TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Disease: Stargardt's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.020 GeneticVariation phenotype BEFREE Mutations in the peripherin/RDS gene are the major cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus. 17504850 2007
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.020 GeneticVariation phenotype BEFREE A novel p.Trp94X mutation in RDS was found in all three affected members of a two-generation family that was associated with retinitis pigmentosa in the son, pattern dystrophy in the daughter and fundus flavimaculatus in the mother. 16916875 2007