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.
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2014 2014
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: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None < 0.001 1 2014 2014
CUI: C0005747
Disease: Blepharospasm
Blepharospasm
disease Eye Diseases Disease or Syndrome 44 6 0.100 None 0
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.100 None 0 1
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
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: 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: C0013423
Disease: Dystonia Musculorum Deformans
Dystonia Musculorum Deformans
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 26 1 0.100 None 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2019 2019
CUI: C0019825
Disease: Hoarseness
Hoarseness
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.070 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: 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: 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: 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: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
group Nervous System Diseases Disease or Syndrome 977 39 0.010 None 1.000 1 2015 2015
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
disease Neoplasms Neoplastic Process 2509 386 0.010 None 1.000 1 1 2018 2018
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
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 568 51 0.100 None 0
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura
disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2018 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0