TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Disease: Adult-Onset Vitelliform Macular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.040 GeneticVariation disease BEFREE To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. 18050133 2008
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.040 Biomarker disease BEFREE Mutations in the genes encoding peripherin/RDS and VMD2 have been previously reported in some subjects with AVMD. 16885924 2006
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.040 GeneticVariation disease BEFREE We describe a frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members. 12566026 2003
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		0.040 GeneticVariation disease BEFREE To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. 9338584 1997