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 Biomarker disease GENOMICS_ENGLAND 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 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 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 Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
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 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 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: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). 12524598 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 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: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 GeneticVariation disease CLINVAR Further support for digenic inheritance in Bardet-Biedl syndrome. 12920096 2003
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 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: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 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 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: 84100
Gene Symbol: ARL6
ARL6 		0.300 Biomarker disease GENOMICS_ENGLAND Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3). 15258860 2004
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 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: 254359
Gene Symbol: ZDHHC24
ZDHHC24 		0.100 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 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: 54903
Gene Symbol: MKS1
MKS1 		0.300 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		0.100 GeneticVariation disease CLINVAR The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
Entrez Id: 582
Gene Symbol: BBS1
BBS1 		0.940 Biomarker disease MGD A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. 18032602 2007