Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. 23255472

2013
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 12060391

2002
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT Mildly affected xeroderma pigmentosum group G patients have diminished XPG endonuclease activity in nucleotide excision repair, whereas severely affected xeroderma pigmentosum group G/Cockayne syndrome patients produce truncated XPG proteins that are unable to function in either nucleotide excision repair or the transcription-coupled repair of oxidative lesions. 11841555

2002
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268

2001
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254

1999
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT In contrast, two sibling XPG patients without CS are able to make full-length XPG, but with a missense mutation that inactivates its function in NER. 9096355

1997
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		1.000 GeneticVariation UNIPROT Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. 7951246

1994