Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Bardet-Biedl Syndrome
|
0.700 | CausalMutation | CLINVAR | Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. | 25982971 | 2015 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome. | 22713813 | 2013 | |||||
Overgrowth
|
0.700 | CausalMutation | CLINVAR | Bardet-Biedl syndrome. | 22713813 | 2013 | |||||
Bardet-Biedl Syndrome
|
0.700 | CausalMutation | CLINVAR | Genotype-phenotype correlations in Bardet-Biedl syndrome. | 22410627 | 2012 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | In search of triallelism in Bardet-Biedl syndrome. | 22353939 | 2012 | |||||
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. | 21642631 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. | 21209035 | 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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. | 21344540 | 2011 | |||||
Muscle hypotonia
|
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 | Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. | 21209035 | 2011 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. | 20080638 | 2010 | |||||
Muscle hypotonia
|
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 | BBS10 mutations are common in 'Meckel'-type cystic kidneys. | 20805367 | 2010 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
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 | 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 | |||||
Bardet-Biedl Syndrome
|
0.700 | CausalMutation | CLINVAR | Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. | 20472660 | 2010 |