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: C0696098
Disease: Blood thyroid stimulating hormone analysis
Blood thyroid stimulating hormone analysis 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2014 2014
CUI: C0080203
Disease: Tachyarrhythmia
Tachyarrhythmia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 18 0.300 None 1.000 1 2011 2011
CUI: C1854919
Disease: Severe psychomotor retardation
Severe psychomotor retardation 		phenotype Mental or Behavioral Dysfunction 22 3 0.010 None 1.000 1 2009 2009
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		disease Eye Diseases Disease or Syndrome 30 15 0.010 None 1.000 1 2013 2013
CUI: C0020578
Disease: Hyperventilation
Hyperventilation 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Finding 31 2 0.300 None 1.000 1 2011 2011
CUI: C0877445
Disease: Candidemia
Candidemia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 40 11 0.010 None 1.000 1 2016 2016
CUI: C0202230
Disease: Thyroid stimulating hormone measurement
Thyroid stimulating hormone measurement 		phenotype Laboratory Procedure 42 83 0.100 None 1.000 1 1 2014 2014
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 2013 2013
CUI: C0039231
Disease: Tachycardia
Tachycardia 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.300 None 1.000 1 2011 2011
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		disease Finding 82 141 0.100 None 1.000 1 1 2019 2019
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		disease Disease or Syndrome 82 142 0.100 None 1.000 1 1 2019 2019
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		disease Disease or Syndrome 82 132 0.100 None 1.000 1 1 2019 2019
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature 		disease Acquired Abnormality 84 0.010 None 1.000 1 2017 2017
CUI: C1997217
Disease: Low grade glioma
Low grade glioma 		disease Neoplasms Neoplastic Process 85 10 0.010 None 1.000 1 2008 2008
CUI: C0152136
Disease: Low Tension Glaucoma
Low Tension Glaucoma 		disease Eye Diseases Disease or Syndrome 103 56 0.010 None 1.000 1 2013 2013
CUI: C0018621
Disease: Hay fever
Hay fever 		disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 114 42 0.100 None 1.000 1 1 2014 2014
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		disease Musculoskeletal Diseases Disease or Syndrome 134 58 0.010 None 1.000 1 1 2016 2016
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 161 76 0.100 None 1.000 1 1 2015 2015
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		group Endocrine System Diseases Disease or Syndrome 230 26 0.010 None 1.000 1 2012 2012
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.100 None 1.000 1 1 2017 2017
CUI: C0595921
Disease: Intraocular pressure disorder
Intraocular pressure disorder 		disease Eye Diseases Disease or Syndrome 304 56 0.010 None 1.000 1 2010 2010
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		disease Endocrine System Diseases Disease or Syndrome 335 131 0.110 None 1.000 1 1 2015 2015
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		disease Eye Diseases Disease or Syndrome 383 222 0.020 None 1.000 2 3 2010 2013
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2008 2008
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 456 130 0.410 None 1.000 2 1 2014 2017