Source: INFERRED

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: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		disease 0.710 None 1.000 2 3 2010 2019
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		disease 0.700 None 1.000 0 2 2015 2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		disease 0.160 None 1.000 0 2 2010 2018
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.120 None 1.000 0 0 2015 2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.110 None 1.000 3 2 2010 2018
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.110 None 1.000 0 0 2006 2006
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.110 None 1.000 0 0 2012 2012
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.110 None 1.000 0 0 2017 2017
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype 0.100 None 1.000 1 1 2019 2019
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1838391
Disease: Limb hypertonia
Limb hypertonia 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1836038
Disease: Poor head control
Poor head control 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy 		disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		alanyl-tRNA synthetase 1 0.647 0.462 1.8E-08
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0