Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders
0.010 AlteredExpression group BEFREE Mutations in the DNA binding region of XPA were from patients with the more severe disease often associated with neurological complications, whereas mutations in the C-terminal end of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only. 9671271 1998