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: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
group Mental or Behavioral Dysfunction 360 56 0.010 None 1.000 1 2013 2013
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2017 2017
CUI: C0276279
Disease: Mink parvovirus infection
Mink parvovirus infection
disease Infections Disease or Syndrome 10 0.010 None 1.000 1 2019 2019
CUI: C0276721
Disease: Phaeohyphomycosis
Phaeohyphomycosis
disease Infections Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0278147
Disease: Radicular pain
Radicular pain
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 23 5 0.010 None 1.000 1 2019 2019
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2017 2017
CUI: C0278660
Disease: Adult Synovial Sarcoma
Adult Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None 1.000 1 2009 2009
Liver and Intrahepatic Biliary Tract Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 1395 73 0.010 None 1.000 1 2019 2019
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 371 44 0.010 None 1.000 1 2016 2016
Transitional cell carcinoma of bladder
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 333 158 0.010 None 1.000 1 2017 2017
Conventional (Clear Cell) Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2346 222 0.010 None 1.000 1 2013 2013
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 34 16 0.010 None 1.000 1 2005 2005
CUI: C0268251
Disease: Gaucher Disease, Type 3 (disorder)
Gaucher Disease, Type 3 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 26 0.010 None 1.000 1 2015 2015
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 72 0.010 None 1.000 1 2018 2018
Muscular Dystrophy, Facioscapulohumeral
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.010 None 1.000 1 2019 2019
CUI: C0240066
Disease: Iron deficiency
Iron deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.010 None 1.000 1 2011 2011
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
disease Eye Diseases Disease or Syndrome 685 663 0.010 None 1.000 1 2017 2017
CUI: C0243038
Disease: Carcinoma, Lewis Lung
Carcinoma, Lewis Lung
disease Neoplasms Neoplastic Process; Experimental Model of Disease 188 0.010 None 1.000 1 2010 2010
Hypertrophic disorder of skin, unspecified
group Skin and Connective Tissue Diseases Disease or Syndrome 62 1 0.010 None 1.000 1 2013 2013
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational
disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.010 None 1.000 1 2018 2018
CUI: C0265101
Disease: Carotid artery occlusion
Carotid artery occlusion
phenotype Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 74 1 0.010 None 1.000 1 2013 2013
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 56 3 0.010 None 1.000 1 2013 2013
CUI: C0266526
Disease: Norrie disease
Norrie disease
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 55 28 0.010 None 1.000 1 2018 2018
CUI: C0267797
Disease: Acute hepatitis
Acute hepatitis
disease Digestive System Diseases Disease or Syndrome 62 2 0.010 None 1.000 1 2019 2019
CUI: C0279982
Disease: Childhood Synovial Sarcoma
Childhood Synovial Sarcoma
disease Neoplasms Neoplastic Process 198 1 0.010 None 1.000 1 2009 2009