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: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 533 12 0.010 None 1.000 1 2011 2011
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell
disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 2006 2006
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2007 2007
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma
disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2007 2007
Squamous cell carcinoma of oropharynx
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None 1.000 1 2014 2014
Morphologically abnormal structure (morphologic abnormality)
group Anatomical Abnormality 20 0.010 None 1.000 1 2005 2005
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma
disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2012 2012
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 2002 2002
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder
group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2007 2007
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder)
phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.010 None 1.000 1 1980 1980
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.010 None 1.000 1 1980 1980
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2003 2003
CUI: C0240803
Disease: Primary cerebral lymphoma
Primary cerebral lymphoma
disease Neoplasms; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 13 0.010 None 1.000 1 2005 2005
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.010 None 1.000 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2017 2017
CUI: C0085655
Disease: Polymyositis
Polymyositis
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 1990 1990
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 1991 1991
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 766 118 0.010 None 1.000 1 2018 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.010 None 1.000 1 2013 2013
CUI: C0205648
Disease: Adenoma, Microcystic
Adenoma, Microcystic
disease Neoplasms Neoplastic Process 45 0.010 None 1.000 1 2003 2003
CUI: C0205825
Disease: Liposarcoma, Pleomorphic
Liposarcoma, Pleomorphic
disease Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2013 2013
CUI: C0221269
Disease: Pseudolymphoma
Pseudolymphoma
disease Hemic and Lymphatic Diseases Neoplastic Process 58 0.010 None 1.000 1 2011 2011
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.010 None 1.000 1 2018 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2689 322 0.010 None 1.000 1 2002 2002
CUI: C0600041
Disease: Infective cystitis
Infective cystitis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 106 0.010 None 1.000 1 2013 2013