Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR A Common Ancestral Asn242Ser Mutation in TMEM67 Identified in Multiple Iranian Families with Joubert Syndrome. 28719906

2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631

2017
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555

2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping. 26729329

2016
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation 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
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869

2015
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409

2013
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 21068128

2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095

2011
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). 19574260

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 20232449

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. 20607301

2010
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation 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
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. 19540516

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. 19058225

2009
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. 17397051

2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. 17377820

2007
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 CausalMutation CLINVAR Cerebellar vermis defect, oligophrenia, congenital ataxia, and hepatic fibrocirrhosis without coloboma and renal abnormalities: report of three cases. 12368986

2002
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.680 GeneticVariation CLINVAR