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: C2931835
Disease: Hyperprolinemia type 2
Hyperprolinemia type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 3 5 0.730 moderate 1.000 8 5 1960 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.400 strong 1.000 1 2016 2016
CUI: C0032927
Disease: Precancerous Conditions
Precancerous Conditions 		group Neoplasms Neoplastic Process 471 18 0.300 None 1.000 1 2012 2012
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		disease Digestive System Diseases Disease or Syndrome 434 17 0.300 None 1.000 1 2018 2018
CUI: C0282313
Disease: Condition, Preneoplastic
Condition, Preneoplastic 		disease Neoplasms Neoplastic Process 122 0.300 None 1.000 1 2012 2012
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.300 None 1.000 1 2018 2018
CUI: C0268528
Disease: Hyperprolinemia
Hyperprolinemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.110 None 1.000 1 1 2012 2012
CUI: C0948585
Disease: Hydroxyprolinuria
Hydroxyprolinuria 		phenotype Finding 8 0.100 None 0
CUI: C0543541
Disease: HYPERGLYCINURIA (disorder)
HYPERGLYCINURIA (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 14 3 0.100 None 0
CUI: C0268534
Disease: Prolinuria
Prolinuria 		disease Disease or Syndrome 6 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		disease Disease or Syndrome 741 81 0.010 None 1.000 1 2018 2018