TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
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 		0.680 GeneticVariation disease BEFREE These correlations were also present in the TMEM67-related JS sub-cohort (n = 14). 28497568 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 GeneticVariation disease BEFREE TMEM67 mutation (MKS3) is a major cause of MKS and the related ciliopathy Joubert syndrome, although the complete etiology of the disease is not well understood. 23393159 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 GeneticVariation disease CLINVAR
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 GeneticVariation disease BEFREE Homozygosity mapping uncovered a shared ∼2.2-Mb run of homozygosity on chromosome 8q21.3-q22.1 encompassing the known JS-causing TMEM67 gene. 28719906 2017
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease GENOMICS_ENGLAND Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease BEFREE Loss of CEP290 function is associated with retinal dystrophy, while loss of TMEM67 function is associated with liver fibrosis and coloboma, but we observe no clear-cut distinction between JS subtypes. 26092869 2015
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 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 		0.680 Biomarker disease GENOMICS_ENGLAND Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. 18327255 2008
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease GENOMICS_ENGLAND The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. 16415887 2006
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease BEFREE Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 19508969 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease BEFREE Nephronophthisis (NPHP) is found in 17-27% of these patients, which was designated JS type B. Mutations in four separate genes (AHI1, NPHP1, CEP290/NPHP6, and MKS3) are linked to JS. 17960139 2007
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease GENOMICS_ENGLAND Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 19508969 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 Biomarker disease BEFREE In humans, mutations in TMEM67 (also known as MKS3) cause both MKS and JBTS, with TMEM67 encoding the orphan receptor meckelin (TMEM67) that localizes to the ciliary transition zone. 23283079 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 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 		0.680 CausalMutation disease CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301 2010
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 12368986 2002
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 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: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Mutations of MKS3/TMEM67, found recently in Meckel-Gruber syndrome (MKS) type 3 and Joubert syndrome (JBTS) type 6, are predominantly truncating mutations. 19508969 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516 2009
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation disease CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906 2017