Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 Biomarker disease BEFREE In collaboration with the French National Center for Sequencing (CNS, Evry), all coding exons and flanking introns were sequenced for 27 ciliopathy genes (BBS1-12, MGC1203, TTC21b, AHI1, NPHP2-8 (NPHP6=BBS14), MKS1(BBS13), MKS3, C2ORF86, SDCCAG8, ALMS1) in 96 patients referred with a clinical diagnosis of BBS. 22004009 2012
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 Biomarker disease BEFREE To date, mutations in 12 BBS genes as well as in MKS1 and CEP290 have been identified as causing BBS. 19797195 2010
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 GeneticVariation disease BEFREE Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255 2008
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 Biomarker disease CTD_human Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255 2008
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 GermlineCausalMutation disease ORPHANET Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255 2008
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 GeneticVariation disease LHGDN Five of six families with both MKS1 and BBS mutations manifested seizures, a feature that is not a typical component of either syndrome. 18327255 2008
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 GeneticVariation disease BEFREE To address this heterogenity, we sequenced the causative genes in MKS and BBS but no mutations in these five genes were identified. 15266619 2004
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.740 GeneticVariation disease CLINVAR
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		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
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		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
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		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
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 Biomarker disease BEFREE BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients. 28143435 2017
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease 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 		0.700 CausalMutation disease CLINVAR Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. 27486776 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease CLINVAR Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis. 27788217 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease CLINVAR Bardet-Biedl Syndrome. 27385962 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease CLINVAR Bardet Biedl syndrome in South Africa: A single founder mutation. 27245532 2016
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 GeneticVariation disease 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 		0.700 CausalMutation disease 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 		0.700 Biomarker disease MGD To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide. 26273430 2015
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		0.700 CausalMutation disease 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 		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
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		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