|(C;C)||0||common in clinvar|
|Disease Association||Defects in ERCC5 are a cause of Cockayne syndrome (CS) (MIM:216400). CS is an autosomal recessive disease which is characterized by a UV-sensitive skin (without pigmentation abnormalities), neurological dysfunction due to demyelination of neurons and calcification of basal ganglia (psychomotor retardation, deafness, optic atrophy, retinal pigmentation and hyperreflexes), and dysmorphic dwarfism (immature sexual development and microcephaly).|
[PMID 20150366] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
[PMID 21426550] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
[PMID 21435719] Impact on response and survival of DNA repair single nucleotide polymorphisms in relapsed or refractory multiple myeloma patients treated with thalidomide
[PMID 21826087] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 16026601] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
[PMID 16094634] Polymorphism of Xeroderma Pigmentosum group G and the risk of lung cancer and squamous cell carcinomas of the oropharynx, larynx and esophagus.
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18767034] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
[PMID 18838045] Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 19318434] Associations between polymorphisms in DNA repair genes and glioblastoma.
[PMID 19661089] Genetic variation in immune regulation and DNA repair pathways and stomach cancer in China.
[PMID 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 24353624] XPG is a novel biomarker of clinical outcome in advanced non-small-cell lung cancer
[PMID 25644244] Association analysis of ERCC5 gene polymorphisms with risk of breast cancer in Han women of northwest China
|CLNSRC||ClinVar University of Chicago|
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.
[PMID 27235448] Haplotype and diplotype analyses of variation in ERCC5 transcription cis-regulation in normal bronchial epithelial cells.