Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1654637
Disease: androgen independent prostate cancer
androgen independent prostate cancer 		0.010 AlteredExpression disease BEFREE Importantly, we also demonstrate that altered p44 expression is associated with androgen-independent prostate cancer. 18356297 2008
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 GeneticVariation disease BEFREE Consistently, mice lacking one allele of the p44 gene developed prostatic hyperplasia. 17032745 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 AlteredExpression disease BEFREE In this report, we examined the expression and function of p44 in breast cancer. 19840198 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 GeneticVariation disease BEFREE These include four loci that were associated (unadjusted P<0.05) with breast cancer (GTF2H2, ZNF385B, NAALADL2 and PSG5), and two loci associated with ovarian cancer (CYP2A7 and OR2A1). 28145423 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 Biomarker phenotype BEFREE In this review, we will be exploring the new insights in scientific research on the functioning of the NER pathway, the role of TFIIH as the central complex of NER, the pivotal helicase XPD as the lynchpin of NER and the effects of various single nucleotide polymorphisms (SNPs) of XPD on its functioning and their consequent role in colorectal carcinogenesis. 29616226 2018
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 Biomarker phenotype BEFREE These findings strongly suggest that p44 plays a role in mediating the effects of hormones during tumorigenesis in breast. 19840198 2010
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 AlteredExpression phenotype BEFREE Altered expression of target genes is associated with re-activation of PRMT5 and p44 during lung tumorigenesis. 27480244 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.040 Biomarker phenotype BEFREE Apart from its role in basal transcription, TFIIH is intimately implicated in DNA repair and (probably) in cell cycle control (both of which are required to prevent carcinogenesis) as well as having possible roles in other processes. 8791490 1996
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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. 17466625 2007
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Mutation of CSB, CSA, or the TFIIH helicases XPB and XPD can also cause defective TCR and CS. 16246722 2005
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in certain subunits of the DNA repair/transcription factor complex TFIIH are linked to the human syndromes xeroderma pigmentosum (XP), Cockayne's syndrome (CS), and trichothiodystrophy (TTD). 19008953 2008
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Moreover, mutations in the TFIIH subunits XPB and XPD found in Cockayne syndrome impair the interaction of TFIIH with the rDNA, but do not influence initiation complex formation or promoter escape of RNA polymerase I, but preclude the productivity of the enzyme by reducing transcription elongation in vivo and in vitro. 21965540 2012
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Subtle differences in the effects of these different mutations on the many activities of TFIIH and on its stability determine the clinical outcomes, which can be XP, TTD, XP with CS, XP with TTD or COFS. 14726016 2003
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 GeneticVariation disease BEFREE Amino acid sequence analysis of the tryptic digest generated from the 89-kilodalton subunit of BTF2 indicated that this polypeptide corresponded to the ERCC-3 gene product, a presumed helicase implicated in the human DNA excision repair disorders xeroderma pigmentosum and Cockayne's syndrome. 8465201 1993
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mapping disease mutations associated with xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome onto defined communities reveals clustering into three mechanistic classes that affect TFIIH helicase functions, protein interactions and interface dynamics. 31110295 2019
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE Mutations in the DNA-dependent ATPase/helicase subunits of TFIIH, XPB and XPD, are associated with three inherited syndromes as follows: xeroderma pigmentosum with or without Cockayne syndrome and trichothiodystrophy. 10660593 2000
CUI: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 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: C0009207
Disease: Cockayne Syndrome
Cockayne Syndrome 		0.100 Biomarker disease BEFREE A recent report provides a molecular basis for how mutations in the NER endonuclease XPG that affect the interaction of TFIIH might give rise to CS features. 18077223 2008
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: C0271160
Disease: Cortical cataract
Cortical cataract 		0.020 GeneticVariation 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: C0271160
Disease: Cortical cataract
Cortical cataract 		0.020 Biomarker disease BEFREE Mutations in XPG found in XP-G/CS patient cells that prevent the association with TFIIH also resulted in the dissociation of CAK and XPD from the core TFIIH. 17466625 2007
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		0.010 AlteredExpression group BEFREE Mutations in the DNA binding region of XPA were from patients with the more severe disease often associated with neurological complications, whereas mutations in the C-terminal end of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only. 9671271 1998
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: 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