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: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 8 0.010 None 1.000 1 2017 2017
Multiple Sclerosis, Secondary Progressive
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 20 0.010 None 1.000 1 2018 2018
CUI: C1262048
Disease: Glial scar
Glial scar
phenotype Acquired Abnormality 51 0.010 None 1.000 1 2018 2018
Mycobacterium avium-intracellulare Infection
disease Infections Disease or Syndrome 58 5 0.010 None 1.000 1 2019 2019
CUI: C0524662
Disease: Opiate Addiction
Opiate Addiction
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 81 46 0.010 None 1.000 1 2018 2018
CUI: C0149940
Disease: Sciatic Neuropathy
Sciatic Neuropathy
disease Nervous System Diseases Disease or Syndrome 115 0.200 None 1.000 1 2006 2006
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.200 None 1.000 2 2011 2013
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 171 45 0.010 None 1.000 1 2018 2018
CUI: C0006267
Disease: Bronchiectasis
Bronchiectasis
disease Respiratory Tract Diseases Disease or Syndrome 190 15 0.010 None 1.000 1 2019 2019
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 239 31 0.010 None 1.000 1 2006 2006
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 251 94 0.010 None 1.000 1 2014 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2019 2019
Infection caused by Helicobacter pylori
disease Infections Disease or Syndrome 337 56 0.010 None 1.000 1 2019 2019
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 354 33 0.220 None 1.000 3 2015 2019
Experimental Organism Basal Cell Carcinoma
phenotype Neoplasms Neoplastic Process 437 63 0.010 None 1.000 1 2017 2017
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
disease Neoplasms Neoplastic Process 557 91 0.010 None 1.000 1 2017 2017
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 593 24 0.020 None 1.000 2 2018 2019
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.030 None 1.000 3 2018 2019
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.020 None 1.000 2 2012 2014
CUI: C0024115
Disease: Lung diseases
Lung diseases
group Respiratory Tract Diseases Disease or Syndrome 700 50 0.010 None 1.000 1 2019 2019
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None 1.000 1 2019 2019
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
group Neoplasms; Stomatognathic Diseases Neoplastic Process 756 184 0.010 None 1.000 1 2019 2019
CUI: C0027796
Disease: Neuralgia
Neuralgia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 767 16 0.010 None 1.000 1 2017 2017
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.010 None 1.000 1 2018 2018
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.020 None 1.000 2 2012 2014