SPAST, spastin, 6683

N. diseases: 138; N. variants: 113
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0495694
Disease: Dysarthria and anarthria
Dysarthria and anarthria 		phenotype Sign or Symptom 1 1 0.010 None 1.000 1 1 2019 2019
CUI: C4016882
Disease: SPASTIC PARAPLEGIA 4, MODIFIER OF
SPASTIC PARAPLEGIA 4, MODIFIER OF 		phenotype Finding 1 1 0.100 None 0 1
CUI: C1838192
Disease: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2009 2009
CUI: C1853247
Disease: SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT
SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 13 0.010 None 1.000 1 2015 2015
CUI: C1863704
Disease: Spastic paraplegia 8, autosomal dominant
Spastic paraplegia 8, autosomal dominant 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 12 0.010 None 1.000 1 2020 2020
CUI: C2931441
Disease: Hereditary spastic paralysis, infantile onset ascending
Hereditary spastic paralysis, infantile onset ascending 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 15 0.010 None 1.000 1 1 2019 2019
CUI: C1849128
Disease: Spastic paraplegia 15, autosomal recessive
Spastic paraplegia 15, autosomal recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 46 0.010 None 1.000 1 2006 2006
CUI: C2931355
Disease: Spastic paraplegia 3, autosomal dominant
Spastic paraplegia 3, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 18 0.010 None 1.000 1 2009 2009
CUI: C1334804
Disease: Motor Manifestations
Motor Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 5 0.010 None 1.000 1 2016 2016
CUI: C0431388
Disease: Microdysgenesis
Microdysgenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 6 0.010 None 1.000 1 2004 2004
CUI: C3711371
Disease: Spastic Paraplegia Type 4
Spastic Paraplegia Type 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.090 None 1.000 9 2011 2019
CUI: C4022739
Disease: Abnormal neuron morphology
Abnormal neuron morphology 		disease Anatomical Abnormality 8 3 0.010 None 1.000 1 2009 2009
CUI: C0393555
Disease: Pure hereditary spastic paraplegia
Pure hereditary spastic paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.030 None 1.000 3 2001 2016
CUI: C1854372
Disease: Impaired vibration sensation at ankles
Impaired vibration sensation at ankles 		phenotype Finding 9 0.100 None 0
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 101 1.000 None 1.000 85 101 1991 2019
CUI: C4025360
Disease: Functional motor deficit
Functional motor deficit 		phenotype Finding 10 1 0.100 None 0
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		phenotype Finding 11 1 0.100 None 0 1
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 12 3 0.010 None 1.000 1 2008 2008
CUI: C4268744
Disease: Atypical femoral fracture
Atypical femoral fracture 		phenotype Pathologic Function 12 23 0.100 None 1.000 1 1 2019 2019
CUI: C0443306
Disease: Spastic
Spastic 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Mental or Behavioral Dysfunction 13 0.010 None 1.000 1 2014 2014
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		phenotype Sign or Symptom 13 0.100 None 0
CUI: C1858712
Disease: Spastic paraplegia 10, autosomal dominant
Spastic paraplegia 10, autosomal dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 16 10 0.080 None 1.000 8 1996 2006
CUI: C2697766
Disease: Interleukin 18 Measurement
Interleukin 18 Measurement 		phenotype Laboratory Procedure 16 25 0.100 None 1.000 1 1 2017 2017
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C0154682
Disease: Lateral Sclerosis
Lateral Sclerosis 		disease Nervous System Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2005 2005