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: C0024286
Disease: Lymphogranuloma Venereum
Lymphogranuloma Venereum 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 4 0.010 None 1.000 1 2010 2010
CUI: C1868889
Disease: Irritable bowel syndrome characterized by constipation
Irritable bowel syndrome characterized by constipation 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C4054044
Disease: Secondary haemophagocytic lymphohistiocytosis
Secondary haemophagocytic lymphohistiocytosis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C0344191
Disease: Cerebellar decompression injury
Cerebellar decompression injury 		disease Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2017 2017
CUI: C1504412
Disease: Testotoxicosis
Testotoxicosis 		disease Endocrine System Diseases Disease or Syndrome 14 10 0.010 None 1.000 1 1991 1991
CUI: C0016063
Disease: Osteitis Fibrosa Disseminata
Osteitis Fibrosa Disseminata 		disease Musculoskeletal Diseases Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C2316787
Disease: Chronic kidney disease stage 3
Chronic kidney disease stage 3 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 25 1 0.010 None 1.000 1 2017 2017
CUI: C0003869
Disease: Arthritis, Infectious
Arthritis, Infectious 		group Infections; Musculoskeletal Diseases Disease or Syndrome 33 0.010 None 1.000 1 2008 2008
CUI: C0856747
Disease: Aneurysm of ascending aorta
Aneurysm of ascending aorta 		phenotype Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 34 16 0.010 None 1.000 1 2019 2019
CUI: C1692886
Disease: Arthritis, Bacterial
Arthritis, Bacterial 		group Infections; Musculoskeletal Diseases Disease or Syndrome 34 0.010 None 1.000 1 2008 2008
CUI: C0025048
Disease: Meconium Aspiration Syndrome
Meconium Aspiration Syndrome 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Respiratory Tract Diseases Disease or Syndrome 38 1 0.010 None 1.000 1 2017 2017
CUI: C0242292
Disease: McCune-Albright Syndrome
McCune-Albright Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 45 10 0.050 None 1.000 5 2002 2019
CUI: C0087086
Disease: Thrombus
Thrombus 		phenotype Cardiovascular Diseases Pathologic Function 46 0.300 None 1.000 1 2015 2015
CUI: C3845502
Disease: Myocardial infarction, stroke
Myocardial infarction, stroke 		disease Disease or Syndrome 46 3 0.010 None 1.000 1 2019 2019
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 74 0.010 None 1.000 1 2004 2004
CUI: C0259779
Disease: Fibrous Dysplasia
Fibrous Dysplasia 		disease Congenital Abnormality 53 5 0.010 None 1.000 1 2019 2019
CUI: C1096155
Disease: Macrophage Activation Syndrome
Macrophage Activation Syndrome 		disease Immune System Diseases Disease or Syndrome 57 6 0.020 None 1.000 2 2017 2018
CUI: C1260873
Disease: Aortic valve disorder
Aortic valve disorder 		disease Cardiovascular Diseases Disease or Syndrome 58 0.010 None 1.000 1 2011 2011
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 63 10 0.010 None 1.000 1 2010 2010
CUI: C0014522
Disease: Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis 		disease Infections; Skin and Connective Tissue Diseases Neoplastic Process 64 9 0.010 None 1.000 1 2020 2020
CUI: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant 		disease Infections Disease or Syndrome 67 8 0.040 None 1.000 4 2012 2016
CUI: C0033575
Disease: Prostatic Diseases
Prostatic Diseases 		group Male Urogenital Diseases Disease or Syndrome 72 4 0.010 None 1.000 1 2018 2018
CUI: C0574785
Disease: Lower Urinary Tract Symptoms
Lower Urinary Tract Symptoms 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 77 30 0.010 None 1.000 1 2018 2018
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 78 8 0.020 None 1.000 2 2019 2019
CUI: C0406810
Disease: Carney Complex
Carney Complex 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 82 27 0.010 None 1.000 1 2002 2002