DisGeNET - a database of gene-disease associations

Leukemia, Myelocytic, Acute, C0023467

Variant: rs121912472 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121912472

JAK2 ; INSL6

0.810

GeneticVariation

BEFREE

Thus our studies provide clues in understanding the leukemogenesis of JAK2 K607N mutation in AML.

30521925

2019

dbSNP:

rs121912472

JAK2 ; INSL6

0.810

GeneticVariation

UNIPROT

Acute myeloblastic leukaemias in adult patients: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up.

23970018

2013

dbSNP:

rs121912472

JAK2 ; INSL6

0.810

GeneticVariation

UNIPROT

NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology.

22138009

2011

dbSNP:

rs121912472

JAK2 ; INSL6

0.810

GeneticVariation

UNIPROT

The JAK2 V617F mutation in de novo acute myelogenous leukemias.

16247455

2006

dbSNP:

rs121912472

JAK2 ; INSL6

0.810

CausalMutation

CLINVAR