Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2017
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Mutations in the human myeloproliferative leukemia (MPL) protein gene are known to cause congenital amegakaryocytic thrombocytopenia (CAMT). 27811851 2017
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 CausalMutation disease CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 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 2015
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 GeneticVariation disease CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2015
Congenital amegakaryocytic thrombocytopenia
1.000 Biomarker disease BEFREE Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. 23908116 2013
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
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 GeneticVariation 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 BEFREE A novel nonsense mutation in the MPL gene in congenital amegakaryocytic thrombocytopenia. 21162090 2011
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 GeneticVariation disease BEFREE 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 CLINVAR CAMT is the result of the presence of homozygous or compound heterozygous mutations in the thrombopoietin receptor-encoding gene, MPL. 21489838 2011
Congenital amegakaryocytic thrombocytopenia
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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation 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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations. 18090929 2008
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2008
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE Germline loss-of-function (LOF) JAK3 and MPL mutations cause severe combined immunodeficiency and congenital amegakaryocytic thrombocytopenia, respectively. 18297515 2008
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
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 CausalMutation disease CLINVAR Seven different mutations predicted to lead to a complete loss of function of the thrombopoietin receptor were found in 13 patients belonging to group CAMT I with persistently low platelet counts and a fast progression into pancytopenia. 16470591 2006