TUBB3, tubulin beta 3 class III, 10381

N. diseases: 259; N. variants: 25
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: C3808397
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 		disease Disease or Syndrome 1 10 0.700 None 1.000 3 10 2010 2018
CUI: C0234435
Disease: Syncope, Tussive
Syncope, Tussive 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2018 2018
CUI: C0234175
Disease: Palmar reflex
Palmar reflex 		phenotype Organism Function 1 0.100 None 0
CUI: C1851087
Disease: Agenesis of the anterior commissure
Agenesis of the anterior commissure 		phenotype Finding 1 0.100 None 0
CUI: C4024789
Disease: Nonprogressive restrictive external ophthalmoplegia
Nonprogressive restrictive external ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 1 0.100 None 0
CUI: C0152221
Disease: Paralytic strabismus
Paralytic strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 2 0.010 None < 0.001 1 2016 2016
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 2010 2010
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 2010 2010
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 0.200 None 1.000 1 2010 2010
CUI: C1846911
Disease: Compensatory chin elevation
Compensatory chin elevation 		phenotype Finding 2 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: C4073008
Disease: Abnormal best corrected visual acuity test
Abnormal best corrected visual acuity test 		phenotype Finding 2 0.100 None 0
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 0.900 None 1.000 3 9 2010 2017
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 0.210 None 1.000 2 2000 2010
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 2010 2010
CUI: C4476710
Disease: Delayed ability to sit
Delayed ability to sit 		phenotype Finding 3 1 0.100 None 0
CUI: C0346975
Disease: Secondary malignant neoplasm of rectum
Secondary malignant neoplasm of rectum 		disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2018 2018
CUI: C0861772
Disease: Stage IV Rectal Carcinoma
Stage IV Rectal Carcinoma 		disease Neoplastic Process 4 0.010 None 1.000 1 2018 2018
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 0.200 None 1.000 1 2010 2010
CUI: C4022906
Disease: Delayed social development
Delayed social development 		phenotype Finding 5 1 0.100 None 0
CUI: C4476591
Disease: Dysgenesis of the hippocampus
Dysgenesis of the hippocampus 		disease Congenital Abnormality 5 0.100 None 0
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		disease Congenital Abnormality 5 1 0.100 None 0
CUI: C0028850
Disease: Ocular Motility Disorders
Ocular Motility Disorders 		group Eye Diseases; Nervous System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2010 2010
CUI: C0393907
Disease: Axonal sensorimotor neuropathy
Axonal sensorimotor neuropathy 		disease Disease or Syndrome 9 2 0.010 None 1.000 1 2015 2015