Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.310 GeneticVariation group BEFREE Mutations in the XPD subunit of the transcription/DNA repair factor (TFIIH) give rise to trichothiodystrophy (TTD), a rare hereditary multisystem disorder with skin abnormalities. 23221806 2013
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
0.310 Biomarker group CTD_human Polymorphisms in XPD (Asp312Asn and Lys751Gln) genes, sunburn and arsenic-related skin lesions. 17470448 2007