Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. 20472660

2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography. 17980398

2008
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 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: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367

2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Bardet Biedl syndrome in South Africa: A single founder mutation. 27245532

2016
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 CausalMutation CLINVAR

Entrez Id: 54585
Gene Symbol: LZTFL1
LZTFL1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.640 CausalMutation CLINVAR

Entrez Id: 92482
Gene Symbol: BBIP1
BBIP1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.610 CausalMutation CLINVAR

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.500 GeneticVariation CLINVAR

Entrez Id: 84100
Gene Symbol: ARL6
ARL6
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.480 CausalMutation CLINVAR

Entrez Id: 11020
Gene Symbol: IFT27
IFT27
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.420 CausalMutation CLINVAR Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. 30761183

2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing. 25133751

2014
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 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 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
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 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 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 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 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
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: 585
Gene Symbol: BBS4
BBS4
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. 11381270

2001
Entrez Id: 582
Gene Symbol: BBS1
BBS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation 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
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