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: C0268109
Disease: Chronic tophaceous gout
Chronic tophaceous gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 1 0.010 None 1.000 1 1 2014 2014
CUI: C1841837
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 		disease Finding 1 2 0.600 limited 1.000 1 2 2016 2016
CUI: C1996989
Disease: Diarrhea due to drug
Diarrhea due to drug 		disease Disease or Syndrome 1 0.010 None 1.000 1 2006 2006
CUI: C4304338
Disease: X-linked sideroblastic anemia with spinocerebellar ataxia
X-linked sideroblastic anemia with spinocerebellar ataxia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.010 None 1.000 1 1998 1998
CUI: C0744466
Disease: gout tophaceous
gout tophaceous 		disease Disease or Syndrome 2 3 0.010 None 1.000 1 2 2014 2014
CUI: C0851358
Disease: Metabolism and nutrition disorders
Metabolism and nutrition disorders 		group Disease or Syndrome 2 0.010 None 1.000 1 2018 2018
CUI: C0796244
Disease: MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder)
MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 7 0.010 None 1.000 1 2007 2007
CUI: C1845499
Disease: MENTAL RETARDATION, X-LINKED 77
MENTAL RETARDATION, X-LINKED 77 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2003 2003
CUI: C0267008
Disease: Erythroplakia of mouth
Erythroplakia of mouth 		disease Disease or Syndrome 5 0.010 None 1.000 1 2020 2020
CUI: C0431132
Disease: Malignant lymphoma, stem cell type
Malignant lymphoma, stem cell type 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 6 0.010 None 1.000 1 2018 2018
CUI: C3549252
Disease: response to statin
response to statin 		phenotype Organism Function 6 8 0.100 None 1.000 1 1 2012 2012
CUI: C4015286
Disease: MACULAR DEGENERATION, EARLY-ONSET
MACULAR DEGENERATION, EARLY-ONSET 		disease Disease or Syndrome 6 3 0.010 None 1.000 1 2000 2000
CUI: C0265339
Disease: Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome 9 15 0.010 None 1.000 1 2001 2001
CUI: C1845862
Disease: Creatine deficiency, X-linked
Creatine deficiency, X-linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 10 26 0.010 None 1.000 1 2008 2008
CUI: C0342907
Disease: Sitosterolemia
Sitosterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Congenital Abnormality 11 20 0.010 None 1.000 1 2000 2000
CUI: C0278983
Disease: Non-small cell lung cancer stage IIIA
Non-small cell lung cancer stage IIIA 		disease Neoplastic Process 12 0.010 None 1.000 1 2017 2017
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 12 0.010 None 1.000 1 1998 1998
CUI: C3469526
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP F
FANCONI ANEMIA, COMPLEMENTATION GROUP F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 13 6 0.010 None 1.000 1 2012 2012
CUI: C0221248
Disease: Tophus
Tophus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3 0.010 None 1.000 1 2 2017 2017
CUI: C4749367
Disease: Mesial temporal lobe epilepsy with hippocampal sclerosis
Mesial temporal lobe epilepsy with hippocampal sclerosis 		disease Nervous System Diseases Disease or Syndrome 14 7 0.010 None 1.000 1 2014 2014
CUI: C0162529
Disease: Colitis, Ischemic
Colitis, Ischemic 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 15 3 0.010 None 1.000 1 2012 2012
CUI: C0747820
Disease: Malaria, antepartum
Malaria, antepartum 		disease Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C2316786
Disease: Chronic kidney disease stage 2
Chronic kidney disease stage 2 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 1 0.010 None 1.000 1 2019 2019
CUI: C0302362
Disease: Brucella melitensis infection
Brucella melitensis infection 		disease Infections Disease or Syndrome 17 0.010 None 1.000 1 2004 2004
CUI: C1266177
Disease: Dysembryoplastic neuroepithelial tumor
Dysembryoplastic neuroepithelial tumor 		disease Neoplasms Neoplastic Process 17 2 0.010 None 1.000 1 2003 2003