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: C1849265
Disease: Overgrowth
Overgrowth 		phenotype Finding 103 93 0.100 None 1.000 12 1 1992 2017
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		disease Disease or Syndrome 2 1 0.610 None 1.000 5 1 2003 2020
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2008 2012
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine 		disease Disease or Syndrome 7 1 0.310 strong 1.000 2 1 2003 2008
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2011 2011
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2012 2012
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
CUI: C0424139
Disease: Anxiety and fear
Anxiety and fear 		disease Mental or Behavioral Dysfunction 51 0.010 None 1.000 1 2013 2013
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		phenotype Laboratory Procedure 283 679 0.100 None 1.000 1 1 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 1 2012 2012
CUI: C0742038
Disease: Cerebellar signs
Cerebellar signs 		phenotype Sign or Symptom 24 5 0.010 None < 0.001 1 1 2004 2004
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2012 2012
CUI: C2349453
Disease: Familial migraine
Familial migraine 		disease Disease or Syndrome 5 0.010 None 1.000 1 2015 2015
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 0
CUI: C1557375
Disease: Blurred Vision, CTCAE
Blurred Vision, CTCAE 		phenotype Finding 26 0.100 None 0
CUI: C1865332
Disease: Transient unilateral blurring of vision
Transient unilateral blurring of vision 		phenotype Finding 2 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.010 None 1.000 1 2018 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.500 None 1.000 3 2001 2005
CUI: C0521533
Disease: Atrial septal aneurysm
Atrial septal aneurysm 		disease Cardiovascular Diseases Disease or Syndrome 5 1 0.010 None 1.000 1 2018 2018
CUI: C0013170
Disease: Drug habituation
Drug habituation 		phenotype Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 196 19 0.010 None 1.000 1 2011 2011
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 73 14 0.010 None 1.000 1 2018 2018
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 37 10 0.010 None 1.000 1 2018 2018
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
Congenital hypoplasia of adrenal gland 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 45 13 0.020 None 1.000 2 2004 2006