Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. 28143435

2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767

2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. 26518167

2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Nonsyndromic retinitis pigmentosa is highly prevalent in the Jerusalem region with a high frequency of founder mutations. 26261414

2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker MGD Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet-Biedl syndrome. 26216965

2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788

2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860

2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731

2013
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. 23143442

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. 22773737

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. 22940089

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 Biomarker MGD Abnormal development of NG2+PDGFR-α+ neural progenitor cells leads to neonatal hydrocephalus in a ciliopathy mouse model. 23160237

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation. 21520335

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia. 21517826

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation UNIPROT BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation UNIPROT Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		0.940 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011