TUBG1, tubulin gamma 1, 7283

N. diseases: 22; N. variants: 3
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 4
disease Disease or Syndrome 2 3 0.700 strong 1.000 3 3 2013 2018
CUI: C0431380
Disease: Cortical Dysplasia
Cortical Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 118 6 0.400 None 1.000 1 2013 2013
Malformations of Cortical Development
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 60 5 0.320 None 1.000 3 2013 2019
CUI: C1956147
Disease: Microlissencephaly
Microlissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 1 0.310 None 1.000 2 2013 2014
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.310 None 1.000 2 2013 2018
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 1 2013 2013
CUI: C0266483
Disease: Pachygyria
Pachygyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 129 8 0.110 None 1.000 1 2018 2018
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1879312
Disease: Agyria
Agyria
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 20 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1848201
Disease: Subcortical Band Heterotopia
Subcortical Band Heterotopia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 30 3 0.100 None 0
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2011 2015
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.020 None 1.000 2 2011 2015
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.010 None 1.000 1 2019 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 2019 2019
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Congenital Abnormality 103 7 0.010 None 1.000 1 2018 2018
CUI: C0266463
Disease: Lissencephaly
Lissencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 71 9 0.010 None 1.000 1 2014 2014
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2015 2015
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 100 54 0.010 None 1.000 1 2013 2013
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 2019 2019