| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
G | 0.720 | CausalMutation | CLINVAR | Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. | 25082885 | 2014 |
|||
|
G | 0.720 | CausalMutation | CLINVAR | Stargardt disease: towards developing a model to predict phenotype. | 23695285 | 2013 |
|||
|
0.720 | GeneticVariation | BEFREE | In family A, 2 sisters were diagnosed with Stargardt's disease (STGD); the eldest sister was compound heterozygous for the mild 2588G-->C and the severe 768G-->T mutation. | 15019334 | 2004 |
||||
|
G | 0.720 | CausalMutation | CLINVAR | Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. | 11919200 | 2002 |
|||
|
G | 0.720 | CausalMutation | CLINVAR | Biochemical defects in ABCR protein variants associated with human retinopathies. | 11017087 | 2000 |
|||
|
G | 0.720 | CausalMutation | CLINVAR | A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. | 10612508 | 1999 |
|||
|
0.720 | GeneticVariation | BEFREE | 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 |
||||
|
G | 0.720 | CausalMutation | CLINVAR | 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 |
|||
|
G | 0.720 | CausalMutation | CLINVAR | A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. | 9054934 | 1997 |