DisGeNET - a database of gene-disease associations

PROC, protein C, inactivator of coagulation factors Va and VIIIa, 5624

N. diseases: 200; N. variants: 63

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:

rs1799810

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C0919677
Disease:

Protein C measurement

0.800

GeneticVariation

GWASCAT

Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

28082259

2017

dbSNP:

rs1799810

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C1168438
Disease:

Protein C antigen measurement

0.800

GeneticVariation

GWASCAT

Identification of Genetic Variants Linking Protein C and Lipoprotein Metabolism: The ARIC Study (Atherosclerosis Risk in Communities).

28082259

2017

dbSNP:

rs121918142

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:

rs121918142

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:

rs121918143

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:

rs121918143

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:

rs121918150

Entrez Id:	5624;105373608
Gene Symbol:	PROC;LOC105373608

PROC;LOC105373608

CUI:	C2676759
Disease:

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

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:

rs121918151

Entrez Id:	5624;105373608
Gene Symbol:	PROC;LOC105373608

PROC;LOC105373608

CUI:	C2676759
Disease:

THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE

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

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

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:

rs121918153

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:

rs121918153

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:

rs121918154

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:

rs121918154

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:

rs142742242

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:

rs142742242

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:

rs757583846

Entrez Id:	5624
Gene Symbol:	PROC

PROC

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:

rs757583846

Entrez Id:	5624
Gene Symbol:	PROC

PROC

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:

rs1158867

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C1168438
Disease:

Protein C antigen measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs1158867

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C0919677
Disease:

Protein C measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs1158867

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C0919677
Disease:

Protein C measurement

0.800

GeneticVariation

GWASCAT

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs1158867

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C1168438
Disease:

Protein C antigen measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs1799810

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C0919677
Disease:

Protein C measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs1799810

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C1168438
Disease:

Protein C antigen measurement

0.800

GeneticVariation

GWASDB

Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

20802025

2010

dbSNP:

rs757583846

Entrez Id:	5624
Gene Symbol:	PROC

PROC

CUI:	C2674321
Disease:

Thrombophilia, Hereditary, Due To Protein C Deficiency, Autosomal Dominant

0.800

CausalMutation

CLINVAR

[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene].

14642106

2003