Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
0.020 Biomarker disease BEFREE We applied our newly CRISPR/Cas9 generated human <i>XPF</i> knockout cell line with complete loss of XPF and primary fibroblasts from an XP-G patient (XP20BE) to analyze until now uncharacterized spontaneous mRNA splice variants of these two endonucleases. 29416673 2018
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G
0.020 Biomarker disease BEFREE The xeroderma pigmentosum group G (XPG or ERCC5) and group F (XPF or ERCC4) play an important role in DNA repair, and produce dual incision 3' and 5' to the damaged nucleotide fragment. 21424776 2011