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: C0522205
Disease: Sexual inhibition
Sexual inhibition 		phenotype Mental Disorders Mental or Behavioral Dysfunction 2 0.020 None 1.000 2 2018 2018
CUI: C4727458
Disease: Metastatic Fibrolamellar Carcinoma
Metastatic Fibrolamellar Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2020 2020
CUI: C0221760
Disease: brain cyst
brain cyst 		disease Disease or Syndrome 18 0.010 None 1.000 1 2018 2018
CUI: C0236788
Disease: Bipolar II disorder
Bipolar II disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 21 12 0.010 None 1.000 1 2004 2004
CUI: C0344559
Disease: Irido-corneo-trabecular dysgenesis (disorder)
Irido-corneo-trabecular dysgenesis (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 35 12 0.010 None 1.000 1 2016 2016
CUI: C0334287
Disease: Fibrolamellar Hepatocellular Carcinoma
Fibrolamellar Hepatocellular Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 46 0.400 None 1.000 16 2014 2020
CUI: C0041228
Disease: African Trypanosomiasis
African Trypanosomiasis 		disease Infections Disease or Syndrome 55 2 0.010 None 1.000 1 2010 2010
CUI: C0206138
Disease: CREST Syndrome
CREST Syndrome 		disease Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 59 6 0.010 None 1.000 1 2013 2013
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 64 11 0.010 None 1.000 1 2015 2015
CUI: C0752125
Disease: Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia Type 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 78 2 0.010 None 1.000 1 2004 2004
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 83 46 0.010 None 1.000 1 2004 2004
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.010 None 1.000 1 2018 2018
CUI: C0040558
Disease: Toxoplasmosis
Toxoplasmosis 		disease Infections Disease or Syndrome 112 0.010 None 1.000 1 2018 2018
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 118 37 0.010 None 1.000 1 2014 2014
CUI: C1839259
Disease: Bulbo-Spinal Atrophy, X-Linked
Bulbo-Spinal Atrophy, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 126 30 0.010 None 1.000 1 2000 2000
CUI: C0024408
Disease: Machado-Joseph Disease
Machado-Joseph Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 135 12 0.030 None 1.000 3 1999 2018
CUI: C0018834
Disease: Heartburn
Heartburn 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.010 None 1.000 1 2018 2018
CUI: C0024535
Disease: Malaria, Falciparum
Malaria, Falciparum 		disease Infections Disease or Syndrome 158 19 0.010 None 1.000 1 2019 2019
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
AMYOTROPHIC LATERAL SCLEROSIS 1 		disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 164 139 0.010 None 1.000 1 2002 2002
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		disease Infections Disease or Syndrome 166 38 0.010 None 1.000 1 2019 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None 1.000 1 2004 2004
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		disease Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 198 59 0.010 None 1.000 1 2019 2019
CUI: C0730328
Disease: Central Serous Chorioretinopathy
Central Serous Chorioretinopathy 		disease Eye Diseases Disease or Syndrome 211 10 0.010 None 1.000 1 2012 2012
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.010 None 1.000 1 2004 2004
CUI: C0011175
Disease: Dehydration
Dehydration 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 295 6 0.010 None 1.000 1 2018 2018