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: C0280962
Disease: Bone Marrow Suppression
Bone Marrow Suppression
disease Hemic and Lymphatic Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 2013 2013
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Respiratory Tract Diseases; Immune System Diseases; Cardiovascular Diseases Congenital Abnormality 21 19 0.010 None 1.000 1 2012 2012
Trifunctional Protein Deficiency With Myopathy And Neuropathy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 23 34 0.010 None 1.000 1 2010 2010
CUI: C0278802
Disease: Recurrent Endometrial Cancer
Recurrent Endometrial Cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 24 2 0.010 None 1.000 1 2018 2018
CUI: C0030662
Disease: Gambling, Pathological
Gambling, Pathological
disease Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 26 9 0.010 None 1.000 1 2018 2018
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis
disease Cardiovascular Diseases Disease or Syndrome 26 1 0.010 None 1.000 1 2004 2004
CUI: C0028047
Disease: Nicotine withdrawal
Nicotine withdrawal
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 27 1 0.010 None 1.000 1 2017 2017
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma
disease Neoplasms Neoplastic Process 29 4 0.010 None < 0.001 1 2008 2008
CUI: C0677865
Disease: Brain Stem Glioma
Brain Stem Glioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 29 45 0.010 None 1.000 1 2012 2012
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 29 0.010 None 1.000 1 2018 2018
Childhood Anaplastic Oligodendroglioma
disease Neoplasms Neoplastic Process 29 4 0.010 None < 0.001 1 2008 2008
CUI: C0007125
Disease: Carcinoma, Ehrlich Tumor
Carcinoma, Ehrlich Tumor
disease Neoplasms Neoplastic Process; Experimental Model of Disease 30 0.010 None 1.000 1 2012 2012
CUI: C1832916
Disease: Timothy syndrome
Timothy syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular Diseases Disease or Syndrome 32 9 0.010 None 1.000 1 2004 2004
CUI: C0012813
Disease: Diverticulitis
Diverticulitis
disease Digestive System Diseases Disease or Syndrome 38 13 0.010 None 1.000 1 2020 2020
CUI: C0221106
Disease: Alkalemia
Alkalemia
disease Disease or Syndrome 38 0.010 None 1.000 1 2017 2017
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.010 None 1.000 1 2008 2008
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity
phenotype Finding 41 2 0.100 None 0
CUI: C3146254
Disease: Stage III Colon Cancer AJCC v7
Stage III Colon Cancer AJCC v7
disease Neoplastic Process 42 3 0.010 None 1.000 1 2007 2007
CUI: C4525124
Disease: Stage III Colon Cancer AJCC v8
Stage III Colon Cancer AJCC v8
disease Neoplastic Process 42 3 0.010 None 1.000 1 2007 2007
CUI: C0278480
Disease: Stage III Colon Cancer
Stage III Colon Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 43 3 0.010 None 1.000 1 2007 2007
CUI: C1135161
Disease: Stage 4S neuroblastoma
Stage 4S neuroblastoma
disease Neoplastic Process 45 0.010 None 1.000 1 2006 2006
CUI: C0007121
Disease: Bronchogenic Carcinoma
Bronchogenic Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 47 1 0.010 None 1.000 1 2007 2007
Malignant Female Reproductive System Neoplasm
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 47 5 0.010 None < 0.001 1 2013 2013
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None 1.000 1 2019 2019
CUI: C0011127
Disease: Pressure Ulcer
Pressure Ulcer
disease Skin and Connective Tissue Diseases Disease or Syndrome 49 1 0.010 None 1.000 1 2019 2019