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: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1857704
Disease: Abnormal myelination
Abnormal myelination 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1842581
Disease: Abnormal corpus callosum morphology
Abnormal corpus callosum morphology 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		phenotype 0.130 None 1.000 0 0 2017 2019
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0020608
Disease: Hypodontia
Hypodontia 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.110 None 1.000 0 0 2020 2020
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.130 None 1.000 0 0 2016 2019
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.100 None 0 0