Source: ALL

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: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1846566
Disease: Degeneration of the lateral corticospinal tracts
Degeneration of the lateral corticospinal tracts 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0239067
Disease: Difficulty walking up stairs
Difficulty walking up stairs 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		disease 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C0424296
Disease: Social disinhibition
Social disinhibition 		disease 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4016882
Disease: SPASTIC PARAPLEGIA 4, MODIFIER OF
SPASTIC PARAPLEGIA 4, MODIFIER OF 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4553765
Disease: Memory Impairment, CTCAE 5.0
Memory Impairment, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		phenotype 0.100 None 0 0
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		phenotype 0.100 None 0 1
Entrez Id: 6683
Gene Symbol: SPAST
SPAST 		spastin 0.579 0.577 1.00
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		phenotype 0.100 None 0 0