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: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 1 1 2012 2012
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
QT interval feature (observable entity)
phenotype Clinical Attribute 75 226 0.100 None 1.000 1 1 2014 2014
CUI: C0948201
Disease: Alloimmunisation
Alloimmunisation
disease Disease or Syndrome 65 3 0.010 None 1.000 1 2005 2005
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2001 2001
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure
disease Disease or Syndrome 76 2 0.010 None 1.000 1 2008 2008
CUI: C4534351
Disease: Major psychiatric illness
Major psychiatric illness
disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2018 2018
CUI: C0423776
Disease: Palmar pit
Palmar pit
phenotype Finding 4 0.100 None 0
CUI: C0423820
Disease: Ridged nails
Ridged nails
phenotype Finding 22 0.100 None 0
CUI: C1842774
Disease: Hypermelanotic macule
Hypermelanotic macule
phenotype Finding 59 2 0.100 None 0
CUI: C1844632
Disease: Anal mucosal leukoplakia
Anal mucosal leukoplakia
phenotype Finding 2 0.100 None 0
CUI: C1852301
Disease: Plantar pits
Plantar pits
phenotype Finding 4 0.100 None 0
CUI: C1852311
Disease: Subungual hyperkeratotic fragments
Subungual hyperkeratotic fragments
phenotype Finding 1 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE
phenotype Finding 87 0.100 None 0
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.300 None 1.000 2 2001 2004
CUI: C0021704
Disease: Intelligence
Intelligence
phenotype Behavior and Behavior Mechanisms Mental Process 645 2093 0.100 None 1.000 1 1 2019 2019
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 910 121 0.010 None 1.000 1 2018 2018
CUI: C0018801
Disease: Heart failure
Heart failure
disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.600 None 0.929 14 1 1996 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.800 strong 0.929 14 1 1996 2019
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
group Cardiovascular Diseases Disease or Syndrome 537 45 0.510 None 0.667 3 2009 2015
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.020 None 1.000 2 2007 2020
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 560 635 0.010 None 1.000 1 2001 2001
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure
disease Cardiovascular Diseases Disease or Syndrome 123 5 0.300 None 1.000 1 2009 2009
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided
disease Cardiovascular Diseases Disease or Syndrome 154 0.300 None 1.000 1 2009 2009