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: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.300 strong 1.000 2 1992 1995
CUI: C0018952
Disease: Extramedullary Hematopoiesis Function
Extramedullary Hematopoiesis Function 		phenotype Organ or Tissue Function 16 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay 		phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia 		disease Disease or Syndrome 60 14 0.100 None 0
CUI: C0553720
Disease: Spherocytosis
Spherocytosis 		phenotype Finding 5 0.100 None 0
CUI: C1849478
Disease: Increased red cell osmotic fragility
Increased red cell osmotic fragility 		phenotype Finding 9 0.100 None 0
CUI: C4531297
Disease: Increased mean corpuscular hemoglobin concentration
Increased mean corpuscular hemoglobin concentration 		phenotype Finding 13 0.100 None 0
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 41 30 0.100 None 0
CUI: C2675192
Disease: Spherocytosis, Type 5
Spherocytosis, Type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 9 0.700 strong 1.000 6 9 1992 1999
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.330 None 1.000 4 2002 2019
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 0.300 strong 1.000 2 1992 1995
CUI: C0472762
Disease: Alpha trait thalassemia
Alpha trait thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2009 2009
CUI: C2674218
Disease: SPHEROCYTOSIS, TYPE 1 (disorder)
SPHEROCYTOSIS, TYPE 1 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 16 0.200 None 1.000 1 1999 1999
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.100 None 0
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.100 None 0
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.100 None 0
CUI: C4025184
Disease: Spontaneous hemolytic crises
Spontaneous hemolytic crises 		disease Hemic and Lymphatic Diseases Disease or Syndrome 7 0.100 None 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 302 18 0.100 None 0
CUI: C0015967
Disease: Fever
Fever 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.100 None 0
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.100 None 0
CUI: C0030232
Disease: Pallor
Pallor 		phenotype Pathological Conditions, Signs and Symptoms Finding 124 4 0.100 None 0