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 CausalMutation disease 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 disease CLINVAR Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 25283059 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Reduced macular function in ABCA4 carriers. 26261413 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE Stargardt disease (STGD1) due to mutations in the large ABCA4 gene is the most common inherited macular degeneration in humans. 26420842 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Predicting Progression of ABCA4-Associated Retinal Degenerations Based on Longitudinal Measurements of the Leading Disease Front. 26377081 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Quantitative fundus autofluorescence distinguishes ABCA4-associated and non-ABCA4-associated bull's-eye maculopathy. 25283059 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patients. 25346251 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Associations of the G1961E and D2177N variants in ABCA4 and the risk of age-related macular degeneration. 25921964 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease 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 disease CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations. 25712131 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR [The molecular genetic and clinical findings in two probands with Stargardt disease]. 25640233 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease 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 disease CLINVAR [Clinical characterization of the Stargardt disease and molecular exploration of the c.2041C>T mutation (ABCA4 gene) in Tunisian patients]. 24342785 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease BEFREE Complete sequencing of ABCA4 in STGD patients identifies compound heterozygous or homozygous disease-associated alleles in 65-70% of patients and only one mutation in 15-20% of patients. 25082829 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 Biomarker disease BEFREE The authors believe this to be the first reported case of acute bilateral and sequential PED development in a patient with ABCA4-associated STGD1. 23883535 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE We report that ABCA4 mutations cause significantly elevated qAF, consistent with previous reports indicating that increased RPE lipofuscin is a hallmark of STGD1. 24677105 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 CausalMutation disease CLINVAR Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Genetic and clinical analysis of ABCA4-associated disease in African American patients. 25066811 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy. 24444108 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Generalized choriocapillaris dystrophy, a distinct phenotype in the spectrum of ABCA4-associated retinopathies. 24713488 2014
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE This study confirms that ABCA4 mutations lead to a spectrum of retinal degenerations ranging from STGD to CRD or arRP. 24453473 2014