YARS2, tyrosyl-tRNA synthetase 2, 51067

N. diseases: 55; N. variants: 19
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2
disease Disease or Syndrome 1 9 0.620 None 1.000 8 7 2010 2018
MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 5 0.560 None 1.000 7 2 2010 2017
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group Nutritional and Metabolic Diseases Disease or Syndrome 284 84 0.130 None 1.000 4 2 2014 2017
CUI: C0026848
Disease: Myopathy
Myopathy
group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.110 None 1.000 1 2013 2013
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 121 19 0.110 None 1.000 1 2017 2017
ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION
disease Disease or Syndrome 3 8 0.100 None 1.000 3 7 2007 2016
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges
phenotype Finding 52 9 0.100 None 1.000 2 1 2016 2016
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 105 8 0.100 None 1.000 2 1 2016 2016
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system
disease Anatomical Abnormality 7 1 0.100 None 1.000 2 1 2016 2016
Generalized tonic-clonic seizures with focal onset
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 23 1 0.100 None 1.000 2 1 2016 2016
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 1.000 2 1 2016 2016
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.100 None 1.000 2 1 2016 2016
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.100 None 1.000 2 1 2016 2016
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 112 10 0.100 None 1.000 2 1 2016 2016
CUI: C1853139
Disease: OPTIC ATROPHY 5 (disorder)
OPTIC ATROPHY 5 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 4 0.100 None 1.000 1 2 2016 2016
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy
disease Disease or Syndrome 21 2 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal
phenotype Finding 130 12 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
Respiratory insufficiency due to muscle weakness
phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype Finding 14 24 0.100 None 0 1
CUI: C1865014
Disease: Long philtrum
Long philtrum
phenotype Finding 282 16 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C1389113
Disease: Generalized amyotrophy
Generalized amyotrophy
disease Disease or Syndrome 56 6 0.100 None 0