ADK, adenosine kinase, 132

N. diseases: 102; N. variants: 12
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.
HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY
disease Disease or Syndrome 1 3 0.700 None 1.000 2 3 2011 2016
Phosphoribosylpyrophosphate Synthetase Superactivity
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 6 7 0.010 None 1.000 1 2014 2014
CUI: C1971021
Disease: Potassium depletion
Potassium depletion
disease Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C2349595
Disease: Fetal anemia
Fetal anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Hemic and Lymphatic Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C0576227
Disease: Narrow foot
Narrow foot
phenotype Musculoskeletal Diseases Finding 6 1 0.100 None 0
CUI: C4022737
Disease: Neurodevelopmental abnormality
Neurodevelopmental abnormality
phenotype Pathologic Function 7 19 0.100 None 0 1
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion
disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2019 2019
Morphological abnormality of the central nervous system
group Anatomical Abnormality 10 7 0.100 None 0 1
Combined molybdoflavoprotein enzyme deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.010 None 1.000 1 2014 2014
CUI: C1853230
Disease: Aphakia, congenital primary
Aphakia, congenital primary
disease Eye Diseases Congenital Abnormality 14 7 0.010 None 1.000 1 2017 2017
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis
phenotype Digestive System Diseases Disease or Syndrome 15 0.100 None 0
Hepatic methionine adenosyltransferase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 15 0.020 None 1.000 2 1 2011 2019
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 16 3 0.120 None 1.000 2 1 2011 2019
CUI: C2930868
Disease: Rasmussen subacute encephalitis
Rasmussen subacute encephalitis
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 1 0.020 None 1.000 2 2017 2020
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 2014 2014
CUI: C0393484
Disease: Rasmussen Syndrome
Rasmussen Syndrome
disease Nervous System Diseases Disease or Syndrome 18 3 0.020 None 1.000 2 2017 2020
Severe combined immunodeficiency due to adenosine deaminase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 15 0.010 None 1.000 1 2014 2014
CUI: C0003129
Disease: Anoxemia
Anoxemia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 None 1.000 1 2009 2009
CUI: C0010403
Disease: Cryoglobulinemia
Cryoglobulinemia
disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 37 7 0.010 None 1.000 1 2015 2015
CUI: C0748607
Disease: Recurrent seizure
Recurrent seizure
disease Nervous System Diseases Disease or Syndrome 44 1 0.010 None 1.000 1 2011 2011
CUI: C0205646
Disease: Adenoma, Basal Cell
Adenoma, Basal Cell
disease Neoplasms Neoplastic Process 49 0.010 None 1.000 1 2014 2014
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
phenotype Pathological Conditions, Signs and Symptoms Finding 52 7 0.300 None 1.000 1 2009 2009
CUI: C0242184
Disease: Hypoxia
Hypoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 59 0.300 None 1.000 1 2009 2009
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0
CUI: C0206685
Disease: Acinar Cell Carcinoma
Acinar Cell Carcinoma
disease Neoplasms Neoplastic Process 65 0.010 None 1.000 1 2014 2014