DGUOK, deoxyguanosine kinase, 1716

N. diseases: 112; N. variants: 19
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.
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
disease Disease or Syndrome 1 12 0.700 None 1.000 7 12 1997 2016
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
disease Disease or Syndrome 1 2 0.400 None 1.000 2 2 2002 2015
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 4
disease Disease or Syndrome 1 7 0.700 strong 1.000 1 7 2012 2012
Depletion of mitochondrial DNA in liver
phenotype Finding 1 0.100 None 0
Viral infection-induced rhabdomyolysis
disease Musculoskeletal Diseases Disease or Syndrome 1 0.100 None 0
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC
disease Disease or Syndrome 2 2 0.700 None 1.000 3 2 2005 2016
CUI: C0220993
Disease: Cystathioninuria
Cystathioninuria
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 2 4 0.010 None 1.000 1 1 2005 2005
CUI: C3711385
Disease: Deoxyguanosine Kinase Deficiency
Deoxyguanosine Kinase Deficiency
disease Nutritional and Metabolic Diseases Disease or Syndrome 4 1 0.530 None 1.000 5 2005 2018
CUI: C1328348
Disease: Mitochondrial hepatopathy
Mitochondrial hepatopathy
disease Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
CUI: C0010398
Disease: Cruveilhier-Baumgarten Syndrome
Cruveilhier-Baumgarten Syndrome
disease Digestive System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C1849766
Disease: Periportal fibrosis
Periportal fibrosis
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 4 1 0.100 None 0
CUI: C0268616
Disease: Gamma-cystathionase deficiency
Gamma-cystathionase deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 1 2005 2005
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
phenotype Finding 7 5 0.100 None 0
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
disease Disease or Syndrome 8 1 0.100 None 0
Adult onset sensorineural hearing impairment
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 8 2 0.100 None 0
CUI: C0240595
Disease: Rotary Nystagmus
Rotary Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 9 3 0.010 None 1.000 1 2017 2017
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
phenotype Finding 11 0.100 None 0
CUI: C0004093
Disease: Asthenia
Asthenia
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 16 3 0.100 None 0
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 16 2 0.100 None 0
CUI: C0267812
Disease: Micronodular cirrhosis
Micronodular cirrhosis
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 18 0.100 None 0
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 28 128 0.010 None 1.000 1 2007 2007
Decreased activity of mitochondrial respiratory chain
phenotype Finding 34 0.100 None 0
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 36 7 0.100 None 1.000 16 2002 2017
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis
phenotype Disease or Syndrome 41 0.100 None 0