Disease: Familial thrombocytosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE Hereditary thrombocythemia (HT) has been described as a rare benign disorder caused by mutations in the thrombopoietin (THPO) or the c-Mpl receptor genes. 22453305 2012
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE Background The MPL(Ser505Asn) mutation has been reported to be a cause of hereditary thrombocythemia. 19713221 2010
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE Hereditary thrombocythemia is a rare autosomal dominant disorder caused by mutations in either the thrombopoietin gene (TPO) or its receptor c-MPL. 19553636 2009
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE The recurrent MPL-S505N mutation found in the eight Italian families with hereditary thrombocythemia is likely due to a founder effect. 19608689 2009
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE In a group of 36 Mexican mestizo patients with MPN, we studied five molecular markers: The BCR/ABL1 fusion gene, the JAK2 V617F mutation, the JAK2 exon 12 mutations, the MPL W515L mutation and the MPL W515K mutation; 17 patients with essential thrombocythemia (ET), eight with polycythemia vera (PV), four with primary mielofibrosis (MF), five with undifferentiated MPN, one with primary erythrocytosis and one with familial thrombocytosis. 19843380 2009
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE Germline gain-of-function (GOF) MPL mutation (MPLS505N) causes familial thrombocytosis.Somatic JAK3 (e.g. 18297515 2008
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GeneticVariation disease BEFREE No abnormality in the TPO/c-Mpl genes has been identified in affected HT family members. 16995886 2006
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 Biomarker disease BEFREE Interestingly, decreased c-MPL and elevated PRV-1 also were observed in patients with hereditary thrombocythemia (HT) who carry a mutation in the thrombopoietin (TPO) gene. 12730106 2003
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 Biomarker disease BEFREE By linkage analysis, we excluded MPL as the cause of HT in the Spanish family. 10930985 2000
CUI: C4303761
Disease: Familial thrombocytosis
Familial thrombocytosis 		0.390 GermlineCausalMutation disease ORPHANET