Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		0.100 Biomarker phenotype HPO
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 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
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 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 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 All three are genetically complex, with at least eight complementation groups for XP (XP-A to -G and variant), five for CS (CS-A, CS-B, XP-B, XP-D, and XP-G), and three for TTD (XP-B, XP-D, and TTD-A). 11037299 2001
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 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 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 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 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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE First-line cetuximab plus capecitabine in elderly patients with advanced colorectal cancer: clinical outcome and subgroup analysis according to KRAS status from a Spanish TTD Group Study. 22363067 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 Biomarker disease BEFREE TTD consensus document on the diagnosis and management of hereditary colorectal cancer. 20466620 2010
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
CUI: C4024892
Disease: Congenital exfoliative erythroderma
Congenital exfoliative erythroderma 		0.100 Biomarker disease HPO
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		0.100 Biomarker disease HPO
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		0.100 Biomarker disease HPO
CUI: C0158113
Disease: Contracture of joint of hand
Contracture of joint of hand 		0.100 Biomarker disease HPO
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: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		0.100 Biomarker phenotype HPO