×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
GeneticVariation
disease
BEFREE
These correlations were also present in the TMEM67 -related JS sub-cohort (n = 14).
28497568
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
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
0.680
CausalMutation
disease
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
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Joubert syndrome: genotyping a Northern European patient cohort.
25920555
2016
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
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
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
26092869
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
CLINVAR
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
21866095
2011
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
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
0.680
CausalMutation
disease
CLINVAR
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
20232449
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
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
0.680
Biomarker
disease
GENOMICS_ENGLAND
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
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
CausalMutation
disease
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
0.680
CausalMutation
disease
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
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
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.680
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
18327255
2008
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
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