Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 Biomarker disease GENOMICS_ENGLAND Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 18024606 2007
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 GeneticVariation disease UNIPROT Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients. 16470591 2006
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 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 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 MGD Role of the distal half of the c-Mpl intracellular domain in control of platelet production by thrombopoietin in vivo. 10611229 2000
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 Biomarker disease CTD_human
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 CLINVAR Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients. 16470591 2006
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 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 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 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 CausalMutation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
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
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 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 CausalMutation disease CLINVAR Using in vitro assays with hematopoietic progenitors from patients of both patient groups we could provide experimental evidence for a residual activity of the thrombopoietin receptor in CAMT II patients. 16470591 2006
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 CausalMutation disease CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
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 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 CausalMutation disease CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
Entrez Id: 4352
Gene Symbol: MPL
MPL 		1.000 GeneticVariation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
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