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: C0393799
Disease: Miller Fisher Syndrome
Miller Fisher Syndrome 		disease Eye Diseases; Immune System Diseases; Nervous System Diseases Disease or Syndrome 4 0.010 None 1.000 1 2013 2013
CUI: C0341747
Disease: Detrusor and sphincter dyssynergia
Detrusor and sphincter dyssynergia 		disease Disease or Syndrome 12 0.010 None 1.000 1 2018 2018
CUI: C0346396
Disease: Retinoma
Retinoma 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2006 2006
CUI: C1266186
Disease: Retinoblastoma, spontaneously regressed
Retinoblastoma, spontaneously regressed 		disease Neoplasms Neoplastic Process 12 0.010 None 1.000 1 2006 2006
CUI: C1568363
Disease: Tendinosis
Tendinosis 		disease Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 28 0.010 None 1.000 1 2009 2009
CUI: C0017150
Disease: Gastrinoma
Gastrinoma 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 49 0.010 None 1.000 1 2017 2017
CUI: C0282513
Disease: Primary Progressive Aphasia (disorder)
Primary Progressive Aphasia (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 51 11 0.010 None 1.000 1 2019 2019
CUI: C0036349
Disease: Paranoid Schizophrenia
Paranoid Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 53 23 0.010 None 1.000 1 2017 2017
CUI: C0206718
Disease: Ganglioneuroblastoma
Ganglioneuroblastoma 		disease Neoplasms Neoplastic Process 57 0.010 None 1.000 1 2009 2009
CUI: C0549493
Disease: Alveolitis
Alveolitis 		disease Skin and Connective Tissue Diseases; Respiratory Tract Diseases Disease or Syndrome 63 0.010 None 1.000 1 1990 1990
CUI: C0280220
Disease: stage, ovarian epithelial cancer
stage, ovarian epithelial cancer 		disease Neoplastic Process 65 0.010 None 1.000 1 2001 2001
CUI: C1334953
Disease: Neuroblastic tumors
Neuroblastic tumors 		disease Neoplasms Neoplastic Process 73 2 0.010 None 1.000 1 2009 2009
CUI: C1522378
Disease: Leukemia, Large Granular Lymphocytic
Leukemia, Large Granular Lymphocytic 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 78 0.020 None 1.000 2 1990 1991
CUI: C0017075
Disease: Ganglioneuroma
Ganglioneuroma 		disease Neoplasms Neoplastic Process 88 2 0.010 None 1.000 1 2009 2009
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 90 33 0.010 None 1.000 1 2000 2000
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 91 28 0.010 None 1.000 1 2005 2005
CUI: C0206623
Disease: Adenosquamous carcinoma
Adenosquamous carcinoma 		disease Neoplasms Neoplastic Process 101 3 0.010 None 1.000 1 2009 2009
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane 		disease Eye Diseases Acquired Abnormality 102 0.020 None 1.000 2 2002 2008
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar 		disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.010 None 1.000 1 2017 2017
CUI: C4554344
Disease: IgE-mediated food allergy
IgE-mediated food allergy 		disease Immune System Diseases Disease or Syndrome 126 16 0.010 None 1.000 1 2019 2019
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 130 1012 0.010 None 1.000 1 2013 2013
CUI: C0013473
Disease: Eating Disorders
Eating Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 133 42 0.010 None 1.000 1 2005 2005
CUI: C0151825
Disease: Bone pain
Bone pain 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.010 None 1.000 1 2018 2018
CUI: C0008487
Disease: Chordoma
Chordoma 		disease Neoplasms Neoplastic Process 140 3 0.010 None 1.000 1 2007 2007
CUI: C0341858
Disease: Endometriosis of uterus
Endometriosis of uterus 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 154 4 0.010 None 1.000 1 2010 2010