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: C0519826
Disease: ASSAY FOR TACROLIMUS
ASSAY FOR TACROLIMUS 		phenotype Laboratory Procedure 2 3 0.100 None 1.000 2 1 2018 2019
CUI: C0036214
Disease: Sarcoma, Engelbreth-Holm-Swarm
Sarcoma, Engelbreth-Holm-Swarm 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 2 0.010 None 1.000 1 2006 2006
CUI: C0410445
Disease: Osteomalacia secondary to drug
Osteomalacia secondary to drug 		disease Disease or Syndrome 4 0.010 None 1.000 1 2006 2006
CUI: C1861559
Disease: CHROMATE RESISTANCE (disorder)
CHROMATE RESISTANCE (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.010 None 1.000 1 2017 2017
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2018 2018
CUI: C0342879
Disease: Primary hypercholesterolemia
Primary hypercholesterolemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 7 2 0.010 None 1.000 1 2004 2004
CUI: C0520904
Disease: Postoperative Nausea
Postoperative Nausea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 7 1 0.010 None 1.000 1 2013 2013
CUI: C3203671
Disease: CYP2D6 polymorphism
CYP2D6 polymorphism 		disease Disease or Syndrome 7 5 0.010 None 1.000 1 2018 2018
CUI: C1292776
Disease: Therapy-related acute myeloid leukemia and myelodysplastic syndrome
Therapy-related acute myeloid leukemia and myelodysplastic syndrome 		disease Neoplasms Neoplastic Process 11 0.010 None 1.000 1 2002 2002
CUI: C0496870
Disease: Benign neoplasm of liver
Benign neoplasm of liver 		disease Digestive System Diseases; Neoplasms Neoplastic Process 13 0.010 None < 0.001 1 2012 2012
CUI: C1535964
Disease: Cholestatic pruritus
Cholestatic pruritus 		phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Sign or Symptom 15 0.010 None 1.000 1 2018 2018
CUI: C0023885
Disease: Liver Abscess
Liver Abscess 		disease Digestive System Diseases; Infections Disease or Syndrome 22 1 0.010 None 1.000 1 2003 2003
CUI: C0221391
Disease: Melanosis coli
Melanosis coli 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 22 5 0.010 None 1.000 1 2015 2015
CUI: C0032708
Disease: Disorders of Porphyrin Metabolism
Disorders of Porphyrin Metabolism 		group Nutritional and Metabolic Diseases Disease or Syndrome 26 7 0.010 None 1.000 1 2002 2002
CUI: C2825306
Disease: Treatment related leukaemia
Treatment related leukaemia 		disease Neoplasms Neoplastic Process 30 0.030 None 1.000 3 1998 2004
CUI: C0600142
Disease: Hot flushes
Hot flushes 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 32 1 0.020 None 1.000 2 2011 2014
CUI: C0043459
Disease: Zellweger Syndrome
Zellweger Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2017 2017
CUI: C0154409
Disease: Recurrent major depressive episodes
Recurrent major depressive episodes 		disease Mental Disorders Mental or Behavioral Dysfunction 36 9 0.010 None 1.000 1 2019 2019
CUI: C0239337
Disease: Deformity of limb
Deformity of limb 		group Anatomical Abnormality 37 3 0.010 None 1.000 1 2016 2016
CUI: C0035112
Disease: Reoviridae Infections
Reoviridae Infections 		group Infections Disease or Syndrome 38 0.010 None 1.000 1 2018 2018
CUI: C0238052
Disease: Xanthomatosis, Cerebrotendinous
Xanthomatosis, Cerebrotendinous 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 71 0.010 None 1.000 1 2001 2001
CUI: C1960870
Disease: Transformed migraine
Transformed migraine 		disease Nervous System Diseases Disease or Syndrome 43 1 0.010 None 1.000 1 2010 2010
CUI: C1541317
Disease: Adult Gliosarcoma
Adult Gliosarcoma 		disease Neoplasms Neoplastic Process 44 5 0.010 None 1.000 1 2009 2009
CUI: C3899658
Disease: Childhood Gliosarcoma
Childhood Gliosarcoma 		disease Neoplasms Neoplastic Process 44 5 0.010 None 1.000 1 2009 2009
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 47 6 0.010 None < 0.001 1 2008 2008