Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. 28111891 2017
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Thrombin activation of protein C requires prior processing by a liver proprotein convertase. 28468828 2017
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis. 27172833 2016
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease 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
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease UNIPROT Molecular characterization of p.Asp77Gly and the novel p.Ala163Val and p.Ala163Glu mutations causing protein C deficiency. 25618265 2015
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients. 24028705 2014
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 24162787 2014
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Common genetic risk factors for venous thrombosis in the Chinese population. 23332921 2013
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population. 22817391 2012
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. 22545135 2012
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood. 19822351 2010
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 18954896 2009
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Activated protein C. 17635713 2007
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. 17152060 2007
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Multifunctional specificity of the protein C/activated protein C Gla domain. 16867987 2006
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. 15978566 2005
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR [Type I hereditary protein C deficiency due to C5498T mutation in protein C gene]. 14642106 2003
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Molecular genetic analysis of severe protein C deficiency. 10942114 2000
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies. 9840027 1998
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR 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
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease 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
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 CausalMutation disease CLINVAR Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. 8807339 1996
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease 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
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease UNIPROT Six different point mutations in seven Danish families with symptomatic protein C deficiency. 7792728 1995
CUI: C2674321
Disease: Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant
Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant 		0.600 GeneticVariation disease CLINVAR Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. 7482420 1995