Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1121
Gene Symbol: CHM
CHM 		CHM Rab escort protein 0.592 0.654 1.00
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.440 strong 1.000 1 1 2008 2019