Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54903
Gene Symbol: MKS1
MKS1
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.740 GeneticVariation CLINVAR

Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
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 CausalMutation CLINVAR 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776

2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. 27788217

2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Bardet-Biedl Syndrome. 27385962

2016
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: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 GeneticVariation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971

2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome. 25982971

2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies. 23591405

2014
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. 25366773

2014
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR In search of triallelism in Bardet-Biedl syndrome. 22353939

2012
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Genotype-phenotype correlations in Bardet-Biedl syndrome. 22410627

2012
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance. 21209035

2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation 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
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome. 21157496

2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation CLINVAR Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes. 21044901

2011
Entrez Id: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 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: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 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: 79738
Gene Symbol: BBS10
BBS10
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		0.700 CausalMutation 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 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 GeneticVariation CLINVAR BBS10 mutations are common in 'Meckel'-type cystic kidneys. 20805367

2010