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.
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
disease Disease or Syndrome 1 14 0.900 None 1.000 5 14 2009 2016
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.410 None 1.000 2 2009 2014
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.330 None 1.000 4 2009 2019
CUI: C0266483
Disease: Pachygyria
Pachygyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.310 None 1.000 2 2012 2013
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: C0024667
Disease: Animal Mammary Neoplasms
Animal Mammary Neoplasms
phenotype Neoplasms; Animal Diseases Neoplastic Process 147 0.300 None 1.000 1 2002 2002
CUI: C1257925
Disease: Mammary Carcinoma, Animal
Mammary Carcinoma, Animal
disease Neoplasms; Animal Diseases Neoplastic Process 144 0.300 None 1.000 1 2002 2002
CUI: C0205699
Disease: Carcinomatosis
Carcinomatosis
phenotype Neoplasms Neoplastic Process 186 2 0.300 None 1.000 1 2002 2002
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
disease Neoplasms Neoplastic Process 283 8 0.300 None 1.000 1 2002 2002
CUI: C0024668
Disease: Mammary Neoplasms, Experimental
Mammary Neoplasms, Experimental
phenotype Neoplasms Neoplastic Process; Experimental Model of Disease 218 0.300 None 1.000 1 2002 2002
CUI: C0205696
Disease: Anaplastic carcinoma
Anaplastic carcinoma
disease Neoplasms Neoplastic Process 232 3 0.300 None 1.000 1 2002 2002
CUI: C0007097
Disease: Carcinoma
Carcinoma
group Neoplasms Neoplastic Process 2462 103 0.300 None 1.000 1 2002 2002
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: C0205697
Disease: Carcinoma, Spindle-Cell
Carcinoma, Spindle-Cell
disease Neoplasms Neoplastic Process 218 5 0.300 None 1.000 1 2002 2002
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.210 None 1.000 2 2012 2013
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: 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: 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
Other reduction deformities of brain
disease Congenital Abnormality 2 0.200 None 1.000 1 2013 2013
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: 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: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 199 29 0.150 None 1.000 5 2 2009 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.120 None 1.000 2 2012 2014
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.110 None 1.000 1 2014 2014
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.110 None 1.000 1 2017 2017