| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | BBS mutations modify phenotypic expression of CEP290-related ciliopathies. | 23943788 | 2014 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Choroidal neovascularization in Bardet-Biedl syndrome. | 23565731 | 2013 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. | 22940089 | 2012 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. | 22581970 | 2012 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. | 23143442 | 2012 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. | 21642631 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. | 21052717 | 2011 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. | 20498079 | 2010 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. | 18032602 | 2007 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | GeneticVariation | BEFREE | We screened these six Newfoundland families for mutations in BBS1 and found that affected individuals in five of them were homozygous for the same M390R mutation. | 15517396 | 2005 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | 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)
|
0.810 | CausalMutation | CLINVAR | Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). | 12524598 | 2003 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | CausalMutation | CLINVAR | Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. | 12118255 | 2002 | |||||
Bardet-Biedl syndrome 1 (disorder)
|
0.810 | GeneticVariation | UNIPROT |