Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Muscle hypotonia
|
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 | Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. | 17980398 | 2008 | |||||
Bardet-Biedl Syndrome
|
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 | Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. | 16823392 | 2006 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. | 16582908 | 2006 | |||||
Muscle hypotonia
|
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 | 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 | |||||
Muscle hypotonia
|
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 | |||||
Muscle hypotonia
|
0.700 | CausalMutation | CLINVAR | New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. | 10874630 | 1999 | |||||
Ulnar polydactyly of fingers
|
0.700 | CausalMutation | CLINVAR | ||||||||
Poor school performance
|
0.700 | CausalMutation | CLINVAR | ||||||||
Polydactyly of toes
|
0.700 | CausalMutation | CLINVAR | ||||||||
Retinal Dystrophies
|
0.700 | CausalMutation | CLINVAR | ||||||||
Macular degeneration
|
0.700 | CausalMutation | CLINVAR | ||||||||
Hearing Loss, High-Frequency
|
0.700 | CausalMutation | CLINVAR | ||||||||
BARDET-BIEDL SYNDROME 10
|
0.800 | GeneticVariation | UNIPROT | A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. | 28808579 | 2017 | |||||
BARDET-BIEDL SYNDROME 10
|
0.800 | CausalMutation | CLINVAR | Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. | 25982971 | 2015 | |||||
BARDET-BIEDL SYNDROME 10
|
0.800 | CausalMutation | CLINVAR | Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. | 24746959 | 2014 | |||||
BARDET-BIEDL SYNDROME 10
|
0.800 | GeneticVariation | UNIPROT | Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. | 23219996 | 2013 | |||||
BARDET-BIEDL SYNDROME 10
|
0.800 | CausalMutation | CLINVAR | Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. | 21044901 | 2011 | |||||
BARDET-BIEDL SYNDROME 10
|
0.800 | CausalMutation | CLINVAR | Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. | 20876674 | 2011 |