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: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2013 2013
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
disease Male Urogenital Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2019 2019
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 36 1.000 None 0.976 42 35 2004 2019
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.130 None 1.000 5 3 2009 2019
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.430 strong 1.000 4 1 2012 2017
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis
disease Cardiovascular Diseases Disease or Syndrome 230 93 0.020 None 1.000 2 1 2008 2009
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2019 2019
Diabetes Mellitus, Non-Insulin-Dependent
disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.010 None 1.000 1 2019 2019
CUI: C0014121
Disease: Bacterial Endocarditis
Bacterial Endocarditis
disease Infections; Cardiovascular Diseases Disease or Syndrome 68 9 0.010 None 1.000 1 2013 2013
CUI: C0026847
Disease: Spinal Muscular Atrophy
Spinal Muscular Atrophy
disease Nervous System Diseases Disease or Syndrome 320 33 0.010 None < 0.001 1 1997 1997
CUI: C0521694
Disease: Atrophic retina
Atrophic retina
disease Eye Diseases Disease or Syndrome 24 2 0.010 None 1.000 1 2017 2017
CUI: C1541923
Disease: Infective endocarditis
Infective endocarditis
disease Cardiovascular Diseases Disease or Syndrome 62 9 0.010 None 1.000 1 2013 2013
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 0.010 None 1.000 1 2017 2017
Butterfly-shaped pigmentary macular dystrophy
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
CUI: C4024779
Disease: Marginal corneal dystrophy
Marginal corneal dystrophy
disease Disease or Syndrome 1 0.100 None 0
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy
disease Eye Diseases Disease or Syndrome 24 4 0.100 None 0
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 57 1 0.100 None 0
CUI: C0271197
Disease: Scotoma, Paracentral
Scotoma, Paracentral
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 2 0.100 None 0
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype Eye Diseases Finding 87 3 0.100 None 0
Low density lipoprotein cholesterol measurement
phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 1 2017 2017
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2005 2018