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:

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

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

25768405

2015

dbSNP:

rs878854066

TP53

0.020

GeneticVariation

BEFREE

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

25768405

2015

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

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:

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:

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:

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:

rs397507444

MTHFR

0.010

GeneticVariation

BEFREE

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

31188929

2019

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:

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:

rs724159945

ETV6

0.700

CausalMutation

CLINVAR

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

25581430

2015

dbSNP:

rs724159946

ETV6

0.700

CausalMutation

CLINVAR

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

25581430

2015

dbSNP:

rs724159947

ETV6

0.700

GeneticVariation

CLINVAR

Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy.

25581430

2015

dbSNP:

rs78245253

GATA2

0.010

GeneticVariation

BEFREE

Hence, we concluded GATA-2 L359 V is exclusively associated with CML progression but not other hematological malignancies and P250A is a new single nucleotide polymorphism.

19304323

2009

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:

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:

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:

rs13347

CD44

0.010

GeneticVariation

BEFREE

In conclusion, our results indicate that among investigated single nucleotide polymorphisms (SNPs), only CD44 rs13347 has an impact on the efficacy of HSCs mobilization in patients with hematologic malignancies.

24680978

2014

dbSNP:

rs909253

LTA ; LOC100287329

0.010

GeneticVariation

BEFREE

In the subgroup analysis, significant association of rs909253 was found in adenocarcinoma (OR = 1.16, P (z) < 0.001) and hematological malignancy (OR = 1.10, P (z) < 0.001).

24136744

2014