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: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 10 3 2009 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C4225337
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33 		disease 0.700 strong 1.000 7 9 1988 2018
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype 0.100 None 1.000 3 2 2012 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 1 1 2016 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0080274
Disease: Urinary Retention
Urinary Retention 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.110 None 1.000 1 1 2016 2017
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0005697
Disease: Neurogenic Urinary Bladder
Neurogenic Urinary Bladder 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C1836830
Disease: Developmental regression
Developmental regression 		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: C1838391
Disease: Limb hypertonia
Limb hypertonia 		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: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		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: C1836038
Disease: Poor head control
Poor head control 		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: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity 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: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		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: C0085584
Disease: Encephalopathies
Encephalopathies 		group 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: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		disease 0.120 None 1.000 0 0 2016 2020
Entrez Id: 1917
Gene Symbol: EEF1A2
EEF1A2 		eukaryotic translation elongation factor 1 alpha 2 0.554 0.808 1.00
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		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: C0424688
Disease: Small head
Small head 		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: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		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: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		disease 0.600 None 1.000 0 4 2015 2015