×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
BEFREE
Stargardt disease (On-Line Mendelian Inheritance In Man 242000, STGD1 ) is the most common inherited macular dystrophy .
31318848
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
BEFREE
Antioxidant Saffron and Central Retinal Function in ABCA4 -Related Stargardt Macular Dystrophy .
31618812
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
Biomarker
disease
BEFREE
Generation of the induced pluripotent stem cell line from a patient with autosomal recessive ABCA4 -mediated Stargardt Macular Dystrophy .
30634128
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Clinical and molecular characteristics of childhood-onset Stargardt disease.
25312043
2015
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
Biomarker
disease
BEFREE
Generalized choriocapillaris dystrophy is a progressive ABCA4 -associated phenotype characterized by early-onset macular dystrophy that disperses and expands to widespread end-stage chorioretinal atrophy with profound visual loss.
24713488
2014
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
Biomarker
disease
BEFREE
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
20335603
2010
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
CausalMutation
disease
CLINVAR
Gene symbol: ABCA4. Disease: Macular dystrophy.
20960624
2008
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
BEFREE
Three patients had a Gly1961Glu missense mutation, the most common variant in Stargardt disease (STGD), with 2 of these subjects having a macular dystrophy (MD) phenotype and a second ABCA4 variant previously associated with STGD.
18024811
2007
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene.
15614537
2005
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
14517951
2003
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
11527935
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
Biomarker
disease
BEFREE
The ABCA4 gene has been involved in several forms of inherited macular dystrophy .
11385708
2001
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
BEFREE
Particular interest has focused on the ABCR gene which is responsible for autosomal recessive Stargardt macular dystrophy .
10662806
2000
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
CausalMutation
disease
CLINVAR
Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.
10874631
1999
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
9781034
1998
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
BEFREE
Stargardt disease (STGD , also known as fundus flavimaculatus; FFM ) is an autosomal recessive retinal disorder characterized by a juvenile-onset macular dystrophy , alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material.
9054934
1997
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
0.190
GeneticVariation
disease
CLINVAR
Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration.
9295268
1997
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
GeneticVariation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
GeneticVariation
disease
BEFREE
Mutations in peripherin 2 (PRPH2, also known as Rds), a tetraspanin protein found in photoreceptor outer segments (OSs), cause retinal degeneration ranging from rod-dominant retinitis pigmentosa (RP) to cone-dominant macular dystrophy (MD ).
29961824
2018
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
Biomarker
disease
BEFREE
ABCA4 and ROM1: implications for modification of the PRPH2 -associated macular dystrophy phenotype.
20335603
2010
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
GeneticVariation
disease
BEFREE
Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS : genotype-phenotype correlation.
19262438
2009
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.180
GeneticVariation
disease
BEFREE
To identify suspected RDS mutations in families in which different people have been identified with either generalised retinal dystrophy or macular dystrophy .
16916875
2007