Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. | 26261414 | 2015 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. | 22773737 | 2012 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. | 21344540 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. | 21520335 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. | 21344540 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. | 21052717 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. | 20177705 | 2010 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | CLINVAR | Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. | 20120035 | 2010 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. | 15770229 | 2005 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. | 12567324 | 2003 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. | 12677556 | 2003 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Further support for digenic inheritance in Bardet-Biedl syndrome. | 12920096 | 2003 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). | 12524598 | 2003 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.800 | GeneticVariation | UNIPROT | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. | 12118255 | 2002 | |||||
Retinitis Pigmentosa
|
0.700 | GeneticVariation | CLINVAR | Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. | 15770229 | 2005 | |||||
Retinitis Pigmentosa
|
0.700 | CausalMutation | CLINVAR |