ERCC5, ERCC excision repair 5, endonuclease, 2073

N. diseases: 238; N. variants: 38
Disease: Xeroderma pigmentosum, group G ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation BEFREE The XP65BE maternal allele had a single base missense mutation (G2817A, Ala874Thr) that showed residual ability to complement xeroderma pigmentosum complementation group G cells. 12060391 2002
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT The XP65BE maternal allele had a single base missense mutation (G2817A, Ala874Thr) that showed residual ability to complement xeroderma pigmentosum complementation group G cells. 12060391 2002
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555 2002
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268 2001
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434576
rs121434576
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.710 GeneticVariation UNIPROT Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246 1994
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472 2013
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472 2013
dbSNP: rs9514067
rs9514067
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		T 0.700 GeneticVariation CLINVAR Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method. 15082767 2004
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 12060391 2002
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555 2002
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 12060391 2002
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555 2002
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268 2001
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268 2001
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
dbSNP: rs121434571
rs121434571
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246 1994
dbSNP: rs121434574
rs121434574
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.700 GeneticVariation UNIPROT Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient. 7951246 1994
dbSNP: rs121434570
rs121434570
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434577
rs121434577
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1244074570
rs1244074570
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		T 0.700 CausalMutation CLINVAR