×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
16582908 2006
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
17106446 2007
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
20120035 2010
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
22958920 2012
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
16582908 2006
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
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: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
21044901 2011
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
21157496 2011
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
23219996 2013
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
24611592 2014
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
28808579 2017
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
21052717 2011
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Characterizing the morbid genome of ciliopathies.
27894351 2016
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
In search of triallelism in Bardet-Biedl syndrome.
22353939 2012
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.
24041679 2014
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
22773737 2012
×
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
UNIPROT
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
BARDET-BIEDL SYNDROME 10
0.900
GeneticVariation
CLINVAR
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
21209035 2011