Source: ALL
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: C0025202
Disease: melanoma
melanoma
0.010 AlteredExpression disease BEFREE The dependence of TFIIH-CAK on sequence-specific MITF and c-MYC constitutes a previously unrecognized mechanism feeding into super-enhancer-driven or other oncogenic transcriptional circuitries, which supports the concept of a transcription-directed therapeutic intervention in melanoma. 30651597 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
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: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE The time from transplantation to biopsy-proven DN (time to diagnosis, TTD) was calculated and analyzed in the context of demographics, serum creatinine, and onset of diabetes. 30326148 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE The time from transplantation to biopsy-proven DN (time to diagnosis, TTD) was calculated and analyzed in the context of demographics, serum creatinine, and onset of diabetes. 30326148 2018
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis
0.010 GeneticVariation disease BEFREE Individuals carrying the TCI/CCI genotype (S-haplotype) of the IL-4 gene are 5 times more susceptible to CP, whereas the CTI/TTD genotype (P-haplotype) confers protection against CP. 28114408 2017
Secondary malignant neoplasm of pancreas
0.010 Biomarker disease BEFREE Gemcitabine-erlotinib versus gemcitabine-erlotinib-capecitabine in the first-line treatment of patients with metastatic pancreatic cancer: Efficacy and safety results of a phase IIb randomised study from the Spanish TTD Collaborative Group. 28222309 2017
Squamous cell carcinoma of the head and neck
0.010 AlteredExpression disease BEFREE Our data further imply that dPWP1 acts synergistically with mTOR signaling to regulate the nucleolar localization of TFIIH, a known elongation factor of Pol I. Ribosome biogenesis is often deregulated in cancer, and we demonstrate that high PWP1 levels in human head and neck squamous cell carcinoma tumors are associated with poor prognosis. 29065309 2017
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
0.010 Biomarker disease BEFREE In order to test if protein levels of GTF2H5 are associated with patients' outcome, we performed GTF2H5 immunohistochemical staining in 139 high-grade serous ovarian carcinomas included in tissue microarrays. 26463438 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: C0037277
Disease: Skin Diseases, Genetic
Skin Diseases, Genetic
0.010 Biomarker group BEFREE Trichothiodystrophy group A (TTD-A) is one of the three types of photosensitive TTD and is a very rare genodermatosis with deficient post-ultraviolet (UV) DNA repair. 24986372 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: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
0.010 Biomarker disease BEFREE Hereditary pancreatic cancer: molecular bases and their application in diagnosis and clinical management: a guideline of the TTD group. 22855135 2012
Secondary malignant neoplasm of colon and/or rectum
0.010 Biomarker disease BEFREE Role of Kras status in patients with metastatic colorectal cancer receiving first-line chemotherapy plus bevacizumab: a TTD group cooperative study. 23174912 2012
CUI: C0031099
Disease: Periodontitis
Periodontitis
0.010 GeneticVariation disease BEFREE The -590, +33, and insertion (TCI) haplotype was associated with a susceptibility to periodontitis (adjusted odds ratio [OR(adjusted)] = 2.68; 95% confidence interval [CI] = 1.50 to 4.80) as was the genotype TCI/CCI (OR(adjusted) = 5.27; 95% CI = 2.28 to 12.18), whereas the TTD (OR(adjusted) = 0.48; 95% CI = 0.26 to 0.91), CTI (OR(adjusted) = 0.28, 95% CI = 0.11 to 0.70), and TTD/CTI (OR(adjusted) = 0.29; 95% CI = 0.08 to 1.13) genotypes were a associated with protection against the development of chronic periodontitis. 20192866 2010
CUI: C0033300
Disease: Progeria
Progeria
0.010 GeneticVariation disease BEFREE Inborn defects in nucleotide excision DNA repair (NER) can paradoxically result in elevated cancer incidence (xeroderma pigmentosum [XP]) or segmental progeria without cancer predisposition (Cockayne syndrome [CS] and trichothiodystrophy [TTD]). 16904611 2006
Xeroderma pigmentosum and Cockayne syndrome complex
0.010 GeneticVariation disease BEFREE The severe xeroderma pigmentosum/Cockayne syndrome (XP/CS) syndrome is caused by mutations in the XPB, XPD and XPG genes that encode the helicase subunits of TFIIH and the 3' endonuclease of nucleotide excision repair (NER). 16167068 2006
CUI: C0878555
Disease: Diffuse panbronchiolitis
Diffuse panbronchiolitis
0.010 GeneticVariation disease BEFREE We have previously reported that the susceptibility gene for DPB could be localized within a 200-kb segment between the S and TFIIH loci in the HLA class I region, using refined microsatellite-based association mapping. 12185533 2002
CUI: C0007682
Disease: CNS disorder
CNS disorder
0.010 GeneticVariation group BEFREE In contrast, mutations in two members of the TFIIH complex, the XPB and XPD genes are generally very severe with both skin and CNS disorders. 10699759 2000
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.010 AlteredExpression disease BEFREE Co-transfection of cdk activating kinase (CAK), the kinase moiety of TFIIH, enhanced AR-mediated transcription in a ligand-dependent manner in human prostate cancer PC-3 and LNCaP cells, and in a ligand-independent manner in human prostate cancer DU145 cells. 10734072 2000