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: 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: C4225343
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
MENTAL RETARDATION, AUTOSOMAL DOMINANT 38 		disease 0.600 None 1.000 0 4 2015 2015
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: C0040822
Disease: Tremor
Tremor 		phenotype 0.130 None 0.667 0 0 2018 2018
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: C0234985
Disease: Mental deterioration
Mental deterioration 		phenotype 0.120 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: 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: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.120 None 1.000 0 0 2019 2020
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: 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: 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: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 0 2016 2016
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0085584
Disease: Encephalopathies
Encephalopathies 		group 0.100 None 0 0