Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease UNIPROT 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
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease UNIPROT 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 Biomarker disease CTD_human
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation 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
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Recently, two heterozygous truncating mutations of the thrombopoietin (TPO) receptor MPL, coded by the c-mpl gene, were identified in a 10-year-old Japanese patient with CAMT transmitted in an autosomal recessive manner. 11071383 2000
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE 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 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 Our previous hematological analysis indicated similarities between human CAMT and murine c-mpl (thrombopoietin receptor) deficiency. 10077649 1999
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Here, we report for the first time two different MPL amino-acid substitutions in a 2-year-old Italian boy with CAMT and compound heterozygosis for two (c-mpl point mutations. 11071383 2000
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 CausalMutation disease CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
Congenital amegakaryocytic thrombocytopenia
1.000 GermlineCausalMutation disease ORPHANET
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 CLINVAR Mutations in the gene for the thrombopoietin receptor MPL were defined as the molecular cause in CAMT patients. 16470591 2006
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 Biomarker disease BEFREE Congenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling. 23908116 2013
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 CausalMutation disease CLINVAR Mutations in the gene for the thrombopoietin receptor MPL were defined as the molecular cause in CAMT patients. 16470591 2006
Congenital amegakaryocytic thrombocytopenia
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
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 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