TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Disease: Cone-Rod Dystrophy 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 GeneticVariation disease BEFREE This is known to contain the RDS gene, which is associated with dominant cone-rod dystrophy. 9425234 1998
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 GeneticVariation disease BEFREE The authors identified a novel Val200Glu mutation of the peripherin/RDS gene in a Japanese family with autosomal dominant cone-rod dystrophy (CRD). 8912967 1996
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		0.030 GeneticVariation disease BEFREE Four affected members of two Japanese families with autosomal dominant cone-rod dystrophy associated with transversion mutations in codon 244 (Asn244His) and codon (Tyr184Ser) of the peripherin/RDS gene. 8540854 1996