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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 1.000 2 2018 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		phenotype Laboratory Procedure 264 1463 0.100 None 1.000 1 1 2019 2019
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		disease Neoplastic Process 573 14 0.010 None 1.000 1 2000 2000
CUI: C0332853
Disease: Anastomosis
Anastomosis 		disease Acquired Abnormality 155 2 0.010 None 1.000 1 2019 2019
CUI: C1519678
Disease: Tumor Expansion
Tumor Expansion 		phenotype Neoplastic Process 46 0.010 None 1.000 1 2019 2019
CUI: C3160814
Disease: Cannabis use
Cannabis use 		disease Mental or Behavioral Dysfunction 74 44 0.100 None 1.000 1 2 2019 2019
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		phenotype Finding 7 0.100 None 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0432355
Disease: Hypoplasia of nipple
Hypoplasia of nipple 		disease Congenital Abnormality 33 1 0.100 None 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype Finding 105 10 0.100 None 0
CUI: C1842680
Disease: Small earlobe
Small earlobe 		phenotype Finding 17 1 0.100 None 0
CUI: C4014918
Disease: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2 		disease Disease or Syndrome 1 1 0.400 None 0 1
CUI: C0021704
Disease: Intelligence
Intelligence 		phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 4 7 2017 2019
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2007 2007
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2007 2007
CUI: C0085411
Disease: Angiodysplasia
Angiodysplasia 		disease Cardiovascular Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders 		group Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 16 0.020 None 1.000 2 1998 2004
CUI: C0175755
Disease: Congenital absent nipple
Congenital absent nipple 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 7 0.410 limited 1.000 1 2014 2014
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 254 51 0.010 None 1.000 1 2019 2019
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 280 35 0.020 None 1.000 2 2019 2019
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
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2017 2017
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 472 112 0.020 None 1.000 2 2018 2019
CUI: C0017185
Disease: Gastrointestinal Neoplasms
Gastrointestinal Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 182 3 0.010 None 1.000 1 2019 2019