Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 GeneticVariation disease UNIPROT A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 15220921 2004
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 Biomarker disease GENOMICS_ENGLAND A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. 15220921 2004
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 CausalMutation disease CLINVAR
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 Biomarker disease CTD_human
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C4017171
Disease: TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 3, PHOTOSENSITIVE 		0.700 GeneticVariation disease CLINVAR
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report. 30359777 2019
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 AlteredExpression disease BEFREE Using quantitative imaging of TFIIH in living mouse cells, we found that these molecules reduce the intracellular concentration of TFIIH and its transcriptional activity to levels similar to that observed in individuals with trichothiodystrophy owing to mutated <i>TTD-A</i> Our results provide a proof of concept of fragment-based drug discovery, demonstrating the utility of small molecules for targeting p8 dimerization to modulate the transcriptional machinery, an approach that may help inform further development in anticancer therapies. 30068551 2018
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 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
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 AlteredExpression disease BEFREE TFIIH-dependent MMP-1 overexpression in trichothiodystrophy leads to extracellular matrix alterations in patient skin. 25605938 2015
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE Trichothiodystrophy group A: a first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene. 24986372 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 Biomarker disease BEFREE Based on analyzing TTD group A patient derived cells it was initially thought that TTDA has only a NER-stimulating role. 25016283 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE To further grasp the molecular mechanisms that govern transcription, we focused our attention on the general transcription factor TFIIH, which gives rise, once mutated, to Trichothiodystrophy (TTD), a rare autosomal premature-ageing disease causing inter alia, metabolic dysfunctions. 25340339 2014
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE Trichothiodystrophy group A (TTD-A) patients carry a mutation in the transcription factor II H (TFIIH) subunit TTDA. 23729738 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE Inactivating mutations in the smallest 8-kDa TFB5/TTDA subunit cause the neurodevelopmental progeroid repair syndrome trichothiodystrophy A (TTD-A). 23637614 2013
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 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: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE TTD group A (TTD-A) patients carry mutations in the smallest TFIIH subunit, TTDA, which is an 8-kDa protein that dynamically interacts with TFIIH. 21730288 2011
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 AlteredExpression disease BEFREE Ongoing investigations on TTD are elucidating not only the pathogenesis of the disease, which appears to be mainly related to transcriptional impairment, but also the modalities of NER and transcription in human cells and how TFIIH operates in these two fundamental cellular processes. 19931493 2010
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 Biomarker disease BEFREE Moreover, mutations in any of these three TFIIH subunits also disturb the overall architecture of the TFIIH complex and its ability to transactivate certain nuclear receptor-responsive genes, explaining in part, some of the TTD phenotypes. 19808800 2009
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 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: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE Patients with the rare neurodevelopmental repair syndrome known as group A trichothiodystrophy (TTD-A) carry mutations in the gene encoding the p8 subunit of the transcription and DNA repair factor TFIIH. 19172752 2008
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 GeneticVariation disease BEFREE p8/TTDA overexpression enhances UV-irradiation resistance and suppresses TFIIH mutations in a Drosophila trichothiodystrophy model. 19008953 2008
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 AlteredExpression disease BEFREE Mutations in three of the genes encoding the XPB, XPD and TTDA components of transcription factor TFIIH can result in the clinical phenotype of trichothiodystrophy (TTD). 18579452 2008
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 Biomarker 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
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		0.400 Biomarker disease BEFREE The gene responsible for the TTD-A group of the DNA repair deficient disease trichothiodystrophy has been identified as a small, 8 kDa, component of the transcription factor TFIIH which contributes to the stability and concentration of TFIIH in vivo. 15590337 2005