DisGeNET - a database of gene-disease associations

ERCC6, ERCC excision repair 6, chromatin remodeling factor, 2074

N. diseases: 257; N. variants: 91

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:

rs121917905

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0220722
Disease:

Cerebrooculofacioskeletal Syndrome 1

0.800

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs202080674

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs202080674

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs202080674

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

9443879

1998

dbSNP:

rs202080674

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

25820262

2015

dbSNP:

rs202080674

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

29203878

2017

dbSNP:

rs368728467

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs368728467

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

25820262

2015

dbSNP:

rs368728467

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

29203878

2017

dbSNP:

rs368728467

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

9443879

1998

dbSNP:

rs368728467

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs751292948

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs751292948

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

9443879

1998

dbSNP:

rs751292948

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs751292948

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

29203878

2017

dbSNP:

rs751292948

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.800

GeneticVariation

UNIPROT

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

25820262

2015

dbSNP:

rs1184760254

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1365187961

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0009402
Disease:

Colorectal Carcinoma

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1554788393

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.700

GeneticVariation

UNIPROT

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

29203878

2017

dbSNP:

rs1554788393

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.700

GeneticVariation

UNIPROT

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

9443879

1998

dbSNP:

rs1554788393

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.700

GeneticVariation

UNIPROT

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

19894250

2010

dbSNP:

rs1554788393

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.700

GeneticVariation

UNIPROT

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

25820262

2015

dbSNP:

rs1554788393

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0751038
Disease:

Cockayne Syndrome, Type II

0.700

GeneticVariation

UNIPROT

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

10447254

1999

dbSNP:

rs2228526

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0600139
Disease:

Prostate carcinoma

0.020

GeneticVariation

BEFREE

Our study indicates that XPG rs2296147 and CSB rs2228526 polymorphisms are significantly associated with increased risk of prostate cancer, and that combination of XPG rs2296147 T allele and CSB rs2228526 G allele is strongly associated with an increased risk.

24289586

2013

dbSNP:

rs2228526

Entrez Id:	2074
Gene Symbol:	ERCC6

ERCC6

CUI:	C0005695
Disease:

Bladder Neoplasm

0.020

GeneticVariation

BEFREE

In classification and regression tree analysis, we observed gene-gene interactions among CCNH V270A, ERCC6 M1097V and RAD23B A249V in ever smokers: smokers with the variant alleles at these three loci had an almost 30-fold increased risk of bladder cancer [odds ratio (OR): 29.6, 95% confidence interval (CI): 9.3-93.7].

17728339

2007