TUBB2B, tubulin beta 2B class IIb, 347733

N. diseases: 82; N. variants: 14
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: C3552236
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 		disease Disease or Syndrome 1 14 0.900 None 1.000 5 14 2009 2016
CUI: C4024959
Disease: Frontoparietal cortical dysplasia
Frontoparietal cortical dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.100 None 0
CUI: C4476592
Disease: Dysgenesis of the basal ganglia
Dysgenesis of the basal ganglia 		disease Congenital Abnormality 1 0.100 None 0
CUI: C0266461
Disease: Congenital absence of part of brain
Congenital absence of part of brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.200 None 1.000 1 2013 2013
CUI: C0266462
Disease: Congenital hypoplasia of part of brain
Congenital hypoplasia of part of brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 2 0.200 None 1.000 1 2013 2013
CUI: C0477971
Disease: Other reduction deformities of brain
Other reduction deformities of brain 		disease Congenital Abnormality 2 0.200 None 1.000 1 2013 2013
CUI: C2362742
Disease: Microgyria
Microgyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 2 0.200 None 1.000 1 2013 2013
CUI: C4024960
Disease: Unilateral polymicrogyria
Unilateral polymicrogyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 0.100 None 0
CUI: C3279674
Disease: Frontoparietal polymicrogyria
Frontoparietal polymicrogyria 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 4 0.100 None 0
CUI: C4476625
Disease: Abnormal temper tantrums
Abnormal temper tantrums 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 4 0.100 None 0
CUI: C4021845
Disease: Oromotor apraxia
Oromotor apraxia 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 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 0.010 None 1.000 1 2012 2012
CUI: C4025711
Disease: Abnormal caudate nucleus morphology
Abnormal caudate nucleus morphology 		phenotype Anatomical Abnormality 9 1 0.100 None 0
CUI: C0266484
Disease: Schizencephaly
Schizencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 10 6 0.100 None 0
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 0.310 None 1.000 1 1 2012 2012
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.200 None 1.000 1 2013 2013
CUI: C1840380
Disease: Persistent cavum septum pellucidum
Persistent cavum septum pellucidum 		phenotype Finding 17 2 0.100 None 0
CUI: C0394006
Disease: Dysequilibrium syndrome
Dysequilibrium syndrome 		disease Nervous System Diseases Disease or Syndrome 20 1 0.300 None 1.000 1 2017 2017
CUI: C1879312
Disease: Agyria
Agyria 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.200 None 1.000 1 2013 2013
CUI: C1856409
Disease: Dilation of lateral ventricles
Dilation of lateral ventricles 		phenotype Finding 23 3 0.100 None 0
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 2014 2014
CUI: C1848529
Disease: Hypoplasia of the pons
Hypoplasia of the pons 		phenotype Finding 30 3 0.100 None 0
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.020 None 1.000 2 2014 2016
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.010 None 1.000 1 2016 2016
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 0.100 None 0