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 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
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation 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 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 		0.940 GeneticVariation disease UNIPROT Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2. 12567324 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease 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 		0.940 CausalMutation disease CLINVAR A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease UNIPROT Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970 2012
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease MGD Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. 15322545 2004
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR BBS mutations modify phenotypic expression of CEP290-related ciliopathies. 23943788 2014
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease UNIPROT 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 Biomarker disease 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 		0.940 CausalMutation disease 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 		0.940 GeneticVariation disease UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Evaluation of visual function and needs in adult patients with bardet-biedl syndrome. 25170860 2014
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: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease GENOMICS_ENGLAND 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 GeneticVariation disease CLINVAR Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. 12677556 2003
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 CausalMutation disease CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011