TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
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.
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 4 0.720 None 1.000 7 4 2013 2017
CUI: C1860315
Disease: Whispering dysphonia, hereditary
Whispering dysphonia, hereditary
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 0.620 None 1.000 5 2013 2016
CUI: C2676244
Disease: Leukodystrophy, Hypomyelinating, 6
Leukodystrophy, Hypomyelinating, 6
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 28 0.600 None 1.000 20 28 2013 2018
CUI: C0013421
Disease: Dystonia
Dystonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.500 None 1.000 15 1 2011 2018
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.400 None 1.000 1 2015 2015
CUI: C1527344
Disease: Dysphonia
Dysphonia
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction 77 4 0.170 None 1.000 7 1 2011 2018
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 190 27 0.140 None 1.000 4 2014 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.130 None 1.000 3 2012 2019
CUI: C1963946
Disease: Laryngeal dystonia
Laryngeal dystonia
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 2 0.120 None 1.000 2 2 2013 2016
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.110 None 1.000 1 2017 2017
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.110 None 1.000 1 2013 2013
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease Disease or Syndrome 321 67 0.110 None 1.000 1 2014 2014
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 20 2 2002 2017
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group Nervous System Diseases Disease or Syndrome 362 247 0.100 None 1.000 20 1 2002 2017
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
group Nervous System Diseases Disease or Syndrome 167 37 0.100 None 1.000 13 2011 2018
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 197 21 0.100 None 1.000 1 1 2014 2014
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy
phenotype Finding 32 6 0.100 None 1.000 1 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 2 2014 2014
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.100 None 1.000 1 1 2014 2014
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 1.000 1 1 2014 2014
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 1.000 1 1 2014 2014
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia
phenotype Anatomical Abnormality 17 3 0.100 None 1.000 1 1 2014 2014
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
phenotype Finding 29 6 0.100 None 1.000 1 2 2014 2014
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 1.000 1 1 2014 2014
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 1.000 1 1 2014 2014