Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 AlteredExpression disease BEFREE Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration. 17065520 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease BEFREE Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1). 10564830 1999
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease BEFREE A linkage disequilibrium (LD) study involving six Newfoundland families predicted a critical interval for Bardet-Biedl syndrome 1 (BBS1) (Young et al. in Am J Hum Genet 65:1680-1687, 1999), but the subsequent identification of BBS1 revealed that it lies outside this region. 15517396 2005
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease BEFREE Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees. 10577921 1999
Entrez Id: 10938
Gene Symbol: EHD1
EHD1 		0.010 Biomarker disease BEFREE EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. 10564830 1999
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease 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 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease 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 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease 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 		0.940 GeneticVariation disease CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease CLINVAR Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping. 19797195 2010
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease 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 		0.940 CausalMutation disease CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome. 27659767 2017
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease CLINVAR Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. 12118255 2002
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Choroidal neovascularization in Bardet-Biedl syndrome. 23565731 2013