Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826 2011
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826 2011
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation CLINVAR Dissection of epistasis in oligogenic Bardet-Biedl syndrome. 16327777 2006
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 CausalMutation CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002
Bardet-Biedl Syndrome
CUI: C0752166
Disease: Bardet-Biedl Syndrome
0.700 GeneticVariation 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)
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
0.700 CausalMutation CLINVAR