Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE Thus, mutations in TFIIH components may, on top of a repair defect, also cause transcriptional insufficiency, which may explain part of the non-XP clinical features of TTD. 9012405 1997
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 AlteredExpression 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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE Inherited mutations of the TFIIH helicase subunits xeroderma pigmentosum (XP) B or XPD yield overlapping DNA repair and transcription syndromes. 11239393 2001
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 AlteredExpression disease BEFREE The involvement of some if not all of the TFIIH subunits in transcription and repair may explain the heterogeneity of the various and sometimes completely unrelated symptoms observed in xeroderma pigmentosum, Cockayne Syndrome and trichothiodystrophy disorders. 7980491 1994
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE Our results suggested a link between TTD- but not XP-associated XPD mutations, placental maldevelopment and risk of pregnancy complications, possibly due to impairment of TFIIH-mediated functions in placenta. 22234153 2012
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE Mutations in the XPD helicase component of TFIIH can result in the diverse clinical features associated with xeroderma pigmentosum (XP) and trichothiodystrophy (TTD). 11734544 2001
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation 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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE We previously reported that p53-mediated apoptosis is attenuated in primary human fibroblasts from individuals with Xeroderma Pigmentosum (XP) that harbor mutations in the TFIIH DNA helicases XPD or XPB. 10467415 1999
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 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: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 Biomarker disease BEFREE Moreover, when XPD mutations prevent interaction with the p44 subunit of TFIIH, transactivation directed by certain nuclear receptors is inhibited, regardless of TTD versus XP phenotype, thus explaining the overlapping symptoms. 12820975 2003
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 AlteredExpression disease BEFREE We also observed weak constitutive fragility of the RNU1 and RNU2 loci in cells belonging to xeroderma pigmentosum complementation groups B and D (XPB and XPD) which are partially defective in the ERCC2 (XPD) and ERCC3 (XPB) helicase activities shared between the repairosome and the RNA polymerase H basal transcription factor TFIIH. 9557707 1998
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 Biomarker disease BEFREE TFIIH multi-protein complex with its important helicase-Xeroderma Pigmentosum Protein (XPD) serves as the pivotal factor for opening up of the damaged lesion DNA site and carry out the repair process. 29616226 2018
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 AlteredExpression disease BEFREE Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH result in distinct clinical entities, including the cancer-prone xeroderma pigmentosum (XP) and the multisystem disorder trichothiodystrophy (TTD), which share only cutaneous photosensitivity. 25605938 2015
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 Biomarker disease BEFREE Accordingly, defects in specific enzymatic functions typically result in XP, dissociation of the CAK subunit from TFIIH is associated with XP/CS and a more generalized destabilization of TFIIH gives rise to TTD. 18077223 2008
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum 		0.100 GeneticVariation disease BEFREE The subtle transcriptional differences found between various TFIIH variants thus participate in the phenotypic variability observed among XP, XP/CS, and TTD individuals. 25620205 2015