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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 1.000 1 2011 2011
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 17 38 0.180 None 1.000 11 38 1994 2015
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 40 29 0.160 None 1.000 6 14 2001 2010
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
disease Digestive System Diseases Disease or Syndrome 252 90 0.140 None 0.800 5 4 2001 2012
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.110 None 1.000 2 2 2004 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.110 None 1.000 2 2 2008 2019
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement
phenotype Laboratory Procedure 56 535 0.100 None 1.000 13 88 2009 2019
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
phenotype Laboratory or Test Result 32 478 0.100 None 1.000 6 79 2009 2013
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 3 2 2012 2018
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 1 2013 2017
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 2 3 2018 2018
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 2 37 2013 2014
CUI: C0028754
Disease: Obesity
Obesity
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2821 1111 0.100 None 1.000 1 1 2015 2015
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 2 2012 2012
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 2 2010 2010
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2013 2013
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 27 0.100 None 0 26
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding)
phenotype Pathological Conditions, Signs and Symptoms Finding 14 8 0.100 None 0 5
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
phenotype Finding 9 3 0.100 None 0 3
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice
phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding 59 14 0.100 None 0 1
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised
phenotype Finding 67 6 0.100 None 0 1
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 9 4 0.100 None 0 4
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 17 1 0.100 None 0 1