Gene: BBS10 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Bardet-Biedl syndrome. 22713813 2013
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939 2012
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes. 21642631 2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035 2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. 21344540 2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. 20876674 2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes. 20120035 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly. 20080638 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group 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: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group 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 		0.100 CausalMutation group CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism. 16823392 2006
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci. 11179009 2001
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. 11567139 2001
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.100 CausalMutation group CLINVAR New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. 10874630 1999