DisGeNET - a database of gene-disease associations

VKORC1, vitamin K epoxide reductase complex subunit 1, 79001

N. diseases: 89; N. variants: 15

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894539

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

20946155

2011

dbSNP:

rs104894540

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

20946155

2011

dbSNP:

rs104894541

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

20946155

2011

dbSNP:

rs104894539

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

14765194

2004

dbSNP:

rs104894540

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

14765194

2004

dbSNP:

rs104894541

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

GeneticVariation

UNIPROT

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

14765194

2004

dbSNP:

rs104894539

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894540

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

CausalMutation

CLINVAR

dbSNP:

rs104894541

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.800

CausalMutation

CLINVAR

dbSNP:

rs72547528

Entrez Id:	79001;339105
Gene Symbol:	VKORC1;PRSS53

VKORC1;PRSS53

CUI:	C1843832
Disease:

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs72547528

Entrez Id:	79001;339105
Gene Symbol:	VKORC1;PRSS53

VKORC1;PRSS53

CUI:	C1843832
Disease:

VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2

0.800

GeneticVariation

UNIPROT

dbSNP:

rs61742245

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

BEFREE

One SCD individual who had a stroke was a carrier of the pathogenic variant p.Asp36Tyr in the VKORC1 gene which is, associated with warfarin resistance.

30183354

2018

dbSNP:

rs61742245

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

BEFREE

The same patient was heterozygous to VKORC1 Asp36Tyr polymorphism (rs61742245) that predisposes to warfarin resistance.

28889200

2017

dbSNP:

rs72547529

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

BEFREE

Displacement of Arg37 occurs in the Val66Met mutant, blocking access of warfarin (but not KO) to Site-1, consistent with clinical observation of warfarin resistance.

26513304

2016

dbSNP:

rs61742245

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

UNIPROT

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

20946155

2011

dbSNP:

rs72547529

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

BEFREE

Mutation analysis identified a Val66Met substitution in vitamin K epoxide reductase complex subunit 1 (VKORC1), consistent with severe warfarin resistance.

20211925

2011

dbSNP:

rs61742245

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

UNIPROT

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

14765194

2004

dbSNP:

rs72547529

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.720

GeneticVariation

UNIPROT

dbSNP:

rs8050894

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0424621
Disease:

Body Fat Distribution

0.700

GeneticVariation

GWASCAT

Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

30664634

2019

dbSNP:

rs104894542

Entrez Id:	79001;339105
Gene Symbol:	VKORC1;PRSS53

VKORC1;PRSS53

CUI:	C0750384
Disease:

Coumarin Resistance

0.700

GeneticVariation

UNIPROT

Thirteen novel VKORC1 mutations associated with oral anticoagulant resistance: insights into improved patient diagnosis and treatment.

20946155

2011

dbSNP:

rs104894542

Entrez Id:	79001;339105
Gene Symbol:	VKORC1;PRSS53

VKORC1;PRSS53

CUI:	C0750384
Disease:

Coumarin Resistance

0.700

GeneticVariation

UNIPROT

Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2.

14765194

2004

dbSNP:

rs755767348

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.700

GeneticVariation

UNIPROT

dbSNP:

rs770703948

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0750384
Disease:

Coumarin Resistance

0.700

GeneticVariation

UNIPROT

dbSNP:

rs2359612

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0007820
Disease:

Cerebrovascular Disorders

0.020

GeneticVariation

BEFREE

VKORC1 rs2359612 and rs9923231 polymorphisms correlate with high risks of cardiovascular and cerebrovascular diseases.

26600534

2015

dbSNP:

rs2359612

Entrez Id:	79001
Gene Symbol:	VKORC1

VKORC1

CUI:	C0007820
Disease:

Cerebrovascular Disorders

0.020

GeneticVariation

BEFREE

C283 + 837C -> T (rs2359612) genotypes were determined in 49 patients who underwent de novo oral anticoagulation with phenprocoumon for cerebrovascular disease.

19738376

2009