Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 Biomarker disease HPO
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease ORPHANET
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease CLINVAR
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 Biomarker disease HPO
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 CausalMutation disease CLINVAR
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 Biomarker disease CTD_human
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 CausalMutation disease CLINVAR
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 Biomarker disease HPO
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 Biomarker disease CTD_human
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.700 Biomarker disease HPO
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.700 GeneticVariation disease ORPHANET
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.700 Biomarker disease CTD_human
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 Biomarker disease BEFREE However, fundus appearance, adaptometric findings, and rhodopsin determinations serve to distinguish fundus albipunctatus from other flecked retina diseases. 3500444 1987
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		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
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.710 GeneticVariation disease ORPHANET Retinitis punctata albescens associated with the Arg135Trp mutation in the rhodopsin gene. 8554077 1996
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 GeneticVariation disease UNIPROT Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. 9326942 1997
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 GeneticVariation disease UNIPROT Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299 1999
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		0.730 GermlineCausalMutation disease ORPHANET Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. 10102299 1999
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease BEFREE Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. 10369264 1999
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 GeneticVariation disease UNIPROT Our results suggest that mutant alleles in RDH5 are a cause of fundus albipunctatus, a rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. 10369264 1999
Entrez Id: 5959
Gene Symbol: RDH5
RDH5 		0.800 CausalMutation disease CLINVAR These findings strongly implicate defects of RDH5 as the cause of fundus albipunctatus and point to a heterogeneity of RDH5 mutations in this form of congenital stationary night blindness with variable expressivity. 10617778 1999