Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease BEFREE XPF (ERCC4) is an essential component of several DNA repair pathways and XPF-deficient cells are exquisitely sensitive to DNA damaging agents. 21737503 2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 CausalMutation disease CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988 2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease BEFREE Our results suggest that the XPF promoter -357A>C polymorphism may regulate the expression of XPF and thereby contribute to susceptibility to and prognosis of bladder cancer. 20062074 2010
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251 2010
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 CausalMutation disease CLINVAR Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251 2010
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease BEFREE Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients. 20221251 2010
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease BEFREE ERCC4/XPF protein plays an important role in the nucleotide excision repair (NER) pathway, and deficiencies in the gene encoding it can lead to a repair-deficiency syndrome, xeroderma pigmentosum group F (XP-F). 18068852 2008
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease BEFREE In Saccharomyces cerevisiae, orthologs of ERCC1-XPF (Rad10-Rad1) participate in the repair of double-strand breaks (DSBs). 18541667 2008
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease BEFREE DNA was extracted from blood samples and 15 common nonsynonymous SNPs in seven-nucleotide excision repair genes [XPC, RAD23B (hHR23B), CSB (ERCC6), XPD (ERCC2), CCNH, XPF (ERCC4), and XPG (ERCC5)] were genotyped. 16492920 2006
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease CLINGEN Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. 14729965 2004
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease MGD Growth retardation, early death, and DNA repair defects in mice deficient for the nucleotide excision repair enzyme XPF. 14729965 2004
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease BEFREE These findings support the hypothesis that the activities of XPF in nucleotide excision repair (NER) and crosslink repair are separable, and that mutations in XPF patients result in the abolition of NER, but not recombinational repair pathways, which are likely to be essential as has been observed in ERCC1 homozygous -/- mice. 11095693 2000
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease UNIPROT A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy. 10447254 1999
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease CLINGEN Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease UNIPROT Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 CausalMutation disease CLINVAR Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. 9579555 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 AlteredExpression disease BEFREE Sensitivity of group F xeroderma pigmentosum cells to UV and mitomycin C relative to levels of XPF and ERCC1 overexpression. 9862190 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease UNIPROT Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients. 9580660 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease CLINGEN Here we have identified XPF mRNA mutations and examined levels of the mRNA and protein expression in seven primary cell strains from Japanese XP-F patients. 9580660 1998
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease CLINGEN Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827 1996
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827 1996
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 CausalMutation disease CLINVAR Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827 1996
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 GeneticVariation disease UNIPROT Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. 8797827 1996
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease BEFREE Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F. 8253091 1993
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4 		1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum complementation group F in a non-Japanese patient. 3372781 1988