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: C0206731
Disease: Angiofibroma
Angiofibroma
disease Neoplasms Neoplastic Process 45 1 0.010 None 1.000 1 2001 2001
CUI: C0243026
Disease: Sepsis
Sepsis
disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 2012 2012
CUI: C0243066
Disease: Atresia
Atresia
disease Congenital Abnormality 44 1 0.010 None 1.000 1 2019 2019
Degeneration of lumbar intervertebral disc
disease Musculoskeletal Diseases Disease or Syndrome 50 6 0.010 None 1.000 1 2019 2019
CUI: C0267941
Disease: Pancreatitis, Acute Necrotizing
Pancreatitis, Acute Necrotizing
disease Digestive System Diseases Disease or Syndrome 62 1 0.010 None 1.000 1 2002 2002
CUI: C0267952
Disease: Fibrosis of pancreas
Fibrosis of pancreas
disease Digestive System Diseases Disease or Syndrome 72 0.010 None 1.000 1 2011 2011
CUI: C0268009
Disease: Hyperosmolality
Hyperosmolality
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 10 0.010 None 1.000 1 1999 1999
CUI: C0268732
Disease: Nephritic syndrome
Nephritic syndrome
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
Choroidal retinal neovascularization
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 14 1 0.010 None < 0.001 1 2019 2019
CUI: C0271160
Disease: Cortical cataract
Cortical cataract
disease Eye Diseases Disease or Syndrome 69 15 0.010 None 1.000 1 2015 2015
CUI: C0242852
Disease: Proliferative vitreoretinopathy
Proliferative vitreoretinopathy
disease Eye Diseases Disease or Syndrome 142 14 0.010 None 1.000 1 2011 2011
CUI: C0241868
Disease: acute aortic dissection
acute aortic dissection
disease Cardiovascular Diseases Disease or Syndrome 63 0.010 None 1.000 1 2019 2019
CUI: C0220597
Disease: Adult Hodgkin Lymphoma
Adult Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 27 0.010 None 1.000 1 2010 2010
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None 1.000 1 2018 2018
CUI: C0220644
Disease: Childhood Hodgkin Lymphoma
Childhood Hodgkin Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 399 29 0.010 None 1.000 1 2010 2010
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 218 31 0.010 None 1.000 1 2018 2018
CUI: C0221259
Disease: Trichiasis
Trichiasis
disease Eye Diseases Disease or Syndrome 12 1 0.010 None 1.000 1 2016 2016
CUI: C0221271
Disease: Elastosis perforans serpiginosa
Elastosis perforans serpiginosa
disease Skin and Connective Tissue Diseases Disease or Syndrome 66 4 0.010 None 1.000 1 2014 2014
CUI: C0233794
Disease: Memory impairment
Memory impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.010 None 1.000 1 2017 2017
CUI: C0235259
Disease: Subcapsular cataract
Subcapsular cataract
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality 17 1 0.010 None 1.000 1 2000 2000
CUI: C0238067
Disease: Colitis, Collagenous
Colitis, Collagenous
disease Digestive System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2010 2010
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.010 None 1.000 1 2019 2019
CUI: C0276623
Disease: Chronic viral hepatitis
Chronic viral hepatitis
disease Digestive System Diseases Disease or Syndrome 59 8 0.010 None 1.000 1 2005 2005
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma
disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2019 2019
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1881 283 0.010 None 1.000 1 2019 2019