GPI, glucose-6-phosphate isomerase, 2821

N. diseases: 218; N. variants: 33
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.
Impaired neutrophil bactericidal activity
phenotype Finding 2 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: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
disease Finding 1 2 0.100 None 0 2
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
Deficiency of glucose-6-phosphate isomerase
disease Disease or Syndrome 2 0.100 None 0
CUI: C0008325
Disease: Cholecystitis
Cholecystitis
disease Digestive System Diseases Disease or Syndrome 55 3 0.100 None 0
CUI: C3278865
Disease: Pigment gallstones
Pigment gallstones
phenotype Digestive System Diseases Finding 2 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C0240991
Disease: Ataxia, Sensory
Ataxia, Sensory
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 35 1 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: 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 0.010 None 1.000 1 1979 1979
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 1987 1987
Deficiency of glucose-6-phosphate dehydrogenase
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 75 20 0.010 None 1.000 1 1987 1987
CUI: C0001849
Disease: AIDS Dementia Complex
AIDS Dementia Complex
disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4 0.010 None 1.000 1 1987 1987
CUI: C0002871
Disease: Anemia
Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.010 None 1.000 1 1 1987 1987
Malignant hyperpyrexia due to anesthesia
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 60 52 0.010 None 1.000 1 1990 1990
CUI: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome
group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 1991 1991
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.010 None 1.000 1 1991 1991
Von Willebrand disease, platelet type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 8 2 0.010 None 1.000 1 1991 1991
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.010 None < 0.001 1 1995 1995
CUI: C0235574
Disease: Intravascular hemolysis
Intravascular hemolysis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 36 0.010 None 1.000 1 1996 1996
CUI: C1387532
Disease: Chronic hemolytic anemia
Chronic hemolytic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 15 5 0.010 None 1.000 1 1996 1996
CUI: C0520463
Disease: Chronic active hepatitis
Chronic active hepatitis
disease Digestive System Diseases Disease or Syndrome 122 34 0.010 None 1.000 1 1996 1996