Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526

2019
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Diagnostic exome sequencing in 266 Dutch patients with visual impairment. 28224992

2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel. 27032803

2016
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 23432027

2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. 23432027

2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079

2010
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705

2010
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands. 18669544

2009
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation. 18766993

2008
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255

2008
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. 17980398

2008