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: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1
disease Disease or Syndrome 1 1 0.600 None 1.000 3 1 2010 2018
CUI: C0549523
Disease: Oropharynx (excludes nasopharynx)
Oropharynx (excludes nasopharynx)
disease Disease or Syndrome 94 5 0.020 None 1.000 2 2016 2019
CUI: C0178422
Disease: Cramp in foot
Cramp in foot
phenotype Sign or Symptom 1 0.010 None 1.000 1 2017 2017
CUI: C0272138
Disease: Erythroblastosis
Erythroblastosis
disease Disease or Syndrome 89 0.010 None 1.000 1 2017 2017
CUI: C0549386
Disease: Sensation of warmth
Sensation of warmth
phenotype Sign or Symptom 4 0.010 None 1.000 1 2018 2018
CUI: C0748035
Disease: pruritus chronic
pruritus chronic
disease Disease or Syndrome 5 0.010 None 1.000 1 2018 2018
CUI: C1096717
Disease: Pain during injection
Pain during injection
phenotype Sign or Symptom 3 0.010 None 1.000 1 2010 2010
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2019 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 1 2014 2014
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
disease Neoplastic Process 236 4 0.010 None 1.000 1 2018 2018
CUI: C0011570
Disease: Mental Depression
Mental Depression
disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.010 None 1.000 1 2018 2018
CUI: C0344315
Disease: Depressed mood
Depressed mood
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1461 269 0.010 None 1.000 1 2018 2018
CUI: C0948249
Disease: Femoral artery occlusion
Femoral artery occlusion
disease Cardiovascular Diseases Disease or Syndrome 12 0.020 None 1.000 2 2017 2017
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2006 267 0.010 None 1.000 1 2019 2019
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
disease Cardiovascular Diseases Disease or Syndrome 2044 281 0.010 None 1.000 1 2019 2019
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.010 None 1.000 1 2019 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2019 2019
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon
disease Cardiovascular Diseases Disease or Syndrome 63 1 0.010 None 1.000 1 2018 2018
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 150 18 0.010 None 1.000 1 2017 2017
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
group Cardiovascular Diseases Disease or Syndrome 319 128 0.010 None 1.000 1 2017 2017
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.010 None 1.000 1 2016 2016
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2016 2016
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.020 None 1.000 2 2017 2020
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 0.010 None 1.000 1 1 2018 2018
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.010 None 1.000 1 2018 2018