PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Fundus Albipunctatus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.700 GermlineCausalMutation disease ORPHANET A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. 8485575 1993
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.700 Biomarker disease HPO
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.700 GeneticVariation disease ORPHANET
CUI: C0311338
Disease: Fundus Albipunctatus
Fundus Albipunctatus 		0.700 Biomarker disease CTD_human