DisGeNET - a database of gene-disease associations

IDH1, isocitrate dehydrogenase (NADP(+)) 1, 3417

N. diseases: 399; N. variants: 10

Disease: Intrahepatic Cholangiocarcinoma ×

Variant: rs121913499 ×

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:

rs121913499

Entrez Id:	3417
Gene Symbol:	IDH1

IDH1

CUI:	C0345905
Disease:

Intrahepatic Cholangiocarcinoma

0.010

GeneticVariation

BEFREE

Three cases in iCC (6.5%) and five cases in HCC (10.4%) had IDH1 mutation, all of which were Arg132Cys.

28403884

2017