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: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 21 0.100 None 1.000 26 1988 2016
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.100 None 0.944 18 1989 2017
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.100 None 0.938 16 1989 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.080 None 1.000 8 2001 2013
CUI: C0039730
Disease: Thalassemia
Thalassemia 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 136 18 0.070 None 1.000 7 2000 2018
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 198 103 0.050 None 1.000 5 2001 2018
CUI: C3161174
Disease: Hemoglobin H Disease
Hemoglobin H Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 29 0.050 None 0.800 5 1989 2016
CUI: C3841475
Disease: beta^+^ Thalassemia
beta^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44 0.050 None 1.000 5 2001 2018
CUI: C0600327
Disease: Toxic Shock Syndrome
Toxic Shock Syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 61 0.040 None 1.000 4 1995 2019
CUI: C3714602
Disease: Staphylococcal toxic shock syndrome
Staphylococcal toxic shock syndrome 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 28 0.030 None 1.000 3 1995 2018
CUI: C3841459
Disease: Hb H disease
Hb H disease 		disease Disease or Syndrome 10 2 0.030 None 1.000 3 1994 2006
CUI: C0343401
Disease: MRSA - Methicillin resistant Staphylococcus aureus infection
MRSA - Methicillin resistant Staphylococcus aureus infection 		disease Infections Disease or Syndrome 222 1 0.030 None 1.000 3 2006 2014
CUI: C0021400
Disease: Influenza
Influenza 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 858 17 0.020 None 1.000 2 2012 2020
CUI: C0038159
Disease: Staphylococcal Food Poisoning
Staphylococcal Food Poisoning 		disease Infections; Chemically-Induced Disorders Disease or Syndrome 3 0.020 None 1.000 2 2013 2016
CUI: C0878521
Disease: Beta thalassemia trait
Beta thalassemia trait 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 34 5 0.020 None 1.000 2 2010 2012
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 19 0.020 None 1.000 2 1992 2016
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.020 None 1.000 2 2017 2020
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 92 14 0.020 None 1.000 2 2000 2017
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 3 0.020 None 1.000 2 2017 2020
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.020 None 1.000 2 2017 2020
CUI: C0333516
Disease: Tumor necrosis
Tumor necrosis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 350 1 0.010 None 1.000 1 2010 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 2016 2016
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 2000 2000
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2012 2012
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 2005 2005