Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
|
26032230 |
2015 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
|
28493438 |
2017 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
|
20045102 |
2010 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
|
22009580 |
2012 |
Charcot-Marie-Tooth Disease, Axonal, Type 2n
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
|
22206013 |
2011 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.
|
25817015 |
2015 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
|
28493438 |
2017 |
Epileptic encephalopathy
|
0.120 |
Biomarker
|
disease |
HPO |
|
|
|
Ataxia
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Microcephaly
|
0.110 |
Biomarker
|
disease |
HPO |
|
|
|
Muscle Spasticity
|
0.110 |
Biomarker
|
phenotype |
HPO |
|
|
|
Peripheral Nervous System Diseases
|
0.110 |
Biomarker
|
group |
HPO |
|
|
|
Autistic Disorder
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Blepharoptosis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Blepharospasm
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Chorea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dyskinetic syndrome
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Fetal Growth Retardation
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Gastroesophageal reflux disease
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|