RARS1, arginyl-tRNA synthetase 1, 5917

N. diseases: 94; N. variants: 9
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.
CUI: C4015323
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 9
LEUKODYSTROPHY, HYPOMYELINATING, 9
disease Disease or Syndrome 1 8 0.700 strong 1.000 3 8 2014 2017
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.410 None 1.000 2 2014 2020
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 29 6 0.400 None 1.000 1 2014 2014
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.400 None 1.000 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.400 None 1.000 1 2014 2014
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.400 None 1.000 1 2014 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 None 1.000 1 2014 2014
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.310 None 1.000 2 2014 2020
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.300 None 1.000 1 2014 2014
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.300 None 1.000 1 2014 2014
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.300 None 1.000 1 2014 2014
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.120 None 1.000 2 2018 2020
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.110 None 1.000 1 2020 2020
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 1.000 2 1 2014 2017
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 43 5 0.100 None 0
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign
phenotype Sign or Symptom 116 7 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate
phenotype Nutritional and Metabolic Diseases Finding 169 2 0.100 None 0
CUI: C0234376
Disease: Action Tremor
Action Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.100 None 0
CUI: C1845245
Disease: Lower limb hypertonia
Lower limb hypertonia
phenotype Finding 21 5 0.100 None 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation
phenotype Finding 14 2 0.100 None 0
CUI: C0598275
Disease: Diffuse cerebral atrophy
Diffuse cerebral atrophy
phenotype Nervous System Diseases; Mental Disorders Finding 34 2 0.100 None 0
Hyperintensity of cerebral white matter on MRI
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 15 1 0.100 None 0
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 15 0.100 None 0
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0