Source: ORPHANET

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: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		disease 0.750 limited 1.000 2 0 1997 2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		disease 0.700 limited 1.000 1 0 1993 1993
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1405854
Disease: Retinitis punctata albescens (disorder)
Retinitis punctata albescens (disorder) 		disease 0.540 None 1.000 1 0 1993 1997
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1536451
Disease: Central areolar choroidal sclerosis
Central areolar choroidal sclerosis 		disease 0.380 None 1.000 1 0 1995 2019
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease 0.340 None 1.000 2 0 1996 2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 0.340 None 1.000 0 0 2007 2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.320 None 1.000 0 0 2007 2012
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C4509881
Disease: Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus
Multifocal pattern dystrophy of retinal pigment epithelium simulating fundus flavimaculatus 		disease 0.310 None 1.000 1 0 2007 2007
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		disease 0.310 None 1.000 1 0 1993 1996