PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: LEBER CONGENITAL AMAUROSIS 18 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.300 Biomarker phenotype MGD Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene. 11978760 2002
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.300 Biomarker phenotype MGD Development and degeneration of retina in rds mutant mice: photoreceptor abnormalities in the heterozygotes. 3830736 1985
CUI: C4013102
Disease: LEBER CONGENITAL AMAUROSIS 18
LEBER CONGENITAL AMAUROSIS 18 		0.300 CausalMutation phenotype CLINVAR