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: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.600 1.000 14 2012 2016
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.520 1.000 4 2012 2015
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 1936 180 0.500 0.941 19 1 2012 2017
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 740 44 0.410 1.000 2 1 2014 2016
CUI: C0206638
Disease: Giant Cell Tumor of Bone
Giant Cell Tumor of Bone
disease Neoplasms Neoplastic Process 65 0.330 1.000 3 2014 2018
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 503 11 0.300 2 2012 2013
CUI: C0334588
Disease: Giant Cell Glioblastoma
Giant Cell Glioblastoma
disease Neoplasms Neoplastic Process 77 1 0.300 2 2012 2013
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
disease Neoplasms Neoplastic Process 72 0.300 2 2012 2013
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 175 16 0.300 0
CUI: C1842010
Disease: Glioma of Brain, Familial
Glioma of Brain, Familial
disease Neoplasms; Nervous System Diseases Neoplastic Process 4 2 0.300 0
CUI: C2750850
Disease: GLIOMA SUSCEPTIBILITY 1
GLIOMA SUSCEPTIBILITY 1
phenotype Finding 5 4 0.300 0
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Disease or Syndrome 467 60 0.300 strong 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: C0014474
Disease: Ependymoma
Ependymoma
disease Neoplasms Neoplastic Process 127 3 0.300 0
CUI: C0206725
Disease: Subependymal Glioma
Subependymal Glioma
disease Neoplasms Neoplastic Process 12 2 0.300 0
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
disease Neoplastic Process 16 44 0.100 1 2 2016 2016
CUI: C0206686
Disease: Adrenocortical carcinoma
Adrenocortical carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 184 39 0.100 1 1 2016 2016
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 645 163 0.100 1 1 2016 2016
CUI: C0008441
Disease: Chondroblastoma
Chondroblastoma
disease Neoplasms Neoplastic Process 11 0.020 1.000 2 2016 2018
CUI: C0017525
Disease: Giant Cell Tumors
Giant Cell Tumors
group Neoplasms Neoplastic Process 49 1 0.020 1.000 2 2018 2018
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nervous System Diseases Disease or Syndrome 20 19 0.010 1.000 1 2013 2013
CUI: C2986658
Disease: Diffuse Intrinsic Pontine Glioma
Diffuse Intrinsic Pontine Glioma
disease Neoplastic Process 14 3 0.010 1.000 1 2012 2012
CUI: C1332610
Disease: Brain Stem Glioblastoma
Brain Stem Glioblastoma
disease Neoplastic Process 1 0.010 1.000 1 2016 2016
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplastic Process 188 1 0.010 1.000 1 2013 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.010 1.000 1 2013 2013