TBCD, tubulin folding cofactor D, 6904

N. diseases: 129; N. variants: 24
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: C0085584
Disease: Encephalopathies
Encephalopathies 		group Nervous System Diseases Disease or Syndrome 457 64 0.160 None 1.000 6 2016 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 1515 85 0.320 None 1.000 3 2016 2017
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.610 strong 1.000 3 2016 2019
CUI: C3853041
Disease: Severe Congenital Microcephaly
Severe Congenital Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 35 0.300 None 1.000 2 2016 2016
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.300 None 1.000 2 2016 2016
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.300 None 1.000 2 2016 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.400 None 1.000 1 2016 2016
CUI: C0422852
Disease: Seizures, Auditory
Seizures, Auditory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2016 2016
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 300 32 0.400 None 1.000 1 2016 2016
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease Respiratory Tract Diseases Disease or Syndrome 319 23 0.400 None 1.000 1 2016 2016
CUI: C0085997
Disease: Child Development Disorders, Specific
Child Development Disorders, Specific 		disease Mental Disorders Mental or Behavioral Dysfunction 30 0.300 None 1.000 1 2016 2016
CUI: C0085996
Disease: Child Development Deviations
Child Development Deviations 		disease Mental Disorders Mental or Behavioral Dysfunction 29 0.300 None 1.000 1 2016 2016
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 34 8 0.010 None 1.000 1 2017 2017
CUI: C1955869
Disease: Malformations of Cortical Development
Malformations of Cortical Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.300 None 1.000 1 2016 2016
CUI: C0037769
Disease: West Syndrome
West Syndrome 		disease Nervous System Diseases Disease or Syndrome 149 28 0.300 strong 1.000 1 2016 2016
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.300 None 1.000 1 2016 2016
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 210 13 0.300 None 1.000 1 2016 2016
CUI: C0422850
Disease: Seizures, Somatosensory
Seizures, Somatosensory 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Pathologic Function 102 0.300 None 1.000 1 2016 2016
CUI: C0751461
Disease: Paralysis, Spinal, Quadriplegic
Paralysis, Spinal, Quadriplegic 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 2 0.300 None 1.000 1 2016 2016
CUI: C0422854
Disease: Gustatory seizure
Gustatory seizure 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 102 0.300 None 1.000 1 2016 2016
CUI: C0270846
Disease: Epileptic drop attack
Epileptic drop attack 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 143 6 0.300 None 1.000 1 2016 2016
CUI: C0270844
Disease: Tonic Seizures
Tonic Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 108 0.300 None 1.000 1 2016 2016
CUI: C0270824
Disease: Visual seizure
Visual seizure 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 209 0.300 None 1.000 1 2016 2016
CUI: C0270790
Disease: Quadriparesis
Quadriparesis 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 42 5 0.300 None 1.000 1 2016 2016
CUI: C0270715
Disease: Degenerative Diseases, Central Nervous System
Degenerative Diseases, Central Nervous System 		group Nervous System Diseases Disease or Syndrome 43 0.300 None 1.000 1 2016 2016