DisGeNET - a database of gene-disease associations

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Disease: BARDET-BIEDL SYNDROME 10 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

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:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.

27959697

2017

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

27659767

2017

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Bardet-Biedl Syndrome.

27385962

2016

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

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:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

27032803

2016

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

25988237

2016

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

GeneticVariation

CLINVAR

Characterizing the morbid genome of ciliopathies.

27894351

2016

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

24400638

2015

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

Biomarker

MGD

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice.

26273430

2015

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

26518167

2015

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

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:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

26003401

2015

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.

25170860

2014

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

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:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

CausalMutation

CLINVAR

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

24746959

2014

Entrez Id:	79738
Gene Symbol:	BBS10

BBS10

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

BARDET-BIEDL SYNDROME 10

0.900

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:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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

CUI:	C1859568
Disease:	BARDET-BIEDL SYNDROME 10

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