×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
BEFREE
Transmembrane protein 67 (TMEM67 ) is mutated in Meckel Gruber Syndrome type 3 (MKS3 ) resulting in a pleiotropic phenotype with hydrocephalus and renal cystic disease in both humans and rodent models.
30705305
2019
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
BEFREE
Although mutations in TMEM67 (transmembrane protein 67 )/MKS3 (Meckel-Gruber syndrome, type 3 ) were reported to cause COACH syndrome, this causality has not verified by functional studies.
28860541
2017
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
BEFREE
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3 ): a family from China.
26191240
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
GENOMICS_ENGLAND
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3 ): a family from China.
26191240
2015
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
BEFREE
In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3 , which provided a ground for further PGD procedure.
24039893
2013
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
UNIPROT
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
20232449
2010
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
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
0.950
Biomarker
disease
GENOMICS_ENGLAND
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
19508969
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
GENOMICS_ENGLAND
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
0.950
GeneticVariation
disease
BEFREE
Meckel-Gruber syndrome type 3 (MKS3 ; OMIM 607361) is a severe autosomal recessive disorder characterized by bilateral polycystic kidney disease.
19211713
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
UNIPROT
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
19466712
2009
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
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
0.950
GeneticVariation
disease
UNIPROT
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
17185389
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
CausalMutation
disease
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
0.950
GeneticVariation
disease
UNIPROT
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
17377820
2007
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
GENOMICS_ENGLAND
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
UNIPROT
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
RGD
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
16415887
2006
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
GENOMICS_ENGLAND
[Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)].
613550
1977
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
GeneticVariation
disease
CLINVAR
×
Entrez Id:
91147
Gene Symbol:
TMEM67
TMEM67
0.950
Biomarker
disease
CTD_human
×
Entrez Id:
5226
Gene Symbol:
PGD
PGD
0.010
GeneticVariation
disease
BEFREE
Here we report the development and the first clinical application of the PGD for this MKS3 family.
24039893
2013
×
Entrez Id:
54903
Gene Symbol:
MKS1
MKS1
0.010
Biomarker
disease
BEFREE
Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
19515853
2009