SPTB, spectrin beta, erythrocytic, 6710

N. diseases: 66; N. variants: 34
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: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 0.750 strong 1.000 9 1990 2016
CUI: C2674219
Disease: SPHEROCYTOSIS, HEREDITARY, 2
SPHEROCYTOSIS, HEREDITARY, 2
disease Disease or Syndrome 8 13 0.700 strong 1.000 8 13 1993 2016
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.680 None 1.000 11 3 1990 2020
CUI: C1866810
Disease: ELLIPTOCYTOSIS 3
ELLIPTOCYTOSIS 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 9 0.600 strong 1.000 4 9 1990 1995
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found
phenotype Finding 12 0.400 strong 1.000 2 1993 2016
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.400 None 1.000 1 1 1997 1997
CUI: C0002891
Disease: Anemia, Neonatal
Anemia, Neonatal
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.300 None 1.000 1 1997 1997
CUI: C0002889
Disease: Anemia, Microangiopathic
Anemia, Microangiopathic
disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1997 1997
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired
disease Hemic and Lymphatic Diseases Disease or Syndrome 16 1 0.300 None 1.000 1 1997 1997
Anemia, hereditary spherocytic hemolytic
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 5 0.300 None 1.000 1 2013 2013
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.300 None 1.000 1 1997 1997
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.110 None 1.000 1 1 2016 2016
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.110 None 1.000 1 1 2014 2014
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 4 2016 2019
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 4 2016 2019
CUI: C0162701
Disease: Polysomnography
Polysomnography
phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 1 2012 2012
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 1 2016 2016
CUI: C1295176
Disease: Leptin measurement
Leptin measurement
phenotype Laboratory Procedure 5 9 0.100 None 1.000 1 1 2012 2012
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 1 2016 2016
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: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 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: C0272048
Disease: stomatocytic anemia
stomatocytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 1 0.100 None 0
ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL
disease Finding 1 1 0.100 None 0 1
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.100 None 0