DisGeNET - a database of gene-disease associations

MPL, MPL proto-oncogene, thrombopoietin receptor, 4352

N. diseases: 222; N. variants: 31

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

CausalMutation

CLINVAR

Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia.

11972523

2002

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

CausalMutation

CLINVAR

c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.

11133753

2001

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

CausalMutation

CLINVAR

Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia.

10971406

2000

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C3275998
Disease:

THROMBOCYTHEMIA 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

GeneticVariation

CLINVAR

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28928908

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

GeneticVariation

UNIPROT

dbSNP:

rs28928908

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0001815
Disease:

Primary Myelofibrosis

0.730

GeneticVariation

BEFREE

Approximately 6% and 14% of JAK2 V617F-negative essential thrombocythemia (ET) and primary myelofibrosis (PMF) patients, respectively, have 'canonical' MPL exon 10 driver mutations W515L/K/R/A or S505N, which generate constitutively active receptors and consequent loss of Tpo dependence.

31697803

2020

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0001815
Disease:

Primary Myelofibrosis

0.730

GeneticVariation

CLINVAR

Clinical utility of routine MPL exon 10 analysis in the diagnosis of essential thrombocythaemia and primary myelofibrosis.

20151976

2010

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0001815
Disease:

Primary Myelofibrosis

0.730

GeneticVariation

BEFREE

To evaluate the frequency of MPL W515L, W515K and S505N mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF) and to determine whether MPLW515L leads to impaired Mpl expression, constitutive STAT3 and STAT5 activation and enhanced response to thrombopoietin (TPO).

20113333

2010

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0001815
Disease:

Primary Myelofibrosis

0.730

GeneticVariation

BEFREE

Conclusions Patients with familial thrombocytosis caused by a MPL(Ser505Asn) mutation have a high risk of thrombosis and, with aging, develop splenomegaly and bone marrow fibrosis, significantly affecting their life expectancy.

19713221

2010

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0001815
Disease:

Primary Myelofibrosis

0.730

GeneticVariation

CLINVAR

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.

18528423

2008

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1292778
Disease:

Chronic myeloproliferative disorder

0.710

GeneticVariation

CLINVAR

The diagnosis and clinical course of a case of MPL S505N-positive MPN are presented with diagnostic features and treatment response resembling typical ET but with evidence of increasing bone marrow fibrosis.

23970983

2013

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1292778
Disease:

Chronic myeloproliferative disorder

0.710

GeneticVariation

BEFREE

The S505N mutation, associated with familial MPD, was detected in 3 patients.

21326037

2011

dbSNP:

rs1196161699

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.710

GeneticVariation

BEFREE

F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents.

20188141

2010

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1292778
Disease:

Chronic myeloproliferative disorder

0.710

GeneticVariation

CLINVAR

MPL mutations in myeloproliferative disorders: analysis of the PT-1 cohort.

18451306

2008

dbSNP:

rs121913614

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1292778
Disease:

Chronic myeloproliferative disorder

0.710

GeneticVariation

CLINVAR

New mutations of MPL in primitive myelofibrosis: only the MPL W515 mutations promote a G1/S-phase transition.

18528423

2008

dbSNP:

rs1196161699

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.710

GeneticVariation

UNIPROT

dbSNP:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

CausalMutation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs587778516

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040034
Disease:

Thrombocytopenia

0.700

GeneticVariation

CLINVAR

Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

31064749

2019

dbSNP:

rs28928907

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040028
Disease:

Thrombocythemia, Essential

0.700

CausalMutation

CLINVAR

Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.

28859041

2018

dbSNP:

rs587778514

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

27418648

2016

dbSNP:

rs121913615

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C3275998
Disease:

THROMBOCYTHEMIA 2

0.700

GeneticVariation

UNIPROT

The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis.

25538044

2015