Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation 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
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease. 18977788

2009

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT One hundred eighteen unrelated patients with recessive Stargardt macular degeneration and eight with recessive CRD were screened for mutations in ABCR (ABCA4) by single-strand conformation polymorphism analysis. 11527935

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4). 11379881

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Based on recent studies of the photoreceptor-specific ABC transporter gene ABCR (ABCA4) in Stargardt disease (STGD1) and other retinal dystrophies, we and others have developed a model in which the severity of retinal disease correlates inversely with residual ABCR activity. 11379881

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT To determine the spectrum of ABCR mutations associated with Stargardt macular degeneration and cone-rod degeneration (CRD). 11527935

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1). 11594993

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT An analysis of allelic variation in the ABCA4 gene. 11328725

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration. 11527935

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT In order to further characterize the complex genotype-phenotype relationships involving this gene, we have performed a mutation analysis of ABCA4 in 14 Spanish patients comprising eight STGD (Stargardt), four FFM (fundus flavimaculatus), and two CRD (Cone-rod dystrophy) patients. 11385708

2001

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Finally, we report pseudodominance of Stargardt disease in a family with the 2588 C mutation, further supporting a high frequency of carriers for ABCR mutations in our population. 10746567

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. 10090887

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance. 10746567

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT To assess the mutation spectrum in the ABCR gene and clinical phenotypes in Italian families with autosomal recessive Stargardt disease (STGD1) and fundus flavimaculatus (FFM). 10711710

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Several reports have shown that mutations in the ABCR gene can lead to Stargardt disease (STGD)/fundus flavimaculatus (FFM), autosomal recessive retinitis pigmentosa (arRP), and autosomal recessive cone-rod dystrophy (arCRD). 10634594

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease. 10711710

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Stargardt disease is a recessively transmitted disease caused by mutations in the ABCR gene. 10746567

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration. 10958763

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT In 40 western European patients with Stargardt disease (STGD), we found 19 novel mutations in the retina-specific ATP-binding cassette transporter (ABCR) gene, illustrating STGD's high allelic heterogeneity. 10090887

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Patients from southern Italy with Stargardt disease show extensive allelic heterogeneity of the ABCR gene, concordant with previous observations in patients with STGD1 from different ethnic groups. 10711710

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Fifty-six patients exhibiting the STGD/FFM phenotype, 6 with arRP, and 8 with arCRD, were screened for mutations in the 50 exons of the ABCR gene by heteroduplex analysis and direct sequencing. 10634594

2000

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT We have identified both a previously described and a novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. 10612508

1999

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease. 10612508

1999

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT To report the spectrum of ophthalmic findings in patients with Stargardt dystrophy or fundus flavimaculatus who have a specific sequence variation in the ABCR gene. 10206579

1999

Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease
0.980 GeneticVariation UNIPROT Twenty-nine patients with Stargardt dystrophy or fundus flavimaculatus from different pedigrees were identified with possible disease-causing sequence variations in the ABCR gene from a group of 66 patients who were screened for sequence variations in this gene. 10206579

1999