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: C0008732
Disease: Chylous Ascites
Chylous Ascites 		disease Digestive System Diseases Disease or Syndrome 6 1 0.010 None 1.000 1 2017 2017
CUI: C3554225
Disease: LEPTIN RECEPTOR DEFICIENCY
LEPTIN RECEPTOR DEFICIENCY 		disease Disease or Syndrome 9 3 0.010 None 1.000 1 2014 2014
CUI: C0008733
Disease: Chylothorax
Chylothorax 		disease Respiratory Tract Diseases Disease or Syndrome 23 2 0.010 None 1.000 1 2016 2016
CUI: C0400936
Disease: Autoimmune liver disease
Autoimmune liver disease 		disease Digestive System Diseases; Immune System Diseases Disease or Syndrome 26 3 0.010 None 1.000 1 2017 2017
CUI: C0272401
Disease: Virchow's node (disorder)
Virchow's node (disorder) 		disease Sign or Symptom 30 1 0.010 None 1.000 1 2016 2016
CUI: C0011226
Disease: Hepatitis D Infection
Hepatitis D Infection 		disease Digestive System Diseases; Infections Disease or Syndrome 72 4 0.010 None 1.000 1 2016 2016
CUI: C0242172
Disease: Pelvic Inflammatory Disease
Pelvic Inflammatory Disease 		group Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 74 3 0.010 None 1.000 1 2017 2017
CUI: C0398686
Disease: Primary immune deficiency disorder
Primary immune deficiency disorder 		group Immune System Diseases Disease or Syndrome 93 23 0.010 None 1.000 1 2014 2014
CUI: C0024894
Disease: Mastitis
Mastitis 		disease Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 103 1 0.010 None 1.000 1 2017 2017
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.010 None 1.000 1 2019 2019
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 176 52 0.010 None < 0.001 1 2003 2003
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 1998 1998
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 239 16 0.010 None 1.000 1 2014 2014
CUI: C3642347
Disease: Basal-Like Breast Carcinoma
Basal-Like Breast Carcinoma 		disease Neoplastic Process 245 9 0.010 None 1.000 1 2010 2010
CUI: C0338451
Disease: Frontotemporal dementia
Frontotemporal dementia 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 320 215 0.010 None 1.000 1 1998 1998
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 349 50 0.010 None 1.000 1 2015 2015
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		disease Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Neoplastic Process 456 65 0.010 None 1.000 1 2015 2015
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		disease Neoplasms; Infections Neoplastic Process 488 15 0.020 None 1.000 2 2013 2015
CUI: C2938924
Disease: Oestrogen receptor positive breast cancer
Oestrogen receptor positive breast cancer 		disease Neoplastic Process 510 58 0.010 None 1.000 1 2014 2014
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 596 81 0.010 None 1.000 1 2012 2012
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 2 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.010 None 1.000 1 2018 2018
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		disease Male Urogenital Diseases Disease or Syndrome 770 91 0.010 None 1.000 1 2014 2014
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.010 None 1.000 1 2018 2018