Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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