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.
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2019 2019
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 1 2018 2018
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma
disease Neoplastic Process 245 9 0.010 None 1.000 1 2012 2012
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex
phenotype Finding 218 11 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0238651
Disease: Ankle clonus
Ankle clonus
phenotype Finding 32 5 0.100 None 0
CUI: C0520823
Disease: Patellar clonus
Patellar clonus
phenotype Finding 6 0.100 None 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy
disease Disease or Syndrome 93 21 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: C1836904
Disease: Spastic/hyperactive bladder
Spastic/hyperactive bladder
phenotype Finding 10 0.100 None 0
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
CUI: C1846017
Disease: Progressive pes cavus
Progressive pes cavus
phenotype Finding 9 0.100 None 0
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation
phenotype Finding 14 2 0.100 None 0
Impaired vibration sensation in the lower limbs
phenotype Finding 39 4 0.100 None 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation
phenotype Finding 10 1 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C4021523
Disease: Upper limb amyotrophy
Upper limb amyotrophy
disease Disease or Syndrome 9 0.100 None 0
CUI: C4024610
Disease: Leg muscle stiffness
Leg muscle stiffness
phenotype Sign or Symptom 13 0.100 None 0
CUI: C4553976
Disease: Urinary Urgency, CTCAE 5
Urinary Urgency, CTCAE 5
phenotype Finding 34 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0042345
Disease: Varicosity
Varicosity
disease Cardiovascular Diseases Disease or Syndrome 188 51 0.100 None 0
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 194 33 0.100 None 0
CUI: C0039273
Disease: Talipes cavus
Talipes cavus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 213 2 0.100 None 0