SPTA1, spectrin alpha, erythrocytic 1, 6708

N. diseases: 76; N. variants: 71
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: C2678338
Disease: SPHEROCYTOSIS, TYPE 3 (disorder)
SPHEROCYTOSIS, TYPE 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 4 0.800 strong 1.000 10 4 1962 2016
CUI: C0520739
Disease: Hereditary pyropoikilocytosis
Hereditary pyropoikilocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 47 23 0.730 strong 1.000 6 8 1989 2019
CUI: C1851741
Disease: ELLIPTOCYTOSIS 2 (disorder)
ELLIPTOCYTOSIS 2 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 1 16 0.700 strong 1.000 13 16 1989 1996
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 23 1 0.480 None 1.000 9 1999 2019
CUI: C0037889
Disease: Hereditary spherocytosis
Hereditary spherocytosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 53 13 0.320 None 1.000 3 1 2002 2019
CUI: C0221409
Disease: Anemia, hereditary spherocytic hemolytic
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: C0019034
Disease: Hemoglobin SC Disease
Hemoglobin SC Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 7 0.200 None 1.000 5 1978 1995
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 434 138 0.200 None 1.000 5 1978 1995
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 3 1962 1984
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 154 31 0.120 None 1.000 2 2008 2009
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 27 8 0.110 None 1.000 1 4 2018 2018
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.110 None 1.000 1 2014 2014
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 131 27 0.110 None 1.000 1 2019 2019
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 4 27 2009 2018
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		phenotype Laboratory Procedure 593 988 0.100 None 1.000 3 3 2016 2019
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		phenotype Laboratory or Test Result 593 988 0.100 None 1.000 3 3 2016 2019
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		phenotype Finding 653 1206 0.100 None 1.000 2 3 2016 2019
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		phenotype Laboratory or Test Result 269 549 0.100 None 1.000 2 2 2016 2018
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 10 2011 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		phenotype Laboratory Procedure 717 1599 0.100 None 1.000 2 8 2009 2019
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		phenotype Laboratory Procedure 338 456 0.100 None 1.000 1 1 2016 2016
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		phenotype Laboratory Procedure 234 474 0.100 None 1.000 1 4 2016 2016
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		phenotype Laboratory Procedure 10 19 0.100 None 1.000 1 1 2012 2012
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found 		phenotype Finding 12 0.100 None 0
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 161 43 0.100 None 0