DisGeNET - a database of gene-disease associations

MPL, MPL proto-oncogene, thrombopoietin receptor, 4352

N. diseases: 222; N. variants: 31

Disease: Congenital amegakaryocytic thrombocytopenia ×

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:

rs17292650

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.010

GeneticVariation

BEFREE

Here we report unique familial cases of CAMT that presented with a previously unreported <i>MPL</i> mutation: T814C (W272R) in the background of the activating <i>MPL</i> G117T (K39N or Baltimore) mutation.

29296828

2017

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:

rs1448812001

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:

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:

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:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

24728327

2014

dbSNP:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

24728327

2014

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:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

21489838

2011

dbSNP:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

CLINVAR

A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population.

21489838

2011

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:

rs587778514

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

CausalMutation

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: clinical and biological consequences of five novel mutations.

17666371

2007

dbSNP:

rs1448812001

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:

rs146249964

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:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

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

16470591

2006

dbSNP:

rs148434485

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:

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

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:

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:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

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:

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:

rs146249964

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

CLINVAR

Thrombocytopenia in c-mpl-deficient mice.

8073287

1994

dbSNP:

rs1006158872

Entrez Id:	4352
Gene Symbol:	MPL

MPL

CUI:	C1327915
Disease:

Congenital amegakaryocytic thrombocytopenia

0.700

GeneticVariation

UNIPROT