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 		0.660 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GeneticVariation disease BEFREE We review the MKS1-variants in all of the eleven JS patients reported to date and compare these patients to our case. 27377014 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 Biomarker disease BEFREE Fibroblasts from individuals with MKS1-related JS make normal or fewer cilia than control fibroblasts, their cilia are more variable in length than controls, and show decreased ciliary ARL13B and INPP5E. 26490104 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GeneticVariation disease CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 Biomarker disease BEFREE Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies. 27570071 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GermlineCausalMutation disease ORPHANET Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GeneticVariation disease BEFREE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. 24886560 2014
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. 17935508 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 Biomarker disease BEFREE After mutation analysis of MKS1 and MKS3 in a series of patients with JS (n=22), we identified MKS3 mutations in four patients with JS, thus defining MKS3 as the sixth JS locus (JBTS6). 17160906 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 Biomarker disease BEFREE Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder. 17558409 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 GeneticVariation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
Entrez Id: 54903
Gene Symbol: MKS1
MKS1 		0.660 CausalMutation disease CLINVAR 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 		0.660 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006