ADK, adenosine kinase, 132

N. diseases: 78; N. variants: 7
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 3 3 2011 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.500 strong 1 2012 2012
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 314 5 0.400 strong 0
CUI: C0003130
Disease: Anoxia
Anoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 287 0.310 2 2008 2015
CUI: C1112213
Disease: Cholestasis in newborn
Cholestasis in newborn
disease Disease or Syndrome 91 2 0.300 moderate 3 2011 2016
CUI: C0003129
Disease: Anoxemia
Anoxemia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 33 0.300 1 2015 2015
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.300 1 2012 2012
CUI: C0242184
Disease: Hypoxia
Hypoxia
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 33 0.300 1 2015 2015
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 1 2012 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.300 1.000 1 2012 2012
CUI: C0700292
Disease: Hypoxemia
Hypoxemia
phenotype Pathological Conditions, Signs and Symptoms Finding 36 0.300 1 2015 2015
CUI: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 1 2012 2012
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
disease Nervous System Diseases Disease or Syndrome 180 11 0.210 1.000 2 2011 2012
CUI: C0751955
Disease: Brain Infarction
Brain Infarction
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 60 6 0.200 1 1998 1998
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic
disease Digestive System Diseases; Substance-Related Disorders Disease or Syndrome 59 2 0.200 1 2002 2002
CUI: C0015695
Disease: Fatty Liver
Fatty Liver
disease Digestive System Diseases Disease or Syndrome 442 24 0.200 1 2002 2002
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1176 147 0.150 1.000 5 2008 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 1173 165 0.150 1.000 5 1 2008 2015
CUI: C4048705
Disease: Hypermethioninemia
Hypermethioninemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 12 2 0.110 1.000 1 2011 2011
CUI: C0028877
Disease: Odontogenesis
Odontogenesis
phenotype Organ or Tissue Function 17 37 0.100 1 1 2013 2013
CUI: C0040437
Disease: Tooth eruption
Tooth eruption
phenotype Finding 1 5 0.100 1 1 2011 2011
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 1 1 2015 2015
CUI: C1848701
Disease: Elevated hepatic transaminases
Elevated hepatic transaminases
phenotype Finding 118 2 0.100 0
CUI: C0576227
Disease: Narrow foot
Narrow foot
phenotype Finding 4 0.100 0
CUI: C0877359
Disease: Increased liver function tests
Increased liver function tests
phenotype Finding 117 0.100 0