| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.820 | GeneticVariation | UNIPROT | A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | 10612508 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. | 10206579 | 1999 |
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|
0.820 | 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 | 1999 |
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|
0.820 | GeneticVariation | UNIPROT | Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies. | 9781034 | 1998 |
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|
A | 0.820 | CausalMutation | CLINVAR | Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. | 9466990 | 1998 |
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|
0.820 | GeneticVariation | UNIPROT | Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. | 9490294 | 1998 |
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|
0.820 | GeneticVariation | UNIPROT | Complete exon-intron structure of the retina-specific ATP binding transporter gene (ABCR) allows the identification of novel mutations underlying Stargardt disease. | 9503029 | 1998 |
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|
A | 0.820 | GeneticVariation | CLINVAR | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | 9054934 | 1997 |
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|
A | 0.820 | CausalMutation | CLINVAR | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | 9054934 | 1997 |
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|
0.820 | GeneticVariation | UNIPROT | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | 9054934 | 1997 |