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 		0.620 GeneticVariation disease BEFREE Homozygous ERCC6/ERCC8 mutations also result in UV-sensitive syndrome. 29057985 2017
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		0.620 Biomarker disease GENOMICS_ENGLAND A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. 25655951 2015
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		0.620 GermlineCausalMutation disease ORPHANET 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		0.620 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
CUI: C1833561
Disease: UV-Sensitive Syndrome
UV-Sensitive Syndrome 		0.620 Biomarker disease CTD_human