Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. 25618265 2015
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations. 25748729 2015
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels. 9798967 1998
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Two novel (R(-11)C; T394D) and two repeat missense mutations in the protein C gene associated with venous thrombosis in six kindreds. 8829639 1996
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Protein C Osaka 10 with aberrant propeptide processing: loss of anticoagulant activity due to an amino acid substitution in the protein C precursor. 8560401 1995
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Six different point mutations in seven Danish families with symptomatic protein C deficiency. 7792728 1995
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Six missense mutations associated with type I and type II protein C deficiency and implications obtained from molecular modelling. 7865674 1994
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT A Gla domain mutation (Arg 15-->Trp) in the protein C (PROC) gene causing type 2 protein C deficiency and recurrent venous thrombosis. 8499568 1993
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Genetic mutations in ten unrelated American patients with symptomatic type 1 protein C deficiency. 8292730 1993
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Symptomatic type II protein C deficiency caused by a missense mutation (Gly 381-->Ser) in the substrate-binding pocket. 8398832 1993
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Two novel mutations responsible for hereditary type I protein C deficiency: characterization by denaturing gradient gel electrophoresis. 1301959 1992
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. 1511989 1992
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Protein CVermont: symptomatic type II protein C deficiency associated with two GLA domain mutations. 1347706 1992
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. 1868249 1991
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis. 2602169 1989
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.800 GeneticVariation UNIPROT Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. 2437584 1987
dbSNP: rs121918152
rs121918152
Entrez Id: 5624;105373608
Gene Symbol: PROC;LOC105373608
PROC;LOC105373608
CUI: C2674321
Disease:
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		T 0.800 CausalMutation CLINVAR