Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome. | 22713813 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | In search of triallelism in Bardet-Biedl syndrome. | 22353939 | 2012 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. | 20876674 | 2011 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. | 21642631 | 2011 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. | 21344540 | 2011 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. | 21209035 | 2011 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | BBS10 mutations are common in 'Meckel'-type cystic kidneys. | 20805367 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. | 20498079 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. | 20177705 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. | 20120035 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. | 20080638 | 2010 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. | 17980398 | 2008 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. | 16823392 | 2006 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. | 16582908 | 2006 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. | 11179009 | 2001 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. | 11567139 | 2001 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. | 10874630 | 1999 |