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:

rs770457041

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

dbSNP:

rs770166362

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040028
Disease:

Thrombocythemia, Essential

0.010

GeneticVariation

BEFREE

Here, we report the derivation of induced pluripotent stem cells (iPSCs) from an ET patient with a heterozygous MPL V501L mutation.

28395806

2017

dbSNP:

rs766642690

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0032463
Disease:

Polycythemia Vera

0.010

GeneticVariation

BEFREE

A novel mutation of MPL (Y591D), which was involved in this uniparental disomy, was found in 1 PV with JAK2 mutation.

18723266

2008

dbSNP:

rs764904424

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

UNIPROT

dbSNP:

rs763568293

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

UNIPROT

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

16470591

2006

dbSNP:

rs763568293

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

UNIPROT

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

25538044

2015

dbSNP:

rs758428763

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

UNIPROT

dbSNP:

rs755257605

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations.

17666371

2007

dbSNP:

rs755257605

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life.

23625800

2013

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C3275998
Disease:

THROMBOCYTHEMIA 2

0.700

GeneticVariation

UNIPROT

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040028
Disease:

Thrombocythemia, Essential

0.700

CausalMutation

CLINVAR

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.

19036112

2009

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene.

19036112

2009

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

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

25538044

2015

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0040028
Disease:

Thrombocythemia, Essential

0.700

CausalMutation

CLINVAR

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

25538044

2015

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0836924
Disease:

Thrombocytosis

0.030

GeneticVariation

BEFREE

Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.

30183354

2018

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0836924
Disease:

Thrombocytosis

0.030

GeneticVariation

BEFREE

In a retroviral mouse model performed in Mpl<sup>-/-</sup> mice, MPL P106L could induce a thrombocytosis phenotype with high circulating THPO levels.

28034873

2016

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0836924
Disease:

Thrombocytosis

0.030

GeneticVariation

BEFREE

We assume that p.Pro106Leu is a frequent MPL mutation in the Arab population, leading to severe thrombocytosis in homozygotes and occasionally to mild thrombocytosis in heterozygotes.

19036112

2009

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C0038454
Disease:

Cerebrovascular accident

0.010

GeneticVariation

BEFREE

Another patient with stroke and a pulmonary embolism was heterozygous for the p.Pro106Leu variant of the MPL gene, which has been associated with thrombocytosis.

30183354

2018

dbSNP:

rs750046020

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C4303761
Disease:

Familial thrombocytosis

0.010

GeneticVariation

BEFREE

Strong support for association of the novel MPL mutation p.Pro106Leu with development of familial thrombocytosis has been obtained.

19036112

2009

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:

rs587778515

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

16470591

2006

dbSNP:

rs587778515

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

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

11133753

2001

dbSNP:

rs587778514

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

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

11133753

2001

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:

rs587778514

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease.

16470591

2006