TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
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
0.630 GeneticVariation disease BEFREE Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. 30705305 2019
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 GeneticVariation disease CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329 2016
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329 2016
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 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
0.630 Biomarker disease BEFREE The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 26035863 2015
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. 26035863 2015
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 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
0.630 CausalMutation disease CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516 2009
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 CausalMutation disease CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 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
0.630 CausalMutation disease CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225 2009
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 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
0.630 GermlineCausalMutation disease ORPHANET Meckel syndrome: genetics, perinatal findings, and differential diagnosis. 17389183 2007
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 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
0.630 GeneticVariation disease BEFREE The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
0.630 Biomarker disease RGD The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006