Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 AlteredExpression disease BEFREE Both platinum prodrug and XPF-targeted siRNA are efficiently carried into cells and released; the former damages DNA and the latter specifically downregulates both mRNA and protein levels of XPF to potentiate the platinum drug, leading to enhanced expression levels of apoptosis markers and improved cytotoxicity in both cisplatin-sensitive and -resistant human lung cancer cells. 30843348 2019
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE The XPF (ERCC4) mutation, p.P379S, had an allele frequency of 0.4%, and the XPC mutation, p.P334H, had an allele frequency of 0.3%. 30516811 2019
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE Our results confirm that biallelic ERCC4 mutations cause a cerebellar ataxia-dominant phenotype with mild cutaneous symptoms, possibly accounting for a high proportion of the genetic causes of ARCA in Japan, where XP-F is prevalent. 29403087 2018
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease BEFREE Excision repair cross-complementation group1 (ERCC1) and Xeroderma pigmentosum complementation group F (XPF) were rate-limiting enzyme in nucleotide excision repair (NER) which was known as the most important DNA damage repair system. 28486142 2017
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease CLINVAR Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease CLINGEN Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. 26884178 2016
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE The xeroderma pigmentosum group F (XPF) gene participates in the pathophysiological process of ischemic stroke, and XPF polymorphisms might be associated with ischemic stroke susceptibility. 26888738 2016
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease CLINVAR The ERCC1 and ERCC4 (XPF) genes and gene products. 26074087 2015
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE The ERCC1 point mutation F231L, located at the hydrophobic interaction interface of ERCC1 (excision repair cross-complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to severe NER pathway deficiencies. 26085086 2015
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease CLINVAR Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations. 26453996 2015
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease BEFREE Because protein-protein interactions are essential for NER activity, we transfected human cancer cell lines (A549 and HCT116) with plasmids coding the amino acid sequences corresponding to the interacting domains between excision repair cross-complementation group 1 (ERCC1) and xeroderma pigmentosum, complementation group A (XPA), as well as ERCC1 and xeroderma pigmentosum, complementation group F (XPF), all NER proteins. 25115435 2014
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease CLINGEN Clinical utility gene card for: Xeroderma pigmentosum. 24105368 2014
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease BEFREE In addition, we found that loss of the structure-specific endonuclease ERCC1-XPF (ERCC4) is synthetic lethal with ATR pathway inhibitors. 24662920 2014
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer. 24861646 2014
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 CausalMutation disease CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE We performed a case-control study to assess the relationship between six single nucleotide polymorphisms (SNPs) of xeroderma pigmentosum complementation group F (XPF) on glioma risk in a Chinese population. 23911298 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease BEFREE We conducted a hospital case-control study by genotyping four potential functional single nucleotide polymorphisms (SNPs) to assess the association of Xeroderma pigmentosum complementation group F (XPF) with gastric cancer susceptibility, and role of XPF polymorphisms in combination with H.pylori infection in risk definition. 23679285 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease BEFREE We therefore performed a case-control study to investigate the association of three in excision repair cross-complimentary group 1 (ERCC1) and three in xeroderma pigmentosum complementation group F (XPF) with the risk of breast cancer. 23909490 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 PosttranslationalModification disease BEFREE We conducted an exploratory investigation of whether variation in six common SNPs of xeroderma pigmentosum complementation group F (XPF) is associated with risk of glioma in a Chinese population. 23991957 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease CLINGEN Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease BEFREE The xeroderma pigmentosum group F-cross-complementing rodent repair deficiency group 1 (XPF-ERCC1) complex is a structure-specific endonuclease involved in nucleotide excision repair (NER) and interstrand cross-link (ICL) repair. 22353549 2012
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 GeneticVariation disease CLINVAR Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. 21612988 2011
Entrez Id: 2072
Gene Symbol: ERCC4
ERCC4
1.000 Biomarker disease GENOMICS_ENGLAND Xeroderma pigmentosum. 22044607 2011