Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041 2018
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171 2008
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare autosomal recessive bone marrow failure, caused by MPL gene mutations. 26854587 2016
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE The genetic background of CAMT is mutations in the MPL gene encoding the thrombopoietin receptor. 21162090 2011
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Recently, we and others could define the molecular cause of the rare disease congenital amegakaryocytic thrombocytopenia (CAMT) as mutations in the c-mpl gene (Blood 97: 139, 2001). 12799278 2003
Congenital amegakaryocytic thrombocytopenia
1.000 GermlineCausalMutation disease ORPHANET Functional characterization of c-Mpl ectodomain mutations that underlie congenital amegakaryocytic thrombocytopenia. 24438083 2014
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2016
Congenital amegakaryocytic thrombocytopenia
1.000 AlteredExpression disease BEFREE 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
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with CAMT. 10077649 1999
Congenital amegakaryocytic thrombocytopenia
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