DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Leukemia, Myelocytic, Acute ×

Variant: rs376588714 ×

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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:

rs376588714

FLT3

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.710

GeneticVariation

CLINVAR

Reversal of acquired drug resistance in FLT3-mutated acute myeloid leukemia cells via distinct drug combination strategies.

24619500

2014

dbSNP:

rs376588714

FLT3

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.710

GeneticVariation

CLINVAR

Activity of ponatinib against clinically-relevant AC220-resistant kinase domain mutants of FLT3-ITD.

23430109

2013

dbSNP:

rs376588714

FLT3

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.710

GeneticVariation

CLINVAR

Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia.

22504184

2012