RPGRIP1L, RPGRIP1 like, 23322

N. diseases: 170; N. variants: 39
Disease: Retinal Degeneration ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.300 Biomarker phenotype CTD_human Moreover, we show that RPGRIP1L interacts biochemically with RPGR, loss of which causes retinal degeneration, and that the Thr229-encoded protein significantly compromises this interaction. 19430481 2009