Variant Gene Disease Risk Allele 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
C 0.800 CausalMutation CLINVAR Congenital amegakaryocytic thrombocytopenia: the diagnostic importance of combining pathology with molecular genetics. 18240171 2008
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases. 28859041 2018
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 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: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 GeneticVariation CLINVAR
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR In a previous study, we identified four missense mutations in CAMT patients, predicting Arg102Pro, Pro136His, Arg257Cys and Pro635Leu. 18422784 2008
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations. 21659346 2011
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: functional characterization and a review of the literature. 19302922 2009
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR Three parameters, plasma thrombopoietin levels, plasma glycocalicin levels and megakaryocyte culture, distinguish between different causes of congenital thrombocytopenia. 11972523 2002
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 0.800 CausalMutation CLINVAR Mutations in the thrombopoietin receptor, Mpl, in children with congenital amegakaryocytic thrombocytopenia. 10971406 2000
dbSNP: rs28928907
rs28928907
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
C 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
C 0.800 CausalMutation CLINVAR The thrombopoietin receptor P106L mutation functionally separates receptor signaling activity from thrombopoietin homeostasis. 25538044 2015
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.800 GeneticVariation UNIPROT
dbSNP: rs28928908
rs28928908
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.800 CausalMutation CLINVAR
dbSNP: rs1196161699
rs1196161699
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.710 GeneticVariation BEFREE F104S c-Mpl responds to a transmembrane domain-binding thrombopoietin receptor agonist: proof of concept that selected receptor mutations in congenital amegakaryocytic thrombocytopenia can be stimulated with alternative thrombopoietic agents. 20188141 2010
dbSNP: rs1196161699
rs1196161699
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.710 GeneticVariation UNIPROT
dbSNP: rs1006158872
rs1006158872
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
0.700 GeneticVariation UNIPROT
dbSNP: rs121913610
rs121913610
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913611
rs121913611
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913612
rs121913612
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs121913613
rs121913613
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 CausalMutation CLINVAR
dbSNP: rs121913615
rs121913615
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
T 0.700 CausalMutation CLINVAR
dbSNP: rs1343123940
rs1343123940
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1343123940
rs1343123940
Entrez Id: 4352
Gene Symbol: MPL
MPL
CUI: C1327915
Disease:
Congenital amegakaryocytic thrombocytopenia
A 0.700 CausalMutation CLINVAR
dbSNP: rs1448812001
rs1448812001
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