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 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 Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. 14517951 2003
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. 25698705 2015
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease. 17277736 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population. 17982420 2007
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE Although extensive genetic studies have identified more than 1000 mutations that cause STGD1 and related ABCA4-associated diseases, few studies have investigated the extent to which mutations affect the biochemical properties of ABCA4. 29847635 2018
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Null missense ABCR (ABCA4) mutations in a family with stargardt disease and retinitis pigmentosa. 11687513 2001
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR G1961E mutant allele in the Stargardt disease gene ABCA4 causes bull's eye maculopathy. 19217903 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease. 23918662 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Novel mutations in of the ABCR gene in Italian patients with Stargardt disease. 19265867 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy. 22025579 2011
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT These findings support the hypothesis that compound heterozygous ABCR mutations are responsible for STGD1 and that some heterozygous ABCR mutations may enhance susceptibility to AMD. 9973280 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. 10206579 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform. 16123440 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE To resolve the spectrum of causative retina-specific ATP-binding cassette transporter gene (ABCA4) gene mutations in Portuguese Stargardt (STGD) patients and compare allele frequencies obtained in this cohort with those of previous population surveys. 19365591 2009
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease UNIPROT We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene. 10958763 2000
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 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 		1.000 GeneticVariation disease CLINVAR The spectrum of retinal phenotypes caused by mutations in the ABCA4 gene. 15614537 2005
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR An informatics approach to analyzing the incidentalome. 22995991 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR Loss of peripapillary sparing in non-group I Stargardt disease. 20696155 2010
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE Mutations in ABCR (ABCA4) have been reported to cause a spectrum of autosomal recessively inherited retinopathies, including Stargardt disease (STGD), cone-rod dystrophy and retinitis pigmentosa. 11726554 2001
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
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease CLINVAR A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508 1999
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		1.000 GeneticVariation disease BEFREE Deep-intronic variants in ABCA4 have been associated with autosomal-recessive Stargardt disease (STGD1), but the exact pathogenic mechanism is unknown. 29526278 2018