TUBA3D, tubulin alpha 3d, 113457

N. diseases: 10; 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.
CUI: C4693660
Disease: KERATOCONUS 9
KERATOCONUS 9
disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 147 10 0.100 None 0
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Congenital Abnormality 37 253 0.010 None 1.000 1 1998 1998
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 1998 1998
CUI: C0162361
Disease: Hidrotic Ectodermal Dysplasia
Hidrotic Ectodermal Dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 7 0.010 None 1.000 1 1998 1998
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.010 None 1.000 1 2005 2005
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.010 None 1.000 1 2017 2017
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 426 87 0.010 None 1.000 1 2018 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.010 None 1.000 1 2018 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.010 None 1.000 1 1998 1998