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: rs1047768
rs1047768
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		0.010 GeneticVariation BEFREE We evaluated the associations between six single nucleotide polymorphisms (SNPs) in XPG (rs1047768 T>C, rs2296147 T>C, rs2227869 G>C, rs2094258 C>T, rs751402 C>T, and rs873601 G>A) and cancer risk. 28416771 2017
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: 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: 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: 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 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 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 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 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 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 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: 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: 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: 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: 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: rs121434575
rs121434575
Entrez Id: 2073;100533467
Gene Symbol: ERCC5;BIVM-ERCC5
ERCC5;BIVM-ERCC5
CUI: C0268141
Disease:
Xeroderma pigmentosum, group G 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121434575
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: rs121434575
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: rs121434575
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: rs121434575
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: rs121434575
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: rs121434575
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
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: 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