Disease: UV-Sensitive Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		0.010 GeneticVariation disease BEFREE We report the identification of a UV(S)S patient (UV(S)S1VI) with a novel mutation in the CSA gene (p.trp361cys) that confers hypersensitivity to UV light, but not to inducers of oxidative damage that are notably cytotoxic in cells from CS patients. 19329487 2009