TUBA8, tubulin alpha 8, 51807

N. diseases: 32; N. variants: 2
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.
Polymicrogyria With Optic Nerve Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 2 1 0.610 1.000 1 1 2009 2009
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 836 665 0.310 1.000 1 2006 2006
Malformations of Cortical Development
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 98 2 0.300 strong 1 2009 2009
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Nervous System Diseases Congenital Abnormality 143 6 0.300 strong 1 2009 2009
CUI: C0007820
Disease: Cerebrovascular Disorders
Cerebrovascular Disorders
group Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 177 19 0.300 limited 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 strong 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 0
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 282 676 0.100 1 1 2012 2012
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex
phenotype Sign or Symptom 194 0.100 0
CUI: C1842688
Disease: Hypoplasia of the brainstem
Hypoplasia of the brainstem
phenotype Finding 37 0.100 0
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 111 19 0.100 0
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities
disease Mental or Behavioral Dysfunction 60 0.100 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly
disease Nervous System Diseases Congenital Abnormality 5 0.100 0
CUI: C0424688
Disease: Small head
Small head
phenotype Finding 569 57 0.100 0
CUI: C0338502
Disease: Hypoplasia of the optic nerve
Hypoplasia of the optic nerve
disease Disease or Syndrome 29 1 0.100 0
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 109 11 0.100 0
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.100 0
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.100 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.100 0
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
disease Nutritional and Metabolic Diseases Disease or Syndrome 376 33 0.010 1.000 1 2001 2001
CUI: C0023895
Disease: Liver diseases
Liver diseases
group Digestive System Diseases Disease or Syndrome 605 26 0.010 1.000 1 2000 2000
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.010 1.000 1 1999 1999