DisGeNET - a database of gene-disease associations

Hematologic Neoplasms, C0376545

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:

rs1057519802

CSF1R

0.700

GeneticVariation

CLINVAR

Imatinib sensitivity as a consequence of a CSF1R-Y571D mutation and CSF1/CSF1R signaling abnormalities in the cell line GDM1.

18971950

2009

dbSNP:

rs1057520014

CSF1R

0.700

GeneticVariation

CLINVAR

FMS mutations in myelodysplastic, leukemic, and normal subjects.

2406720

1990

dbSNP:

rs121913390

CSF1R

0.700

GeneticVariation

CLINVAR

FMS mutations in myelodysplastic, leukemic, and normal subjects.

2406720

1990

dbSNP:

rs121913393

CSF1R

0.700

GeneticVariation

CLINVAR

FMS mutations in myelodysplastic, leukemic, and normal subjects.

2406720

1990

dbSNP:

rs121913506

KIT

0.700

GeneticVariation

CLINVAR

An update on molecular genetics of gastrointestinal stromal tumours.

16731599

2006

dbSNP:

rs121913506

KIT

0.700

GeneticVariation

CLINVAR

An update on molecular genetics of gastrointestinal stromal tumours.

16731599

2006

dbSNP:

rs121913512

KIT

0.700

GeneticVariation

CLINVAR

STI571 inactivation of the gastrointestinal stromal tumor c-KIT oncoprotein: biological and clinical implications.

11526490

2001

dbSNP:

rs121913615

MPL

0.700

GeneticVariation

CLINVAR

MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia.

16834459

2006

dbSNP:

rs1801271

CSF1R

0.700

GeneticVariation

CLINVAR

FMS mutations in myelodysplastic, leukemic, and normal subjects.

2406720

1990

dbSNP:

rs1801271

CSF1R

0.700

GeneticVariation

CLINVAR

FMS mutations in myelodysplastic, leukemic, and normal subjects.

2406720

1990

dbSNP:

rs267606706

CBL

0.700

GeneticVariation

CLINVAR

CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.

23696637

2013

dbSNP:

rs387906664

CBL

0.700

GeneticVariation

CLINVAR

CBL linker region and RING finger mutations lead to enhanced granulocyte-macrophage colony-stimulating factor (GM-CSF) signaling via elevated levels of JAK2 and LYN.

23696637

2013

dbSNP:

rs724159947

ETV6

0.700

GeneticVariation

CLINVAR

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

25581430

2015

dbSNP:

rs77375493

JAK2 ; INSL6

0.040

GeneticVariation

BEFREE

Although the Jak2-V617F mutation has generated strong awareness because of its causative role in myeloproliferative disorders, reports of Jak2 gene aberrations linked to hematologic malignancies have preceded those of V617F by nearly a decade.

19216843

2009

dbSNP:

rs77375493

JAK2 ; INSL6

0.040

GeneticVariation

BEFREE

The gain of function mutation JAK2-V617F is very frequently found in myeloproliferative neoplasms (MPNs) and is strongly implicated in pathogenesis of these and other hematological malignancies.

24404189

2014

dbSNP:

rs77375493

JAK2 ; INSL6

0.040

GeneticVariation

BEFREE

However it is not so easy, because iPSCs from hematological malignancies have been established only from myeloproliferative neoplasms including chronic myelogenous leukemia (CML) and JAK2-V617F mutation-positive polycythemia vera (PV). iPSC technology has great potential to promote oncology research based on patient samples.

23807288

2013

dbSNP:

rs77375493

JAK2 ; INSL6

0.040

GeneticVariation

BEFREE

The discovery of the highly prevalent activating JAK (Janus kinase) 2 V617F mutation in myeloproliferative neoplasms, and of other pseudokinase domain-activating mutations in JAK2, JAK1 and JAK3 in blood cancers, prompted great interest in understanding how pseudokinase domains regulate kinase domains in JAKs.

23863177

2013

dbSNP:

rs1042522

TP53

0.020

GeneticVariation

BEFREE

The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.

23029260

2012

dbSNP:

rs1042522

TP53

0.020

GeneticVariation

BEFREE

R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting.

25768405

2015

dbSNP:

rs1131691014

TP53

0.020

GeneticVariation

BEFREE

The overall results suggested that p53 Arg72Pro polymorphism was not associated with hematological malignancies risk.

23029260

2012

dbSNP:

rs1131691014

TP53

0.020

GeneticVariation

BEFREE

R72P associations with specific cancer risk, particularly hematological malignancies, have been conflicting.

25768405

2015

dbSNP:

rs1217691063

MTHFR

0.020

GeneticVariation

BEFREE

MTHFR C677T polymorphism may be a good predictor for MTX toxicity in adult hematological malignancies.

27270164

2016

dbSNP:

rs1217691063

MTHFR

0.020

GeneticVariation

BEFREE

Differential effects of the methylenetetrahydrofolate reductase polymorphisms (C677T and A1298C) on hematological malignancies among Latinos: a meta-analysis.

31188929

2019

dbSNP:

rs387907272

MYD88

0.020

GeneticVariation

BEFREE

However, the seminal discoveries of MYD88 (L265P) mutation, present in the vast majority (85-100 %), and CXCR4 (WHIM) mutations, identified in nearly a third of patients (who almost exclusively harbor the MYD88 (L265P) variant), have laid a solid foundation for a paradigm shift in our diagnostic and therapeutic approaches towards this rare hematologic malignancy.

26942591

2016

dbSNP:

rs387907272

MYD88

0.020

GeneticVariation

BEFREE

Although the absence of the MyD88 L265P somatic mutation in our SS cohort does not exclude a common germline susceptibility gene in SS, it might suggest a distinct operating pathogenetic mechanism in SS-related lymphoma compared with WM and other hematological malignancies.

24153350

2014