Disease: Photosensitive Trichothiodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT A temperature-sensitive disorder in basal transcription and DNA repair in humans. 11242112 2001
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity. 9758621 1998
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient. 9195225 1997
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene. 9238033 1997
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 Biomarker disease GENOMICS_ENGLAND A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. 9012405 1997
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy. 8571952 1996
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease UNIPROT Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy. 7920640 1994
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 Biomarker disease GENOMICS_ENGLAND [Quantitative electron microscopy of the normal human lymphocyte (author's transl)]. 601675 1977
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 CausalMutation disease CLINVAR
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 GeneticVariation disease CLINVAR
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		0.700 Biomarker disease CTD_human