Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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 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 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 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 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 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 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 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 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 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 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 CausalMutation disease CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
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 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 CausalMutation disease CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
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 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 GeneticVariation disease BEFREE Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). 11071383 2000
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Compound heterozygosity for two different amino-acid substitution mutations in the thrombopoietin receptor (c-mpl gene) in congenital amegakaryocytic thrombocytopenia (CAMT). 11071383 2000
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 The present study suggests that at least a certain type of CAMT is caused by the c-mpl mutation, which disrupts the function of thrombopoietin receptor. 10077649 1999
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. 10077649 1999
Congenital amegakaryocytic thrombocytopenia
1.000 CausalMutation disease CLINVAR 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 Identification of mutations in the c-mpl gene in congenital amegakaryocytic thrombocytopenia. 10077649 1999