KIF5A, kinesin family member 5A, 3798

N. diseases: 112; N. variants: 28
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: C4693609
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25 		phenotype Finding 1 8 0.600 None 1.000 3 8 2018 2018
CUI: C4310658
Disease: MYOCLONUS, INTRACTABLE, NEONATAL
MYOCLONUS, INTRACTABLE, NEONATAL 		disease Disease or Syndrome 1 2 0.600 strong 1.000 2 2 2017 2018
CUI: C4707173
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2012 2012
CUI: C4732774
Disease: Spastic paraparetic gait
Spastic paraparetic gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 1 0.100 None 0
CUI: C0520823
Disease: Patellar clonus
Patellar clonus 		phenotype Finding 6 0.100 None 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy 		phenotype Nervous System Diseases Finding 7 0.100 None 0
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 0.010 None 1.000 1 2004 2004
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus 		phenotype Finding 9 0.100 None 0
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy 		disease Disease or Syndrome 9 0.100 None 0
CUI: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder 		phenotype Finding 10 0.100 None 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		phenotype Finding 10 1 0.100 None 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness 		phenotype Sign or Symptom 13 0.100 None 0
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 14 1 0.100 None 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		phenotype Finding 14 2 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 0.760 strong 1.000 14 10 2002 2018
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: C2720436
Disease: Fibrosis of pleura
Fibrosis of pleura 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 19 0.010 None 1.000 1 2017 2017
CUI: C0264545
Disease: Thickening of pleura
Thickening of pleura 		disease Respiratory Tract Diseases Disease or Syndrome 25 0.010 None 1.000 1 2017 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 97 0.010 None 1.000 1 2008 2008
CUI: C0751602
Disease: Hereditary Autosomal Dominant Spastic Paraplegia
Hereditary Autosomal Dominant Spastic Paraplegia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 27 7 0.060 None 1.000 6 2002 2018
CUI: C1843663
Disease: Urinary bladder sphincter dysfunction
Urinary bladder sphincter dysfunction 		phenotype Finding 28 1 0.100 None 0
CUI: C1836451
Disease: Distal lower limb amyotrophy
Distal lower limb amyotrophy 		disease Disease or Syndrome 29 8 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus 		phenotype Finding 32 5 0.100 None 0
CUI: C0013312
Disease: Dupuytren Contracture
Dupuytren Contracture 		disease Neoplasms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 34 33 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5 		phenotype Finding 34 0.100 None 0