×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
CausalMutation
CLINVAR
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763 2000
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
10958763 2000
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
9973280 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease.
10090887 1999
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
10508521 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
CausalMutation
CLINVAR
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
9973280 1999
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034 1998
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
9054934 1997
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
Retinal Dystrophies
0.200
GeneticVariation
CLINVAR
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
9295268 1997
×
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
Retinal Dystrophies
0.180
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
Retinal Dystrophies
0.180
CausalMutation
CLINVAR
Biallelic mutation of protocadherin-21 (PCDH21) causes retinal degeneration in humans.
20087419 2010
×
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
Retinal Dystrophies
0.170
CausalMutation
CLINVAR
Prph2 mutations as a cause of electronegative ERG.
24608669 2014
×
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
Retinal Dystrophies
0.170
GeneticVariation
CLINVAR
×
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
Retinal Dystrophies
0.160
CausalMutation
CLINVAR
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders.
17564967 2007
×
Entrez Id: 80184
Gene Symbol: CEP290
CEP290
Retinal Dystrophies
0.160
GeneticVariation
CLINVAR
×
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
Retinal Dystrophies
0.130
CausalMutation
CLINVAR
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
23290749 2013
×
Entrez Id: 9227
Gene Symbol: LRAT
LRAT
Retinal Dystrophies
0.130
GeneticVariation
CLINVAR
×
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
Retinal Dystrophies
0.130
GeneticVariation
CLINVAR
×
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
Retinal Dystrophies
0.120
GeneticVariation
CLINVAR
A missense mutation in the nuclear localization signal sequence of CERKL (p.R106S) causes autosomal recessive retinal degeneration.
18978954 2008
×
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
Retinal Dystrophies
0.120
CausalMutation
CLINVAR
Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26).
14681825 2004
×
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A
Retinal Dystrophies
0.120
GeneticVariation
CLINVAR
×
Entrez Id: 10461
Gene Symbol: MERTK
MERTK
Retinal Dystrophies
0.120
GeneticVariation
CLINVAR
×
Entrez Id: 6101
Gene Symbol: RP1
RP1
Retinal Dystrophies
0.110
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709 2019
×
Entrez Id: 8842
Gene Symbol: PROM1
PROM1
Retinal Dystrophies
0.110
CausalMutation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016
×
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
Retinal Dystrophies
0.110
GeneticVariation
CLINVAR
Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.
26872967 2016