Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0497327
Disease: Dementia
Dementia 		disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C4540031
Disease: Combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency 		phenotype 0.300 None 1.000 1 0 2011 2011
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease 0.010 None 1.000 1 0 2012 2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0027121
Disease: Myositis
Myositis 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1840372
Disease: Mixed respiratory and metabolic acidosis
Mixed respiratory and metabolic acidosis 		phenotype 0.100 None 0 2
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1858430
Disease: Death in infancy
Death in infancy 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0003635
Disease: Apraxias
Apraxias 		group 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		disease 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease 0.100 None 0 0
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.100 None 0 0