Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648 2017
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation 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
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2015
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2015
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation 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
dbSNP: rs770457041
rs770457041
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation 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
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266 2013
dbSNP: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation CLINVAR A founder mutation in the MPL gene causes congenital amegakaryocytic thrombocytopenia (CAMT) in the Ashkenazi Jewish population. 21489838 2011
dbSNP: rs121913611
rs121913611
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
dbSNP: rs121913612
rs121913612
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Functional analysis of single amino-acid mutations in the thrombopoietin-receptor Mpl underlying congenital amegakaryocytic thrombocytopenia. 18422784 2008
dbSNP: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 CausalMutation CLINVAR Congenital amegakaryocytic thrombocytopenia: clinical and biological consequences of five novel mutations. 17666371 2008
dbSNP: rs1006158872
rs1006158872
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 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: rs146249964
rs146249964
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation CLINVAR MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006
dbSNP: rs148434485
rs148434485
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 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: rs587778514
rs587778514
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 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: rs758428763
rs758428763
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 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: rs763568293
rs763568293
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation UNIPROT MPL mutations in 23 patients suffering from congenital amegakaryocytic thrombocytopenia: the type of mutation predicts the course of the disease. 16470591 2006