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: C0032580
Disease: Adenomatous Polyposis Coli
Adenomatous Polyposis Coli
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 609 237 0.010 None 1.000 1 2008 2008
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: C0005283
Disease: beta Thalassemia
beta Thalassemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.010 None 1.000 1 2009 2009
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.020 None 1.000 2 2010 2010
CUI: C0489786
Disease: Height
Height
phenotype Organism Attribute 249 517 0.100 None 1.000 1 2 2010 2010
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.010 None 1.000 1 2010 2010
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
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: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.300 None 1.000 1 2011 2011
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
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 33 15 0.030 None 1.000 3 3 2012 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.010 None 1.000 1 1 2012 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2 2012 2012
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 2 2012 2012
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 2 1 2013 2017
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 2 37 2013 2014
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
Differentiated Thyroid Gland Carcinoma
disease Neoplastic Process 245 80 0.010 None 1.000 1 2014 2014
Primary differentiated carcinoma of thyroid gland
disease Neoplastic Process 167 41 0.010 None 1.000 1 2014 2014
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.010 None 1.000 1 2014 2014
CUI: C0027947
Disease: Neutropenia
Neutropenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 389 97 0.020 None 1.000 2 2 2015 2015
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.020 None 1.000 2 2 2015 2015
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2015 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2 2015 2015