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: C0023520
Disease: Leukodystrophy
Leukodystrophy 		disease 0.090 None 1.000 9 1 2014 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C3279793
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 		disease 0.710 strong 1.000 8 8 2011 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.080 None 1.000 8 2 2014 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		disease 0.040 None 1.000 4 0 2014 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease 0.100 None 1.000 4 2 2011 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 4 2 2011 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.030 None 1.000 3 2 2014 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1854776
Disease: Infantile cardiomyopathy
Infantile cardiomyopathy 		disease 0.030 None 0.667 3 1 2011 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY 		disease 0.320 None 1.000 3 0 2014 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.130 None 1.000 3 0 2006 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		phenotype 0.030 None 1.000 3 0 2006 2020
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.020 None 0.500 2 1 2010 2012
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.020 None 1.000 2 0 2015 2017
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		disease 0.020 None 1.000 2 0 2017 2019
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C3711381
Disease: Hereditary Diffuse Leukoencephalopathy with Spheroids
Hereditary Diffuse Leukoencephalopathy with Spheroids 		disease 0.310 None 1.000 2 0 2016 2018
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C4014588
Disease: LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE 		disease 0.700 strong 1.000 2 4 2014 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.010 None 1.000 1 0 2014 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0162666
Disease: Mitochondrial Encephalomyopathies
Mitochondrial Encephalomyopathies 		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: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0949857
Disease: Mitochondrial Respiratory Chain Deficiencies
Mitochondrial Respiratory Chain Deficiencies 		disease 0.010 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: C0268233
Disease: GALACTOSIALIDOSIS
GALACTOSIALIDOSIS 		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: C0740279
Disease: Cerebellar atrophy
Cerebellar 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: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		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: C0338656
Disease: Impaired cognition
Impaired cognition 		disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		alanyl-tRNA synthetase 2, mitochondrial 0.644 0.500 5.0E-17
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease 0.110 None 1.000 1 2 2018 2018