Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.430 | GeneticVariation | disease | BEFREE | Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. | 31144483 | 2019 | ||||
|
0.430 | GeneticVariation | disease | BEFREE | Previously, we identified a family affected by retinitis pigmentosa caused by the homozygous BBS1 splice donor site mutation c.479G > A. | 31541798 | 2019 | ||||
|
0.430 | CausalMutation | disease | CLINVAR | Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. | 30718709 | 2019 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | The 14 patients with 2 BBS1 variants showed the entire clinical spectrum, from nonsyndromic RP to full-blown BBS. | 23143442 | 2012 | ||||
|
0.430 | GeneticVariation | disease | BEFREE | BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. | 23143442 | 2012 | ||||
|
0.430 | GeneticVariation | disease | CLINVAR | Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. | 15770229 | 2005 | ||||
|
0.430 | Biomarker | disease | GENOMICS_ENGLAND | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. | 12118255 | 2002 | ||||
|
0.430 | GeneticVariation | disease | CLINVAR | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. | 12118255 | 2002 | ||||
|
0.430 | Biomarker | disease | HPO |