DisGeNET - a database of gene-disease associations

ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38

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:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

23255472

2013

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

23255472

2013

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

23255472

2013

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

12060391

2002

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

11841555

2002

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

11841555

2002

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

12060391

2002

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.

12060391

2002

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.

11841555

2002

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

11228268

2001

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

11228268

2001

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.

11228268

2001

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

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

10447254

1999

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

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

10447254

1999

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

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

10447254

1999

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.

9096355

1997

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

7951246

1994

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

7951246

1994

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

GeneticVariation

UNIPROT

Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.

7951246

1994

dbSNP:

rs121434575

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607280

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

CausalMutation

CLINVAR

dbSNP:

rs267607281

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.800

CausalMutation

CLINVAR

dbSNP:

rs121434576

Entrez Id:	2073;100533467
Gene Symbol:	ERCC5;BIVM-ERCC5

ERCC5;BIVM-ERCC5

CUI:	C0268141
Disease:

Xeroderma pigmentosum, group G

0.710

GeneticVariation

UNIPROT

Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.

23255472

2013