eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | xeroderma pigmentosum |
| Comorbidity | C0009207|cockayne syndrome |
| Sentences | 3 |
| PubMedID- 24698781 | Mutations in human xpg gene, homologous to the yeast saccharomyces cerevisiae rad2 gene, give rise to a xeroderma pigmentosum (xp) sometimes associated with cockayne syndrome (cs). |
| PubMedID- 25620205 | Mutations in genes encoding the ercc3 (xpb), ercc2 (xpd), and gtf2h5 (p8 or ttd-a) subunits of the transcription and dna-repair factor tfiih lead to three autosomal-recessive disorders: xeroderma pigmentosum (xp), xp associated with cockayne syndrome (xp/cs), and trichothiodystrophy (ttd). |
| PubMedID- 22952854 | Mutations of this gene have been found in patients suffering from xeroderma pigmentosum (xp) with or without cockayne syndrome (cs) and in two patients suffering from trichothiodystrophy (ttd) [29]. |
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