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.
CUI: C0008325
Disease: Cholecystitis
Cholecystitis 		disease Digestive System Diseases Disease or Syndrome 55 3 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
CUI: C0022346
Disease: Icterus
Icterus 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 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
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: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C1291611
Disease: Deficiency of glucose-6-phosphate isomerase
Deficiency of glucose-6-phosphate isomerase 		disease Disease or Syndrome 2 0.100 None 0
CUI: C4016321
Disease: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY 		disease Finding 1 2 0.100 None 0 2
CUI: C4023090
Disease: Impaired neutrophil bactericidal activity
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: C0002889
Disease: Anemia, Microangiopathic
Anemia, Microangiopathic 		disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1996 1996
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2008 2008
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2008 2008
CUI: C0221021
Disease: Microangiopathic hemolytic anemia
Microangiopathic hemolytic anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 31 0.300 None 1.000 1 1996 1996
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 1996 1996
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		disease Neoplasms Neoplastic Process 2438 563 0.200 None 1.000 1 2016 2016
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders 		group Nervous System Diseases Disease or Syndrome 167 37 0.010 None 1.000 1 2017 2017
CUI: C0751254
Disease: Creutzfeldt-Jakob Disease, Familial
Creutzfeldt-Jakob Disease, Familial 		disease Infections; Nervous System Diseases; Mental Disorders Disease or Syndrome 22 16 0.010 None 1.000 1 2 2008 2008
CUI: C0398561
Disease: Glucose phosphate isomerase deficiency
Glucose phosphate isomerase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2 2012 2012
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		disease Digestive System Diseases Disease or Syndrome 1058 222 0.010 None 1.000 1 2019 2019
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia 		disease Male Urogenital Diseases Disease or Syndrome 164 17 0.010 None 1.000 1 2019 2019
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms 		group Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 827 60 0.010 None 1.000 1 2016 2016
CUI: C0393626
Disease: Opsoclonus-Myoclonus Syndrome
Opsoclonus-Myoclonus Syndrome 		disease Neoplasms; Eye Diseases; Nervous System Diseases Disease or Syndrome 14 0.010 None 1.000 1 2006 2006