Source: HPO

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: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1836479
Disease: Saccadic smooth pursuit
Saccadic smooth pursuit 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1271100
Disease: Lower limb spasticity
Lower limb spasticity 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0575059
Disease: Spastic tetraparesis
Spastic tetraparesis 		disease 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C0542223
Disease: Loss of speech
Loss of speech 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1853398
Disease: Spasticity of pharyngeal muscles
Spasticity of pharyngeal muscles 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1853404
Disease: Spasticity of facial muscles
Spasticity of facial muscles 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		disease 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
Abnormal upper motor neuron morphology 		disease 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4025720
Disease: Pseudobulbar behavioral symptoms
Pseudobulbar behavioral symptoms 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4025704
Disease: Abnormality of the corticospinal tract
Abnormality of the corticospinal tract 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C4025614
Disease: EMG: chronic denervation signs
EMG: chronic denervation signs 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1865412
Disease: Abnormal lower motor neuron morphology
Abnormal lower motor neuron morphology 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 57679
Gene Symbol: ALS2
ALS2 		alsin Rho guanine nucleotide exchange factor ALS2 0.647 0.423 8.7E-12
CUI: C1853406
Disease: Difficulty in tongue movements
Difficulty in tongue movements 		phenotype 0.100 None 0 0