Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 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: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. 28800606

2017
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome. 25988237

2016
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. 25999675

2015
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. 25541840

2015
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing. 25412400

2015
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: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing. 24608809

2014
Entrez Id: 583
Gene Symbol: BBS2
BBS2
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: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Carrier frequency of two BBS2 mutations in the Ashkenazi population. 23829372

2014
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 21157496

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 GeneticVariation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540

2011
Entrez Id: 583
Gene Symbol: BBS2
BBS2
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: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation 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: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. 19402160

2009
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. 16877420

2006
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. 16909204

2006
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. 12837689

2003
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). 11285252

2001
Entrez Id: 583
Gene Symbol: BBS2
BBS2
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.400 CausalMutation CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139

2001