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.
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: 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: C0015397
Disease: Disorder of eye
Disorder of eye
group Eye Diseases Disease or Syndrome 400 14 0.300 None 0
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: C0042487
Disease: Venous Thrombosis
Venous Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 117 218 0.110 None 1.000 2 1 2008 2012
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: 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: C1839364
Disease: Progressive visual loss
Progressive visual loss
phenotype Finding 77 11 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
CUI: C4024779
Disease: Marginal corneal dystrophy
Marginal corneal dystrophy
disease Disease or Syndrome 1 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C4048273
Disease: Chorioretinal atrophy
Chorioretinal atrophy
disease Eye Diseases Disease or Syndrome 24 4 0.100 None 0
Abnormality of blood and blood-forming tissues
disease Finding 23 1 0.100 None 0
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
phenotype Eye Diseases Pathologic Function 125 2 0.100 None 0
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: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.020 None 1.000 2 2005 2018
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2020 2020
Butterfly-shaped pigmentary macular dystrophy
disease Disease or Syndrome 7 0.010 None 1.000 1 2017 2017
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1171 66 0.010 None 1.000 1 2020 2020
CUI: C1334170
Disease: Indolent Non-Hodgkin Lymphoma
Indolent Non-Hodgkin Lymphoma
disease Neoplastic Process 27 0.010 None 1.000 1 2020 2020
Amaurosis congenita of Leber, type 1
disease Eye Diseases Disease or Syndrome 81 60 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
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
disease Male Urogenital Diseases Congenital Abnormality 21 5 0.010 None 1.000 1 2019 2019
CUI: C1956130
Disease: Lymphoma, Follicular, Grade 1
Lymphoma, Follicular, Grade 1
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 22 0.010 None 1.000 1 2020 2020