Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041 2018
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). 27811851 2017
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. 26854587 2016
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GermlineCausalMutation disease ORPHANET Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. 24438083 2014
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 Biomarker disease BEFREE Surprisingly, complimentary transduction of MPL into normal or CAMT iPSCs using a retroviral vector showed that MPL overexpression promoted erythropoiesis in normal CD34+ hematopoietic progenitor cells (HPCs), but impaired erythropoiesis and increased aberrant megakaryocyte production in CAMT iPSC-derived CD34+ HPCs, reflecting a difference in the expression of the transcription factor FLI1. 23908116 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE We describe a CAMT patient with compound heterozygous mutations of the causative MPL gene (one being a previously unreported splice site mutation in intron 11) who developed pancytopenia within the first month of life. 23625800 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease CLINVAR Congenital amegakaryocytic thrombocytopenia (CAMT) presenting as severe pancytopenia in the first month of life. 23625800 2013
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 Biomarker disease GENOMICS_ENGLAND Exome sequencing identifies MPL as a causative gene in familial aplastic anemia. 22180433 2012
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE In addition to the clinical importance of recognizing this disorder, characterization of mutations identified in patients with CAMT has led to insights into thrombopoietin receptor structure and function. 21337678 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor. 21162090 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease BEFREE A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 21659346 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GeneticVariation disease 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
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 GermlineCausalMutation disease ORPHANET Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 AlteredExpression disease BEFREE Most of the cases of congenital amegakaryocytic thrombocytopenia are caused by defective expression or function of the thrombopoietin receptor due to homozygous or compound heterozygous mutations in the gene MPL. 19388932 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Familial thrombocytosis caused by the novel germ-line mutation p.Pro106Leu in the MPL gene. 19036112 2009
Entrez Id: 4352
Gene Symbol: MPL
MPL
1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171 2008