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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 Biomarker disease BEFREE MiR-192-5p partially reversed GC cisplatin resistance by targeting ERCC3 and ERCC4, which participate in the NER pathway, suggesting that miR-192-5p may be a potential biomarker and therapeutic target for GC cisplatin resistance. 30854110 2019
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
0.010 Biomarker disease BEFREE MiR-192-5p partially reversed GC cisplatin resistance by targeting ERCC3 and ERCC4, which participate in the NER pathway, suggesting that miR-192-5p may be a potential biomarker and therapeutic target for GC cisplatin resistance. 30854110 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
0.010 Biomarker group BEFREE Drug-induced, proteasome-dependent XPB degradation may be a useful therapeutic approach in cardiovascular diseases driven by inflammation. 29036418 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 AlteredExpression group BEFREE Importantly, SPL treatment decreased whole lung XPB protein levels in a monocrotaline rat model of pulmonary hypertension and reduced inflammatory markers in an observational cohort of PAH patients. 29036418 2018
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 Biomarker disease BEFREE Altogether, we show that NER impacts alkylating agents sensitivity in myeloma cells and identify ERCC3 as a potential therapeutic target in MM. 28588253 2018
Idiopathic pulmonary arterial hypertension
0.010 AlteredExpression disease BEFREE Importantly, SPL treatment decreased whole lung XPB protein levels in a monocrotaline rat model of pulmonary hypertension and reduced inflammatory markers in an observational cohort of PAH patients. 29036418 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: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome
0.010 GeneticVariation disease BEFREE Interestingly, our results also found ERCC2(XPD), ERCC3(XPB) or ERCC5(XPG) mutations in two cases of UV-sensitive syndrome and in two cases with mixed XP/CS phenotypes. 27004399 2016
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
0.010 Biomarker disease BEFREE These results suggest that the XPG-TFIIH complex is involved in transcription elongation and that defects in this association may partly account for Cockayne syndrome in XP-G/CS patients. 26149386 2015
CUI: C0035613
Disease: Rift Valley Fever
Rift Valley Fever
0.010 AlteredExpression disease BEFREE Virulence factor NSs of rift valley fever virus recruits the F-box protein FBXO3 to degrade subunit p62 of general transcription factor TFIIH. 24403578 2014
CUI: C0520680
Disease: Sleep Apnea, Central
Sleep Apnea, Central
0.010 Biomarker disease BEFREE Knockdown of CSA reduces pre-rRNA synthesis by RNA polymerase I. CSA associates with RNA polymerase I and the active fraction of the rDNA and stimulates re-initiation of rDNA transcription by recruiting the Cockayne syndrome proteins TFIIH and CSB. 24781187 2014
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I
0.010 Biomarker disease BEFREE Knockdown of CSA reduces pre-rRNA synthesis by RNA polymerase I. CSA associates with RNA polymerase I and the active fraction of the rDNA and stimulates re-initiation of rDNA transcription by recruiting the Cockayne syndrome proteins TFIIH and CSB. 24781187 2014
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 Biomarker disease BEFREE FUSE-binding protein-interacting repressor (FIR), a splicing variant of PUF60 lacking exon5, is a c-Myc transcriptional target that suppresses the DNA helicase p89 (ERCC3) and is alternatively spliced in colorectal cancer lacking the transcriptional repression domain within exon 2 (FIRΔexon2). 23594796 2013
CUI: C0023530
Disease: Leukopenia
Leukopenia
0.010 PosttranslationalModification disease BEFREE These associations remained the same when ERCC3 promoter methylation and WBCs were dichotomized according to the 90th percentile (≥6%) of methylation levels in controls and a leucopenia cutoff (<4 × 10(9) /L), respectively. 23797950 2013
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE RECQL1 DNA repair helicase: a potential therapeutic target and a proliferative marker against ovarian cancer. 23951333 2013
Malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE FUSE-binding protein-interacting repressor (FIR), a splicing variant of PUF60 lacking exon5, is a c-Myc transcriptional target that suppresses the DNA helicase p89 (ERCC3) and is alternatively spliced in colorectal cancer lacking the transcriptional repression domain within exon 2 (FIRΔexon2). 23594796 2013
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome
0.010 GeneticVariation disease BEFREE XPB and XPD genetic defects can also cause premature aging with profound neurological defects without increased cancers: Cockayne syndrome (CS) and trichothiodystrophy (TTD). 21571596 2011
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.010 GeneticVariation group LHGDN Polymorphisms in the two helicases ERCC2/XPD and ERCC3/XPB of the transcription factor IIH complex and risk of lung cancer: a case-control analysis in a Chinese population. 16835333 2006
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.010 Biomarker disease BEFREE These findings indicate that these tagSNPs of the ERCC2 and ERCC3 along with their surrounding regions may serve as biomarkers of susceptibility to lung cancer, which warrant further validation by other population-based and phenotypic studies to determine the biological relevance of these tagSNPs. 16835333 2006
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE These findings indicate that these tagSNPs of the ERCC2 and ERCC3 along with their surrounding regions may serve as biomarkers of susceptibility to lung cancer, which warrant further validation by other population-based and phenotypic studies to determine the biological relevance of these tagSNPs. 16835333 2006
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
0.010 Biomarker disease BEFREE These findings indicate that these tagSNPs of the ERCC2 and ERCC3 along with their surrounding regions may serve as biomarkers of susceptibility to lung cancer, which warrant further validation by other population-based and phenotypic studies to determine the biological relevance of these tagSNPs. 16835333 2006
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
0.010 GeneticVariation disease BEFREE The syndrome is also associated with mutations of the XPB, XPD and XPG genes. 16648759 2006
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms
0.010 AlteredExpression group LHGDN ERCC3 expression level was significantly correlated with the pathologic stage, tumor size and local invasiveness (t-factor) in esophageal cancer tissues. 15375507 2004