Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 CausalMutation disease CLINVAR
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease CTD_human
Entrez Id: 100533467
Gene Symbol: BIVM-ERCC5
BIVM-ERCC5 		0.100 CausalMutation disease CLINVAR
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease GENOMICS_ENGLAND "Effect of the norepinephrine receptor stimulating agent ""clonidine"" on the turnover of 5-hydroxytryptamine in some areas of the rat brain." 1206391 1975
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease BEFREE Microinjection of ERCC5 cDNA specifically restored the defect of xeroderma pigmentosum group G cells (XP-G) as measured by unscheduled DNA synthesis, and XP-G cells stably transformed with ERCC5 cDNA showed nearly normal UV resistance. 7510366 1994
Entrez Id: 2237
Gene Symbol: FEN1
FEN1 		0.020 Biomarker disease BEFREE An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum. 7510366 1994
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease BEFREE Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. 7951246 1994
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease UNIPROT Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. 7951246 1994
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease CLINGEN Here we characterize five XPG sequence alterations and a minor splicing defect in XP-G patient XP125LO. 7951246 1994
Entrez Id: 2237
Gene Symbol: FEN1
FEN1 		0.020 Biomarker disease BEFREE Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2. 8483504 1993
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease CLINGEN 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 		1.000 Biomarker disease BEFREE A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function. 9096355 1997
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease GENOMICS_ENGLAND 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 		1.000 Biomarker disease CLINGEN The known XPG protein function as the 3' nuclease in NER, however, cannot explain the development of CS in certain XP-G patients. 10022922 1999
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease MGD The known XPG protein function as the 3' nuclease in NER, however, cannot explain the development of CS in certain XP-G patients. 10022922 1999
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease BEFREE The known XPG protein function as the 3' nuclease in NER, however, cannot explain the development of CS in certain XP-G patients. 10022922 1999
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268 2001
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 Biomarker disease CLINGEN Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy. 11228268 2001
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease CLINGEN 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 		1.000 Biomarker disease BEFREE The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity. 11841555 2002
Entrez Id: 2073
Gene Symbol: ERCC5
ERCC5 		1.000 GeneticVariation disease UNIPROT Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients. 12060391 2002