| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | Biomarker | group | BEFREE | We used the naturally occurring canine BEST1 model to examine factors that underlie formation of vitelliform lesions and addressed the susceptibility of the macula to its primary detachment in BEST1-linked maculopathies. | 29721958 | 2018 | ||||
|
0.090 | Biomarker | group | BEFREE | Both human and canine BEST1-linked maculopathies are characterized by abnormal accumulation of autofluorescent material within RPE cells and bilateral macular or multifocal lesions; however, the specific mechanism leading to the formation of these lesions remains unclear. | 28111324 | 2017 | ||||
|
0.090 | GeneticVariation | group | BEFREE | All individuals with Best1 gene mutations had signs of maculopathy. | 21809908 | 2012 | ||||
|
0.090 | Biomarker | group | BEFREE | Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2. | 22174098 | 2012 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Ten of these 11 patients (91%) with maculopathy had a mutation in the VMD2 gene, of whom 8 were clinically diagnosed as having Best disease and 2 were diagnosed as having possible Best maculopathy. | 13129869 | 2003 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. | 11713080 | 2001 | ||||
|
0.090 | Biomarker | group | BEFREE | The nucleotide diversity of the ABCA4 coding region, a collective measure of the number and prevalence of polymorphic sites in a region of DNA, was found to be 1.28, a value that is 9 to 400 times greater than that of two other macular disease genes that were examined in a similar fashion (VMD2 and EFEMP1). | 11328725 | 2001 | ||||
|
0.090 | GeneticVariation | group | BEFREE | VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. | 10737974 | 2000 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies. | 10453731 | 1999 |