MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Familial aplasia of the vermis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 GeneticVariation disease CLINVAR MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum. 27377014 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		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
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 CausalMutation disease CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.660 Biomarker disease GENOMICS_ENGLAND MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006