Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 GeneticVariation disease BEFREE More than one hundred different mutations in the gene encoding rhodopsin are associated with a group of retinal degenerations including retinitis pigmentosa, congenital stationary night blindness and retinitis punctata albescens. 15877050 2005
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 GeneticVariation disease ORPHANET Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 GeneticVariation disease BEFREE Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 Biomarker disease CTD_human
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.720 CausalMutation disease CLINVAR
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens. 28764803 2017
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA). 25429852 2015
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. 23929416 2013
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Bothnia dystrophy is a variant of recessive retinitis punctata albescens (RPA) and is caused by a homozygous R234W mutation in the RLBP1 gene. 22171637 2012
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Mutations in RLBP1 were identified in 7 patients with RPA and in 1 patient with FAP and cone dystrophy. 22559933 2012
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 Biomarker disease BEFREE In this study, mutations were sought in RLBP1, which encodes the retinol binding protein CRALBP in patients with typical RPA. 17065479 2006
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GermlineCausalMutation disease ORPHANET Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. 15953459 2005
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. 14718298 2004
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GermlineCausalMutation disease ORPHANET A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. 15234312 2004
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. 15234312 2004
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE These results indicate that mutations in the RLBP1 gene are not responsible for the ARRP or retinitis punctata albescens in this set of Spanish families. 11262646 2001
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE The data suggest that the R150Q mutation in RLBP1 may result in RPA with slow progression. 11453974 2001
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GermlineCausalMutation disease ORPHANET The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens. 10102299 1999
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 GeneticVariation disease BEFREE The phenotype produced by RLBP1 mutations seems to be a form of retinitis punctata albescens. 10102299 1999
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.700 Biomarker disease CTD_human
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.540 GeneticVariation disease BEFREE In this report we studied one sporadic type retinitis punctata albescens patient with the assumption that mutation in the peripherin/RDS gene could contribute to the disease phenotype. 9070228 1997
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.540 Biomarker disease BEFREE To screen for mutations in the rhodopsin, peripherin/RDS, and ROM1 genes in a family affected with retinitis punctata albescens. 8554077 1996