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.
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
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
disease Disease or Syndrome 1 12 0.700 None 1.000 7 12 1997 2016
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC
disease Disease or Syndrome 2 2 0.700 None 1.000 3 2 2005 2016
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
disease Disease or Syndrome 1 2 0.400 None 1.000 2 2 2002 2015
CUI: C1328348
Disease: Mitochondrial hepatopathy
Mitochondrial hepatopathy
disease Disease or Syndrome 4 0.010 None 1.000 1 2003 2003
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
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 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
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype Finding 23 1 0.100 None 0
CUI: C1845274
Disease: Abnormal conjugate eye movement
Abnormal conjugate eye movement
phenotype Finding 7 5 0.100 None 0
CUI: C1847868
Disease: Generalized aminoaciduria
Generalized aminoaciduria
phenotype Finding 11 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase
phenotype Finding 212 9 0.100 None 0
CUI: C1855038
Disease: Hepatocellular necrosis
Hepatocellular necrosis
phenotype Disease or Syndrome 41 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy
phenotype Finding 305 22 0.100 None 0
CUI: C3275417
Disease: Ragged-red muscle fibers
Ragged-red muscle fibers
phenotype Finding 59 1 0.100 None 0
Decreased activity of mitochondrial respiratory chain
phenotype Finding 34 0.100 None 0
Depletion of mitochondrial DNA in liver
phenotype Finding 1 0.100 None 0
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy
disease Disease or Syndrome 271 13 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0
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: 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