Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.500 GeneticVariation group CLINVAR A comprehensive clinical and biochemical functional study of a novel RPE65 hypomorphic mutation. 18599565 2008
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.500 GeneticVariation group CLINVAR Here we report that the analysis of RPE65 in a collection of about 100 unselected retinal-dystrophy patients of different ethnic origin revealed five that are likely to be pathogenic mutations, including a missense mutation (Pro363Thr), two point mutations affecting splicing (912 + 1G-->T and 65 + 5G-->A) and two small re-arrangements (ins144T and 831del8) on a total of nine alleles of five patients with arCSRD. 9326941 1997
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 CausalMutation group CLINVAR Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. 15258582 2004
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.460 GeneticVariation group CLINVAR
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 GeneticVariation group CLINVAR
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1 		0.420 GeneticVariation group CLINVAR
Entrez Id: 5631
Gene Symbol: PRPS1
PRPS1 		0.400 GeneticVariation group CLINVAR
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.200 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Clinical and molecular characteristics of childhood-onset Stargardt disease. 25312043 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR ABCA4 gene screening by next-generation sequencing in a British cohort. 23982839 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy. 22229821 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Analysis of the ABCA4 gene by next-generation sequencing. 21911583 2011
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.200 GeneticVariation group CLINVAR Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. 20591486 2010
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.200 CausalMutation group CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR An analysis of allelic variation in the ABCA4 gene. 11328725 2001