Source: CURATED ×
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: C0024115
Disease: Lung diseases
Lung diseases 		group Respiratory Tract Diseases Disease or Syndrome 78 0.300 limited 0
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 19 149 0.650 None 0.800 1 1 1997 2013
CUI: C1275808
Disease: Congenital central hypoventilation
Congenital central hypoventilation 		disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 7 13 0.600 limited 1.000 1 1 1998 1998
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 87 97 0.400 None 1.000 1 1999 2019
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		group Nervous System Diseases Disease or Syndrome 39 0.380 None 1.000 1 1998 2019
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 79 137 0.370 None 1.000 1 1999 2018
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 111 31 0.370 None 1.000 1 1999 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 17 46 0.340 None 1.000 1 2005 2016
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 70 1 0.330 None 1.000 1 2009 2017
CUI: C0020429
Disease: Hyperalgesia
Hyperalgesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.320 None 1.000 1 2010 2018
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		phenotype Eye Diseases Pathologic Function 21 2 0.310 None 1.000 1 2007 2007
CUI: C2936719
Disease: Mechanical Allodynia
Mechanical Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.310 None 1.000 1 2010 2018
CUI: C0014474
Disease: Ependymoma
Ependymoma 		disease Neoplasms Neoplastic Process 8 2 0.310 None 1.000 1 2004 2009
CUI: C0751214
Disease: Hyperalgesia, Thermal
Hyperalgesia, Thermal 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.310 None 1.000 1 2010 2014
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2007 2007
CUI: C0751088
Disease: Dyskinesia, Medication-Induced
Dyskinesia, Medication-Induced 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders Disease or Syndrome 15 0.300 None 1.000 1 2001 2001
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2007 2007
CUI: C0746857
Disease: Focal Neurologic Deficits
Focal Neurologic Deficits 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2010 2010
CUI: C0683357
Disease: Excessive drinking
Excessive drinking 		phenotype Mental or Behavioral Dysfunction 1 0.300 None 1.000 1 2014 2014
CUI: C0521654
Disease: Neurologic Deficits
Neurologic Deficits 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 6 4 0.300 None 1.000 1 2010 2010
CUI: C0458247
Disease: Allodynia
Allodynia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 84 0.300 None 1.000 1 2010 2010
CUI: C0422837
Disease: Neurological observations
Neurological observations 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 5 0.300 None 1.000 1 2010 2010
CUI: C0393574
Disease: Huntington Disease, Late Onset
Huntington Disease, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12 0.300 None 1.000 1 2007 2007
CUI: C0751211
Disease: Hyperalgesia, Primary
Hyperalgesia, Primary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2010 2010
CUI: C0751212
Disease: Hyperalgesia, Secondary
Hyperalgesia, Secondary 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 84 0.300 None 1.000 1 2010 2010