Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype GENOMICS_ENGLAND
Entrez Id: 3698
Gene Symbol: ITIH2
ITIH2 		0.300 Biomarker phenotype GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GermlineCausalMutation phenotype ORPHANET This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease. 20633576 2010
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		0.540 GermlineCausalMutation phenotype ORPHANET This review focuses on the molecular characterization of ABCA4 and ELOVL4 and their role in photoreceptor cell biology and the pathogenesis of Stargardt disease. 20633576 2010
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.500 GeneticVariation phenotype ORPHANET Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. 15712225 2005
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.340 GeneticVariation phenotype ORPHANET
Entrez Id: 8842
Gene Symbol: PROM1
PROM1 		0.310 GermlineCausalMutation phenotype ORPHANET Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. 18654668 2008
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype MGD Retinol dehydrogenase (RDH12) protects photoreceptors from light-induced degeneration in mice. 17032653 2006
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype MGD Mutations in the gene encoding ABCA4 are responsible for Stargardt disease (STGD1), an autosomal recessive retinal degenerative disease that causes severe vision loss. 29145636 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype MGD Insights into the function of Rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in abcr knockout mice. 10412977 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype MGD Other mutant alleles of ABCA4 cause the related diseases, recessive cone-rod dystrophy, and recessive Stargardt macular degeneration. 18515570 2008
Entrez Id: 6785
Gene Symbol: ELOVL4
ELOVL4 		0.540 Biomarker phenotype 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 phenotype MGD Elovl4 5-bp-deletion knock-in mice develop progressive photoreceptor degeneration. 17003453 2006
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker phenotype CTD_human
Entrez Id: 54714
Gene Symbol: CNGB3
CNGB3 		0.500 Biomarker phenotype CTD_human
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation phenotype CLINVAR Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus. 15579991 2004
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation phenotype CLINVAR ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies. 16103129 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene. 22661473 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR Correlation of clinical and genetic findings in Hungarian patients with Stargardt disease. 16303926 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation phenotype CLINVAR Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland. 25472526 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation phenotype CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. 25082885 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR Biochemical defects in ABCR protein variants associated with human retinopathies. 11017087 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation phenotype CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997