Gene: MKS1 ×
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