MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
Disease: Meckel-Gruber syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR Neuropsychological phenotypes of 76 individuals with Joubert syndrome evaluated at a single center. 28497568 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR MKS1 regulates ciliary INPP5E levels in Joubert syndrome. 26490104 2016
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease CLINVAR Identification of deleterious synonymous variants in human genomes. 23736532 2013
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GermlineCausalMutation disease ORPHANET Molecular genetics and pathogenic mechanisms for the severe ciliopathies: insights into neurodevelopment and pathogenesis of neural tube defects. 21110233 2011
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GermlineCausalMutation disease ORPHANET Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups? 19466712 2009
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GermlineCausalMutation disease ORPHANET Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 17389183 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 Biomarker disease BEFREE Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease BEFREE 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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome. 17437276 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 GeneticVariation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 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: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 Biomarker disease BEFREE The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. 17185389 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome 		0.430 CausalMutation disease CLINVAR MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. 16415886 2006