TSPAN7, tetraspanin 7, 7102

N. diseases: 87; N. variants: 2
Disease: Cone Dystrophy ×
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 These findings open new avenues of research to explore the biological role of the LE in the biosynthetic pathway and the etiology of cone dystrophy caused by PRPH2 mutations and/or malfunctions of the LE.<b>SIGNIFICANCE STATEMENT</b> Peripherin 2 (PRPH2) is a tetraspanin protein abundantly expressed in the light-sensing cilium, the outer segment, of the vertebrate photoreceptor. 30819798 2019