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: C0042798
Disease: Low Vision
Low Vision
0.010 GeneticVariation disease BEFREE The peripherin/RDS gene mutation F211L is associated with a clinical phenotype and includes early loss of rod function and successive reduction of cone function with increasing age, but impressively well-preserved visual acuity and visual fields in young and middle-aged patients and moderately reduced vision in the old patient. 9587927 1998