Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		0.800 Biomarker phenotype GENOMICS_ENGLAND Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping. 20946155 2011
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		0.800 GeneticVariation phenotype UNIPROT Six hundred and twenty-six individuals exhibiting partial or complete coumarin resistance were analyzed by VKORC1 gene sequencing and CYP2C9 haplotyping. 20946155 2011
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		0.800 GeneticVariation phenotype UNIPROT The complex has been proposed to be involved in two heritable human diseases: combined deficiency of vitamin-K-dependent clotting factors type 2 (VKCFD2; Online Mendelian Inheritance in Man (OMIM) 607473), and resistance to coumarin-type anticoagulant drugs (warfarin resistance, WR; OMIM 122700). 14765194 2004
CUI: C0750384
Disease: Coumarin Resistance
Coumarin Resistance 		0.800 Biomarker phenotype CTD_human
CUI: C1843832
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 		0.700 Biomarker disease GENOMICS_ENGLAND Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment. 20946155 2011
CUI: C1843832
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT Site-directed mutagenesis of coumarin-type anticoagulant-sensitive VKORC1: evidence that highly conserved amino acids define structural requirements for enzymatic activity and inhibition by warfarin. 16270630 2005
CUI: C1843832
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 		0.700 Biomarker disease CTD_human Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
CUI: C1843832
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2 		0.700 GeneticVariation disease UNIPROT Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.370 Biomarker group CTD_human The haplotype of VKORC1 may serve as a novel genetic marker for the risk of stroke, coronary heart disease, and aortic dissection. 16549638 2006
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.340 Biomarker disease CTD_human The haplotype of VKORC1 may serve as a novel genetic marker for the risk of stroke, coronary heart disease, and aortic dissection. 16549638 2006
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.320 Biomarker group CTD_human We hypothesized that VKORC1-dependent effects on the coagulation cascade and atherosclerosis would contribute to susceptibility for vascular diseases. 16549638 2006
CUI: C0005779
Disease: Blood Coagulation Disorders
Blood Coagulation Disorders 		0.310 Biomarker group CTD_human Familial deficiency of vitamin K-dependent clotting factors. 19141161 2008
CUI: C0751956
Disease: Acute Cerebrovascular Accidents
Acute Cerebrovascular Accidents 		0.310 Biomarker disease CTD_human VKORC1 haplotypes are associated with arterial vascular diseases (stroke, coronary heart disease, and aortic dissection). 16549638 2006
CUI: C1848534
Disease: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1 		0.310 GermlineCausalMutation disease ORPHANET Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2. 14765194 2004
CUI: C0040053
Disease: Thrombosis
Thrombosis 		0.300 Biomarker phenotype CTD_human Inhibition of VKORC1 by oral anticoagulants (OACs) is clinically used in therapy and in prevention of thrombosis. 29581108 2018
CUI: C0087086
Disease: Thrombus
Thrombus 		0.300 Biomarker phenotype CTD_human VKORC1 and VKORC1L1 have distinctly different oral anticoagulant dose-response characteristics and binding sites. 29581108 2018
CUI: C0013221
Disease: Drug toxicity
Drug toxicity 		0.300 Biomarker group CTD_human VKORC1 gene polymorphisms and adverse events in Croatian patients on warfarin therapy. 26445138 2015
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		0.300 Biomarker phenotype CTD_human The objective was to determine the impact of VKORC1 polymorphisms on warfarin anticoagulant therapy (stable warfarin maintenance dose, time required to reach therapeutic dose and time spent in therapeutic range) and its adverse events (overanticoagulation and bleeding events, time to first overanticoagulation or bleeding event, and therapy for bleeding events) in Croatian patients. 26445138 2015
CUI: C0041755
Disease: Adverse reaction to drug
Adverse reaction to drug 		0.300 Biomarker group CTD_human VKORC1 gene polymorphisms and adverse events in Croatian patients on warfarin therapy. 26445138 2015
CUI: C0019080
Disease: Hemorrhage
Hemorrhage 		0.300 Biomarker phenotype CTD_human [Recurrent thromboses and hemorrhagic complications in patients with antiphospholipid syndrome during therapy with warfarin plus aspirin]. 20597268 2010
CUI: C0003496
Disease: Aortic Rupture
Aortic Rupture 		0.300 Biomarker disease CTD_human VKORC1 haplotypes are associated with arterial vascular diseases (stroke, coronary heart disease, and aortic dissection). 16549638 2006
CUI: C0741160
Disease: Aortic Aneurysm, Ruptured
Aortic Aneurysm, Ruptured 		0.300 Biomarker disease CTD_human VKORC1 haplotypes are associated with arterial vascular diseases (stroke, coronary heart disease, and aortic dissection). 16549638 2006