Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
BEFREE |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |
Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
|
20232449 |
2010 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
|
20607301 |
2010 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?
|
19466712 |
2009 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
|
18327255 |
2008 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
|
17185389 |
2007 |
Meckel syndrome type 3
|
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 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
17377820 |
2007 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
UNIPROT |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
RGD |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)].
|
613550 |
1977 |
Meckel syndrome type 3
|
0.950 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Meckel syndrome type 3
|
0.950 |
Biomarker
|
disease |
CTD_human |
|
|
|