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: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.010 None 1.000 1 2017 2017
CUI: C0042900
Disease: Vitiligo
Vitiligo 		disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.010 None 1.000 1 2017 2017
CUI: C1263722
Disease: Chronic metabolic disorder
Chronic metabolic disorder 		group Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.010 None 1.000 1 2014 2014
CUI: C0087169
Disease: Withdrawal Symptoms
Withdrawal Symptoms 		phenotype Chemically-Induced Disorders; Mental Disorders Sign or Symptom 126 10 0.010 None 1.000 1 2019 2019
CUI: C0149651
Disease: Clubbing
Clubbing 		phenotype Sign or Symptom 32 1 0.010 None 1.000 1 2018 2018
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.010 None 1.000 1 2010 2010
CUI: C1257958
Disease: Glucose Metabolism Disorders
Glucose Metabolism Disorders 		group Nutritional and Metabolic Diseases Disease or Syndrome 32 0.010 None 1.000 1 2017 2017
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 403 96 0.010 None 1.000 1 2013 2013
CUI: C0151526
Disease: Premature Birth
Premature Birth 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 192 50 0.010 None 1.000 1 2007 2007
CUI: C0151798
Disease: Hepatic necrosis
Hepatic necrosis 		phenotype Digestive System Diseases Disease or Syndrome 44 0.010 None 1.000 1 2018 2018
CUI: C1136033
Disease: Cutaneous Mastocytosis
Cutaneous Mastocytosis 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 127 18 0.010 None 1.000 1 2017 2017
CUI: C1096063
Disease: Drug Resistant Epilepsy
Drug Resistant Epilepsy 		disease Nervous System Diseases Disease or Syndrome 184 35 0.010 None 1.000 1 2017 2017
CUI: C1266050
Disease: Poorly Differentiated Thyroid Carcinoma
Poorly Differentiated Thyroid Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 54 2 0.010 None 1.000 1 2019 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2019 2019
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.010 None 1.000 1 2016 2016
CUI: C0043194
Disease: Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 95 34 0.010 None 1.000 1 2017 2017
CUI: C2062441
Disease: Influenza A
Influenza A 		disease Disease or Syndrome 563 19 0.010 None 1.000 1 2019 2019
CUI: C1275684
Disease: Meibomian gland dysfunction
Meibomian gland dysfunction 		disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
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 2019 2019
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2008 2008
CUI: C0085311
Disease: Diffuse cutaneous leishmaniasis
Diffuse cutaneous leishmaniasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 22 0.010 None 1.000 1 2019 2019
CUI: C0085409
Disease: Polyendocrinopathies, Autoimmune
Polyendocrinopathies, Autoimmune 		group Immune System Diseases; Endocrine System Diseases Disease or Syndrome 166 21 0.010 None 1.000 1 2017 2017
CUI: C1274700
Disease: Postmenopausal frontal fibrosing alopecia
Postmenopausal frontal fibrosing alopecia 		disease Disease or Syndrome 11 14 0.010 None 1.000 1 2019 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.010 None 1.000 1 2016 2016
CUI: C0085681
Disease: Hyperphosphatemia (disorder)
Hyperphosphatemia (disorder) 		disease Nutritional and Metabolic Diseases Disease or Syndrome 65 1 0.010 None 1.000 1 2018 2018