KIF21A, kinesin family member 21A, 55605

N. diseases: 48; N. variants: 8
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: C1851102
Disease: Fibrosis Of Extraocular Muscles, Congenital, 1
Fibrosis Of Extraocular Muscles, Congenital, 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 7 0.970 strong 0.923 13 7 2001 2016
CUI: C2751105
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder)
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.600 None 1.000 1 3 2014 2014
CUI: C1302995
Disease: Congenital Fibrosis of the Extraocular Muscles
Congenital Fibrosis of the Extraocular Muscles 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 13 4 0.500 strong 1.000 39 1 2000 2019
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.300 None 1.000 1 2012 2012
CUI: C1865915
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.220 None 1.000 3 2000 2014
CUI: C2748801
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 3 9 0.200 None 1.000 1 2014 2014
CUI: C2750404
Disease: Fibrosis of Extraocular Muscles, Congenital, 3C
Fibrosis of Extraocular Muscles, Congenital, 3C 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.200 None 1.000 1 2014 2014
CUI: C4015552
Disease: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5 		disease Disease or Syndrome 3 2 0.200 None 1.000 1 2014 2014
CUI: C1836217
Disease: Tukel syndrome
Tukel syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 0.200 None 1.000 1 2014 2014
CUI: C0015310
Disease: Exotropia
Exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 78 23 0.110 None 1.000 1 1 2011 2011
CUI: C1846911
Disease: Compensatory chin elevation
Compensatory chin elevation 		phenotype Finding 2 0.100 None 0
CUI: C1276000
Disease: Sensory exotropia
Sensory exotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C1851107
Disease: Levator palpebrae superioris atrophy
Levator palpebrae superioris atrophy 		phenotype Finding 2 0.100 None 0
CUI: C1851108
Disease: Superior rectus atrophy
Superior rectus atrophy 		phenotype Finding 2 0.100 None 0
CUI: C0339624
Disease: Secondary Esotropia
Secondary Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		phenotype Eye Diseases Finding 50 14 0.100 None 0
CUI: C1865918
Disease: Restrictive external ophthalmoplegia
Restrictive external ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 3 2 0.100 None 0
CUI: C0014877
Disease: Esotropia
Esotropia 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 121 39 0.100 None 0
CUI: C0016059
Disease: Fibrosis
Fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.060 None 1.000 6 2003 2007
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.040 None 1.000 4 2002 2009
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.040 None 1.000 4 2003 2012
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 216 12 0.030 None 1.000 3 2008 2017
CUI: C0033377
Disease: Ptosis
Ptosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.030 None 1.000 3 2002 2009
CUI: C0028850
Disease: Ocular Motility Disorders
Ocular Motility Disorders 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.030 None 1.000 3 2001 2014
CUI: C0013261
Disease: Duane Retraction Syndrome
Duane Retraction Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 32 2 0.020 None 1.000 2 2007 2010