TST, thiosulfate sulfurtransferase, 7263

N. diseases: 91; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy
0.010 GeneticVariation disease BEFREE Serine-27-phenylalanine mutation within the peripherin/RDS gene in a family with cone dystrophy. 9052636 1997