AMPD3, adenosine monophosphate deaminase 3, 272

N. diseases: 40; N. variants: 26
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.
Erythrocyte Amp Deaminase Deficiency
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1 8 0.600 None 1.000 4 8 1994 2001
CUI: C0268123
Disease: Muscle AMP deaminase deficiency
Muscle AMP deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 0.300 None 1.000 2 1994 2001
Adenosine monophosphate deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 0.300 None 1.000 2 1994 2001
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 5 4 2011 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
phenotype Clinical Attribute 507 1037 0.100 None 1.000 3 2 2011 2017
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
phenotype Laboratory Procedure 283 679 0.100 None 1.000 2 1 2010 2013
High density lipoprotein measurement
phenotype Laboratory Procedure 545 1440 0.100 None 1.000 2 1 2010 2013
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
phenotype Organism Attribute 565 1138 0.100 None 1.000 2 2 2019 2019
CUI: C0424678
Disease: Lean body mass
Lean body mass
phenotype Clinical Attribute 144 211 0.100 None 1.000 1 1 2019 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders
group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.100 None 1.000 1 1 2010 2010
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 41 69 0.100 None 1.000 1 1 2016 2016
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
phenotype Laboratory Procedure 433 3282 0.100 None 1.000 1 1 2013 2013
Corpuscular Hemoglobin Concentration Mean
phenotype Laboratory or Test Result 401 4389 0.100 None 1.000 1 2 2012 2012
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 1 1 2010 2010
Diastolic blood pressure measurement
phenotype Diagnostic Procedure 35 81 0.100 None 1.000 1 1 2011 2011
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement
phenotype Diagnostic Procedure 54 95 0.100 None 1.000 1 1 2011 2011
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
phenotype Laboratory Procedure 486 1243 0.100 None 1.000 1 1 2018 2018
CUI: C0005612
Disease: Birth Weight
Birth Weight
phenotype Pathological Conditions, Signs and Symptoms Organism Attribute 214 369 0.100 None 1.000 1 1 2019 2019
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.100 None 1.000 1 1 2010 2010
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
group Mental Disorders Mental or Behavioral Dysfunction 560 179 0.100 None 1.000 1 1 2010 2010
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 1 1 2019 2019
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
phenotype Organism Function 109 220 0.100 None 1.000 1 2 2011 2011
CUI: C1855580
Disease: Exercise-induced muscle fatigue
Exercise-induced muscle fatigue
phenotype Finding 18 3 0.100 None 0
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 42 3 0.100 None 0