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 |
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 |
Familial aplasia of the vermis
|
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 |
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 |
Familial aplasia of the vermis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: genotyping a Northern European patient cohort.
|
25920555 |
2016 |
Familial aplasia of the vermis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.
|
26729329 |
2016 |
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 |
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 |
Familial aplasia of the vermis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
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 |
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 |
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 |
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 |
Familial aplasia of the vermis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.
|
21866095 |
2011 |
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 |
Familial aplasia of the vermis
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|
20232449 |
2010 |
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 |
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 |
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 |
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 |
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 |
Familial aplasia of the vermis
|
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 |
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 |
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 |
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 |