Disease:	Colorectal Carcinoma

0.710

GeneticVariation

UNIPROT