TSPAN7, tetraspanin 7, 7102

N. diseases: 87; N. variants: 2
Disease: Hereditary macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339508
Disease: Hereditary macular dystrophy
Hereditary macular dystrophy 		0.010 Biomarker disease BEFREE Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD). 29961824 2018