rs1799801, ERCC4

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE This study aimed to investigate the associations of XPC c.2815A>C, XPD c.934G>A and c.2251A>C, XPF c.2505T>C and ERCC1 c.354C>T single nucleotide polymorphisms (SNPs) of nucleotide excision repair pathway in outcome of head and neck squamous cell carcinoma (HNSCC) patients treated with cisplatin (CDDP) chemoradiation. 26918827 2017
Vomiting
CUI: C0042963
Disease: Vomiting
0.010 GeneticVariation BEFREE GSTP1 c.313A>G, XPD c.934G>A, XPF c.2505T>C and CASP9 c.-1339A>G Polymorphisms and Severity of Vomiting in Head and Neck Cancer Patients treated with Cisplatin Chemoradiation. 28686330 2017
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
0.010 GeneticVariation BEFREE This study aimed to investigate XPF messenger RNA (mRNA) levels in peripheral blood mononuclear cells and protein levels in plasma and to analyze the 30028T/C polymorphism (rs1799801) in ischemic stroke patients and controls. 26888738 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
0.010 GeneticVariation BEFREE This study aimed to investigate XPF messenger RNA (mRNA) levels in peripheral blood mononuclear cells and protein levels in plasma and to analyze the 30028T/C polymorphism (rs1799801) in ischemic stroke patients and controls. 26888738 2016
Malignant neoplasm of stomach
CUI: C0024623
Disease: Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE Our study indicated that polymorphisms in rs180067, rs1799801, rs2276466 and rs744154 may affect the risk of gastric cancer but further large sample size studies are needed to validate any association. 23679285 2013
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.010 GeneticVariation BEFREE Our study indicated that polymorphisms in rs180067, rs1799801, rs2276466 and rs744154 may affect the risk of gastric cancer but further large sample size studies are needed to validate any association. 23679285 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 GeneticVariation BEFREE However, XPF-rs1799801 may be associated with cancer risk in Caucasian populations, which needs to be further validated in single large, well-designed prospective studies. 22768293 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.010 GeneticVariation BEFREE However, XPF-rs1799801 may be associated with cancer risk in Caucasian populations, which needs to be further validated in single large, well-designed prospective studies. 22768293 2012
Squamous cell carcinoma of oropharynx
0.010 GeneticVariation BEFREE Our findings suggest that the ERCC4 T2505C polymorphism may be associated with improved recovery from radiation treatment toxicity in patients with OPSCC. 15936543 2005