TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Disease: Macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation. 19262438 2009
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy. 16916875 2007
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE A deletion of Asn169 in the peripherin/RDS protein causes a peculiar form of autosomal dominant macular dystrophy in a large family from the Netherlands. 14557182 2003
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy. 8602784 1996
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE These results indicate that mutations in the rds gene can be expressed as a macular dystrophy, with evidence of primary cone dysfunction and preservation of peripheral rod function. 8302543 1994
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.060 GeneticVariation disease BEFREE Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. 8485576 1993