DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Leukemia, Myelocytic, Acute ×

Variant: rs121913502 ×

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:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.

24606448

2014

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Rapid detection of IDH2 (R140Q and R172K) mutations in acute myeloid leukemia.

23949315

2013

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation.

23558173

2013

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

There were 9 AML patients with R140Q mutation, 1 patient with R140W mutation, and 1 patient with R172K mutation.

23815907

2013

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Molecular alterations of isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) metabolic genes and additional genetic mutations in newly diagnosed acute myeloid leukemia patients.

22397365

2012

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Prognostic relevance of integrated genetic profiling in acute myeloid leukemia.

22417203

2012

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Impact of genetic features on treatment decisions in AML.

22160010

2011

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Impact of genetic features on treatment decisions in AML.

22160010

2011

dbSNP:

rs121913502

IDH2

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.780

CausalMutation

CLINVAR

Intriguingly, the IDH2 mutation p.R140Q and novel IDH1 mutation p.I99M co-occurred in a 75-year-old patient with AML developed from myelodysplastic syndromes (MDS).

20946881

2010