Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0349566
Disease: Squamous cell carcinoma of tongue
Squamous cell carcinoma of tongue
0.010 AlteredExpression disease BEFREE We have demonstrated that the overexpression of TFIIH correlates positively with node metastasis, while XPF correlates negatively with node metastasis; therefore, the expression of XPF and TFIIH had a potential value for predicting the progression of OTSCC patients. 31828418 2020
CUI: C1860224
Disease: ABLEPHARON-MACROSTOMIA SYNDROME
ABLEPHARON-MACROSTOMIA SYNDROME
0.010 Biomarker disease BEFREE Second, the targets of DZ were predicted using the SwissTargetPrediction and STITCH databases; the targets of AMS were also collected from the Drugbank and TTD databases. 31835126 2020
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE Remarkably, these early transcriptional events are affected by TFIIE and TFIIH mutations associated with the developmental disorder, trichothiodystrophy. 31064989 2019
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 Biomarker disease BEFREE This study suggests that certain single nucleotide polymorphisms of nucleotide excision repair genes excision repair cross-complementation group 1 (ERCC1, ERCC2, and ERCC6) predispose women to the development of endometriosis. 31373346 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 Biomarker disease BEFREE Studies from Latin America and the Caribbean, published between 1997 and 2017, reporting TTD and age at diagnosis of patients with retinoblastoma were selected. 31014139 2019
Malignant neoplasm of stomach stage IV
0.010 Biomarker disease BEFREE ERCC1 and ERCC2 overexpression are promising predictive biomarkers for patients with locally advanced or metastatic GC receiving neoadjuvant mFOLFOX-4 chemotherapy and the potential clinical implication is mandatory for further investigation. 31077069 2019
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
0.010 Biomarker phenotype BEFREE GC-MS was used to detect the chemical composition of Compound Anshen essential oil, and the TCMSP, STITCH, TTD, and DrugBank databases were searched to predict and screen the targets of Compound Anshen essential oil in the treatment of insomnia. 31275424 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 Biomarker phenotype BEFREE The aim of this study was to investigate the role of XPD in migration and invasion of hepatocellular carcinoma (HCC) cells. 30627419 2019
Carcinoma of urinary bladder, invasive
0.010 GeneticVariation disease BEFREE In a separate genomic analysis, we detected significantly more likely deleterious somatic ERCC2 missense mutations in primary MIBC tumors in both the discovery (10.9% [36/330] vs 1.8% [1/55], p=0.04) and the validation (15.7% [12/70] vs 0% [0/24], p=0.03) cohort. 30290956 2019
CUI: C0020625
Disease: Hyponatremia
Hyponatremia
0.010 GeneticVariation phenotype BEFREE Two polymorphisms were independently associated with the development of severe hyponatremia among patients carrying the minor allele (vs. patients with major homozygote genotype): TYMS 3'-UTR rs151264360 (odds ratio, 3.64; 95% confidence interval, 1.11-11.9) and XPD rs13181" genes_norm="2068">Lys751Gln rs13181 (odds ratio, 10.1; 95% confidence interval, 1.10-93.3). 30214618 2018
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 GeneticVariation disease BEFREE The XPD rs3810366 polymorphism significantly enhanced Wilms tumor risk (dominant model: adjusted OR = 2.12, 95% CI = 1.26-3.57). 30161024 2018
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
0.010 Biomarker disease BEFREE A panel of 12 genes (e.g., HSP90β, ERG1, GPC3, TKT, ACLY, and NME1 for HCC; SPT2, T4S3, CNX43, TTD1, HBD01 for CC) were detected and partly described for the first time as potential discrimination markers. 29271183 2018
CUI: C0426980
Disease: Motor symptoms
Motor symptoms
0.010 Biomarker phenotype BEFREE Pallidal DBS represents an important treatment option for XPD for the management of motor symptoms. 30481788 2018
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
0.010 GeneticVariation disease BEFREE The aim of the study is to investigate the relation between XPG and XPD gene variants in the DNA repair system and oral squamous cell cancers. 30672443 2018
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.010 GeneticVariation disease BEFREE The XPD rs3810366 polymorphism significantly enhanced Wilms tumor risk (dominant model: adjusted OR = 2.12, 95% CI = 1.26-3.57). 30161024 2018
Hereditary Nonpolyposis Colorectal Cancer
0.010 Biomarker disease BEFREE Our findings revealed that polymorphisms of DNA repair genes that include NUDT1, ERCC2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population. 29664240 2018
Primary cholangiocarcinoma of intrahepatic biliary tract
0.010 Biomarker disease BEFREE A panel of 12 genes (e.g., HSP90β, ERG1, GPC3, TKT, ACLY, and NME1 for HCC; SPT2, T4S3, CNX43, TTD1, HBD01 for CC) were detected and partly described for the first time as potential discrimination markers. 29271183 2018
CUI: C4552100
Disease: Lynch Syndrome
Lynch Syndrome
0.010 Biomarker disease BEFREE Our findings revealed that polymorphisms of DNA repair genes that include NUDT1, ERCC2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population. 29664240 2018
progesterone receptor-negative breast cancer
0.010 GeneticVariation disease BEFREE ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer. 29544444 2018
progesterone receptor-positive breast cancer
0.010 GeneticVariation disease BEFREE ERCC2-rs1799793-AA genotype correlated with ER+ and PR+ breast cancer. 29544444 2018
CUI: C0027430
Disease: Nasal Polyps
Nasal Polyps
0.010 GeneticVariation disease BEFREE In addition, when we stratified ERCC2, ERCC3 and XRCC1 polymorphism genotypes by the median and 75th percentiles of blood-Cd levels, we found also significant interactions between ERCC2 (Lys751Gln) and ERCC3 (7122 A>G) genotypes polymorphism and this metal in association with NP disease. 27838878 2017
CUI: C0027497
Disease: Nausea
Nausea
0.010 GeneticVariation phenotype BEFREE Patients with XPC c.2815AC or CC and XPD c.934GA or AA genotypes had 0.20 and 0.38 less chances of presenting moderate/severe ototoxicity and nausea, respectively. 26918827 2017
CUI: C0028768
Disease: Obsessive-Compulsive Disorder
Obsessive-Compulsive Disorder
0.010 GeneticVariation disease BEFREE XPD Gln+ frequencies were higher in the controls than in the patients, and carriers of the Gln+ genotype showed decreased levels of OCD risk (p < 0.001). 29264886 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE The Investigation of Polymorphisms in DNA Repair Genes (XRCC1, APE1 and XPD) in Women with Polycystic Ovary Syndrome 28610405 2017
CUI: C0042963
Disease: Vomiting
Vomiting
0.010 GeneticVariation phenotype 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