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: C0409931
Disease: Osteoarthritis of ankle
Osteoarthritis of ankle 		disease Musculoskeletal Diseases Disease or Syndrome 5 0.010 None 1.000 1 2019 2019
CUI: C3267003
Disease: Vascular endothelial growth factor overexpression
Vascular endothelial growth factor overexpression 		disease Disease or Syndrome 26 0.010 None 1.000 1 2016 2016
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		disease Endocrine System Diseases Disease or Syndrome 39 1 0.010 None 1.000 1 2011 2011
CUI: C0234245
Disease: Visceral Pain
Visceral Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 58 0.010 None 1.000 1 2019 2019
CUI: C0025261
Disease: Memory Disorders
Memory Disorders 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 62 0.010 None 1.000 1 2018 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2019 2019
CUI: C1514422
Disease: Glioblastoma, IDH-Wildtype
Glioblastoma, IDH-Wildtype 		disease Neoplasms Neoplastic Process 75 4 0.200 None 1.000 1 2013 2013
CUI: C0232939
Disease: Primary physiologic amenorrhea
Primary physiologic amenorrhea 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 129 10 0.010 None 1.000 1 2016 2016
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 132 36 0.200 None 1.000 1 2016 2016
CUI: C0020541
Disease: Portal Hypertension
Portal Hypertension 		disease Digestive System Diseases Disease or Syndrome 167 9 0.210 None 1.000 1 2016 2016
CUI: C4722099
Disease: High grade glioma
High grade glioma 		disease Neoplasms Neoplastic Process 190 15 0.010 None 1.000 1 2016 2016
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 194 11 0.020 None 1.000 2 2013 2018
CUI: C0341439
Disease: Chronic liver disease
Chronic liver disease 		group Digestive System Diseases Disease or Syndrome 196 14 0.010 None 1.000 1 2016 2016
CUI: C0234251
Disease: Inflammatory pain
Inflammatory pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 266 1 0.020 None 1.000 2 2018 2019
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 299 90 0.020 None 1.000 2 2016 2016
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 333 115 0.020 None 1.000 2 2016 2016
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 478 667 0.200 None 1.000 1 2016 2016
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype Male Urogenital Diseases Disease or Syndrome 516 146 0.010 None 1.000 1 1 2011 2011
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2017 2017
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 2 2 2018 2019
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 669 77 0.010 None 1.000 1 2019 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.010 None 1.000 1 2016 2016
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2013 2013
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 766 80 0.010 None 1.000 1 2019 2019