BBS10, Bardet-Biedl syndrome 10, 79738

N. diseases: 63; N. variants: 108
Disease: Bardet-Biedl Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 Biomarker disease BEFREE BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak. 28808579 2017
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation disease BEFREE A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity. 25439097 2014
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 21157496 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10. 17106446 2007
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Bardet Biedl syndrome in South Africa: A single founder mutation. 27245532 2016
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Bardet-Biedl Syndrome. 27385962 2016
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 30614526 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 Biomarker disease BEFREE BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients. 28143435 2017
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. 16582908 2006
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation disease CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation disease BEFREE Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested. 17980398 2008
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome. 20498079 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627 2012
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 Biomarker disease BEFREE Given the fact that mutations in BBS genes have already been found in Meckel-like fetuses, and in light of the major contribution of BBS10 to BBS, the BBS10 gene was sequenced in 20 fetal cases and a child diagnosed antenatally presenting with characteristic renal anomalies and polydactyly, but without biliary dysgenesis. 20805367 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation disease BEFREE Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.Resource table. 30312873 2018
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. 20177705 2010
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation disease BEFREE Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS. 31639430 2020
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939 2012
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 21044901 2011
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation disease CLINVAR Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. 21052717 2011