|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
TSEN54 Gene-Related Pontocerebellar Hypoplasia Type 2 Could Mimic Dyskinetic Cerebral Palsy with Severe Psychomotor Retardation.
|
29410950 |
2018 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Intractable epileptic spasms in a patient with Pontocerebellar hypoplasia: Severe phenotype of type 2 or another subtype?
|
27570394 |
2016 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Natural course of pontocerebellar hypoplasia type 2A.
|
24886362 |
2014 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
|
23307886 |
2014 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
|
23307886 |
2014 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.
|
23177318 |
2013 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
|
21368912 |
2011 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
TSEN54 mutations cause pontocerebellar hypoplasia type 5.
|
21368912 |
2011 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
|
20952379 |
2011 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
We confirm that the common p.A307S mutation in TSEN54 is responsible for most of the patients with a PCH2 phenotype.
|
20956791 |
2010 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
|
20803644 |
2010 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
|
18711368 |
2008 |
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
283989 |
| Gene Symbol: |
TSEN54 |
TSEN54
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
100129480 |
| Gene Symbol: |
MKRN2OS |
MKRN2OS
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
80746 |
| Gene Symbol: |
TSEN2 |
TSEN2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
79042 |
| Gene Symbol: |
TSEN34 |
TSEN34
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|