DisGeNET - a database of gene-disease associations

ERCC3, ERCC excision repair 3, TFIIH core complex helicase subunit, 2071

N. diseases: 253; N. variants: 28

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:

rs121913046

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C4225344
Disease:

TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE

0.800

CausalMutation

CLINVAR

dbSNP:

rs121913046

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C4225344
Disease:

TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE

0.800

GeneticVariation

UNIPROT

dbSNP:

rs4150416

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1861172
Disease:

Venous Thromboembolism

0.700

GeneticVariation

GWASCAT

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

31420334

2019

dbSNP:

rs2134794

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0200635
Disease:

Lymphocyte Count measurement

0.700

GeneticVariation

GWASDB

The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.

22286170

2012

dbSNP:

rs1011019

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs1011019

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs1566823

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs1566823

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs3768866

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs3768866

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150402

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150402

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150407

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150407

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150441

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150441

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150454

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150454

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150471

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150471

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150474

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150474

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150477

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150477

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0919677
Disease:

Protein C measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010

dbSNP:

rs4150496

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1168438
Disease:

Protein C antigen measurement

0.700

GeneticVariation

GWASDB

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

20802025

2010