BPGM, bisphosphoglycerate mutase, 669

N. diseases: 10; N. variants: 3
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: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 3 0.700 None 1.000 3 3 1989 2004
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0
CUI: C0235983
Disease: Normochromic anemia
Normochromic anemia 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 9 0.100 None 0
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0032461
Disease: Polycythemia
Polycythemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 82 22 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: C0008350
Disease: Cholelithiasis
Cholelithiasis 		disease Digestive System Diseases Disease or Syndrome 252 90 0.100 None 0
CUI: C4025735
Disease: Nonspherocytic hemolytic anemia
Nonspherocytic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 3 0.100 None 0