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 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 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 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 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 GeneticVariation disease 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 		0.940 GeneticVariation disease UNIPROT 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 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 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 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 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 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 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 GeneticVariation disease UNIPROT Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
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 GeneticVariation 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 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 GeneticVariation disease UNIPROT Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. 15770229 2005
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.400 GeneticVariation disease CLINVAR
Entrez Id: 8195
Gene Symbol: MKKS
MKKS 		0.400 GeneticVariation disease CLINVAR Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. 28761321 2017