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: 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: 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: 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: C0423224
Disease: Sunken eyes
Sunken eyes 		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: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		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: C0349588
Disease: Short stature
Short stature 		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: C0311394
Disease: Difficulty walking
Difficulty walking 		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: C0239676
Disease: High forehead
High forehead 		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: C0239234
Disease: Low set ears
Low set ears 		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: 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: 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: C4025846
Disease: Abnormality of vision
Abnormality of vision 		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: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		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: 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: C2919142
Disease: Short Stature, CTCAE
Short Stature, 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: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		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: C1866195
Disease: Downturned corners of mouth
Downturned corners of mouth 		phenotype 0.100 None 0 0