×
Entrez Id:
7439
Gene Symbol:
BEST1
BEST1
0.100
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
169522
Gene Symbol:
KCNV2
KCNV2
0.100
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
23418
Gene Symbol:
CRB1
CRB1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.320
GeneticVariation
disease
BEFREE
We conclude that no pathogenic variations in ELOVL4 and PRPH2 were detected in the Chinese STGD patients.
22948568
2012
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.320
GeneticVariation
disease
BEFREE
Mutations in the peripherin/RDS gene are the major cause of multifocal pattern dystrophy simulating STGD1 /fundus flavimaculatus.
17504850
2007
×
Entrez Id:
5961
Gene Symbol:
PRPH2
PRPH2
0.320
GeneticVariation
disease
ORPHANET
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
0.400
CausalMutation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
8842
Gene Symbol:
PROM1
PROM1
0.400
GermlineCausalMutation
disease
ORPHANET
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
18654668
2008
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
GeneticVariation
disease
BEFREE
Our work investigates the role of two variants in the ELOVL4 gene promoter region, c.-236 C>T (rs240307 ) and c.-90 G>C (rs62407622 ), identified in a patient with STGD in transconfiguration.
29417145
2018
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
Biomarker
disease
BEFREE
Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongation of very long chain fatty acids 4 (ELOVL4 ) and peripherin-2 (PRPH2) genes have been identified in patients with Stargardt macular degeneration (STGD ).
22948568
2012
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
GermlineCausalMutation
disease
ORPHANET
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.
20633576
2010
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
Biomarker
disease
MGD
Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4.
17356513
2007
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
Biomarker
disease
MGD
Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration.
17003453
2006
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
Biomarker
disease
BEFREE
The ELOVL4 transgenic mice thus provide a good model for both STGD and dry age-related macular degeneration, and represent a valuable tool for studies on therapeutic intervention in these forms of blindness.
15749821
2005
×
Entrez Id:
6785
Gene Symbol:
ELOVL4
ELOVL4
0.540
GeneticVariation
disease
BEFREE
Here, we identify a new kindred with dominant STGD and demonstrate genetic linkage to the STGD3 locus.
10486215
1999
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
GeneticVariation
disease
ORPHANET
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15712225
2005
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
GeneticVariation
disease
UNIPROT
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15712225
2005
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
Biomarker
disease
CTD_human
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
54714
Gene Symbol:
CNGB3
CNGB3
0.700
CausalMutation
disease
CLINVAR
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
BEFREE
Stargardt disease (STGD ) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation.
31611143
2020
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
BEFREE
Using targeted exome and whole-exome sequencing, we found that eight families had disease-causing variants in the ABCA4 gene, one family had only one heterozygous variant in the ABCA4 gene, and the remaining three families have not been identified with any disease-causing variants for STGD .
31674661
2020
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
BEFREE
Two mild intronic ABCA4 variants could further explain missing heritability in late-onset STGD1 , distinguishing it from AMD.
31618761
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
Detailed genetic characteristics of an international large cohort of patients with Stargardt disease: ProgStar study report 8.
29925512
2019
×
Entrez Id:
24
Gene Symbol:
ABCA4
ABCA4
1.000
GeneticVariation
disease
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019