Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT. 20062088 2010
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE We conclude that MPL(W515L) occurs in a considerable proportion of acute megakaryoblastic leukaemias with myelofibrosis unrelated to PMF. 19194467 2009
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE Of 217 patients with myelofibrosis, 19 (8.7%) harbored the MPLW515 mutation, 10 (52.6%) with the W515L allele. 18669880 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE Evidence for MPL W515L/K mutations in hematopoietic stem cells in primitive myelofibrosis. 17709604 2008
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE DNA sequence analysis of the exons encoding the transmembrane and juxtamembrane domains of EPOR, MPL, and GCSFR, and comparison with germline DNA derived from buccal swabs, identified a somatic activating mutation in the transmembrane domain of MPL (W515L) in 9% (4/45) of JAKV617F-negative MF. 16834459 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation BEFREE The clinical and haematological phenotype of patients with myelofibrosis harbouring MPL(W515L/K) mutation has not been thoroughly investigated. 17408465 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 CausalMutation CLINVAR MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 16868251 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 CausalMutation CLINVAR MPLW515L is a novel somatic activating mutation in myelofibrosis with myeloid metaplasia. 16834459 2007
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.860 GeneticVariation UNIPROT
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.810 GeneticVariation BEFREE A series of primary and secondary acute myeloid leukaemias (AML) with megakaryoblastic phenotype and myelofibrosis unrelated to PMF (n=12) was analysed for the MPL(W515K/L) mutation by pyrosequencing. 19194467 2009
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.810 GeneticVariation UNIPROT MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 16868251 2007
dbSNP: rs121913616
rs121913616
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0026987
Disease:
Myelofibrosis
0.810 CausalMutation CLINVAR MPL515 mutations in myeloproliferative and other myeloid disorders: a study of 1182 patients. 16868251 2007
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
0.800 CausalMutation CLINVAR The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. 19483125 2009
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
0.800 GeneticVariation UNIPROT The Asn505 mutation of the c-MPL gene, which causes familial essential thrombocythemia, induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. 19483125 2009
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 CausalMutation CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 CausalMutation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
0.800 CausalMutation CLINVAR Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. 14764528 2004
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C3275998
Disease:
THROMBOCYTHEMIA 2
0.800 GeneticVariation UNIPROT Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. 14764528 2004
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 CausalMutation CLINVAR c-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia. 11133753 2001
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 CausalMutation CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
dbSNP: rs121913614
rs121913614
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C0040028
Disease:
Thrombocythemia, Essential
0.720 GeneticVariation BEFREE We developed a novel multiplexed allele-specific PCR assay capable of detecting most recurrent MPL exon 10 mutations associated with primary myelofibrosis and essential thrombocythemia (W515L, W515K, W515A, and S505N) down to a sensitivity of 2.5% mutant allele. 23994117 2014