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:

rs121913045

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913047

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs121913048

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs138385061

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs138385061

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C1384666
Disease:

hearing impairment

0.700

CausalMutation

CLINVAR

dbSNP:

rs1558964705

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs34295337

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs34295337

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

GeneticVariation

CLINVAR

dbSNP:

rs587778281

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs866379139

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0268136
Disease:

Xeroderma pigmentosum, group B

0.700

CausalMutation

CLINVAR

dbSNP:

rs4150403

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0278996
Disease:

Malignant Head and Neck Neoplasm

0.010

GeneticVariation

BEFREE

Among Whites, rs4150403 on ERCC3 was associated with increased HNC odds (AA+AG vs. GG; OR, 1.28; 95% CI, 1.01-1.61).

23720401

2013

dbSNP:

rs4150403

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C3887461
Disease:

Head and Neck Carcinoma

0.010

GeneticVariation

BEFREE

Among Whites, rs4150403 on ERCC3 was associated with increased HNC odds (AA+AG vs. GG; OR, 1.28; 95% CI, 1.01-1.61).

23720401

2013

dbSNP:

rs4150506

Entrez Id:	2071
Gene Symbol:	ERCC3

ERCC3

CUI:	C0024305
Disease:

Lymphoma, Non-Hodgkin

0.010

GeneticVariation

BEFREE

Five SNPs (BLM rs441399, RAD50 rs2237060, FAM82A2 rs2304583, ERCC3 rs4150506, and XRCC4 rs13178127) were particularly noteworthy because their gene regions were significantly associated with NHL or NHL subtypes (minP ≤ 0·05), or because of high level of statistical significance (P ≤ 0·005) and consistent findings across the three studies.

20813000

2010

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