Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Congenital amegakaryocytic thrombocytopenia
1.000 Biomarker disease CTD_human
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR Thrombocytopenia in c-mpl-deficient mice. 8073287 1994
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 GeneticVariation disease BEFREE Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE 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 CausalMutation disease CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
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 c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 11972523 2002
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 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 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 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 These disorders are most readily distinguished from each other by the finding of radial aplasia in TAR and the presence of c-MPL mutations in CAMT. 16822462 2006
Congenital amegakaryocytic thrombocytopenia
1.000 Biomarker disease GENOMICS_ENGLAND Diagnosis, genetics, and management of inherited bone marrow failure syndromes. 18024606 2007
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2007
Congenital amegakaryocytic thrombocytopenia
1.000 GeneticVariation disease BEFREE As previously suggested, c-MPL mutation analysis in CAMT patients helps to predict the clinical course and to provide optimal therapy. 18090929 2007
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 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 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 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 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