Familial aplasia of the vermis
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome.
|
28631893 |
2017 |
Familial aplasia of the vermis
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report the clinical and rehabilitative follow up of M, a female child carrying a compound heterozygous pathogenic mutations in the TCTN1 gene and affected by Joubert Syndrome (JS).
|
26489806 |
2015 |
Familial aplasia of the vermis
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease.
|
22693042 |
2012 |
Familial aplasia of the vermis
|
0.610 |
GermlineCausalMutation
|
disease |
ORPHANET |
Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.
|
21725307 |
2011 |
Familial aplasia of the vermis
|
0.610 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.
|
21725307 |
2011 |
Familial aplasia of the vermis
|
0.610 |
GeneticVariation
|
disease |
BEFREE |
Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.
|
21725307 |
2011 |
Familial aplasia of the vermis
|
0.610 |
Biomarker
|
disease |
CTD_human |
Consistent with a shared function for complex components, we identified a mutation in TCTN1 that causes Joubert syndrome.
|
21725307 |
2011 |
Joubert syndrome 1
|
0.500 |
Biomarker
|
disease |
CTD_human |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
Joubert syndrome 1
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
JOUBERT SYNDROME 13
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
JOUBERT SYNDROME 13
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
GENOMICS_ENGLAND |
Molecular characterization of Joubert syndrome in Saudi Arabia.
|
22693042 |
2012 |
JOUBERT SYNDROME 13
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
21725307 |
2011 |
JOUBERT SYNDROME 13
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
JOUBERT SYNDROME 13
|
0.400 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Intellectual Disability
|
0.400 |
Biomarker
|
group |
HPO |
|
|
|
Hepatitis, Toxic
|
0.300 |
Biomarker
|
disease |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Drug-Induced Liver Disease
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Hepatitis, Drug-Induced
|
0.300 |
Biomarker
|
disease |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Drug-Induced Acute Liver Injury
|
0.300 |
Biomarker
|
disease |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Chemical and Drug Induced Liver Injury
|
0.300 |
Biomarker
|
disease |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Chemically-Induced Liver Toxicity
|
0.300 |
Biomarker
|
disease |
CTD_human |
Blood gene expression signatures predict exposure levels.
|
17984051 |
2007 |
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
Ciliopathies
|
0.300 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|