COACH syndrome
|
0.740 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome.
|
28860541 |
2017 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
To the best of our knowledge, this is the first report verifying the causality between COACH syndrome and TMEM67, which will further our understanding of molecular pathogenesis of the syndrome.
|
28860541 |
2017 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China.
|
26191240 |
2015 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations.
|
20607301 |
2010 |
COACH syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Joubert Syndrome and related disorders.
|
20615230 |
2010 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease.
|
19574260 |
2010 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease.
|
19574260 |
2010 |
COACH syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
19/23 families (83%) with COACH syndrome carried MKS3 mutations, compared to 2/209 (1%) with JSRD but no liver disease.
|
19574260 |
2010 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome.
|
19876931 |
2009 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
|
19058225 |
2009 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
|
19058225 |
2009 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
|
19058225 |
2009 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
|
19058225 |
2009 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
|
18327255 |
2008 |
COACH syndrome
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
|
17160906 |
2007 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
COACH syndrome
|
0.740 |
GeneticVariation
|
disease |
CLINVAR |
The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
16415887 |
2006 |
COACH syndrome
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
[Investigations on the stability of droplets from medical jet and ultrasound aerosol atomizers (author's transl)].
|
613550 |
1977 |
COACH syndrome
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
COACH syndrome
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|