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
CUI: C4310735
Disease: PORTAL HYPERTENSION, NONCIRRHOTIC
PORTAL HYPERTENSION, NONCIRRHOTIC
disease Disease or Syndrome 2 2 0.700 None 1.000 3 2 2005 2016
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
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: C0020541
Disease: Portal Hypertension
Portal Hypertension
disease Digestive System Diseases Disease or Syndrome 167 9 0.430 None 1.000 3 2016 2019
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
disease Disease or Syndrome 1 2 0.400 None 1.000 2 2 2002 2015
CUI: C0008370
Disease: Cholestasis
Cholestasis
disease Digestive System Diseases Disease or Syndrome 420 15 0.310 strong 1.000 2 2007 2014
CUI: C0010398
Disease: Cruveilhier-Baumgarten Syndrome
Cruveilhier-Baumgarten Syndrome
disease Digestive System Diseases Disease or Syndrome 4 0.300 None 0
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease Digestive System Diseases Disease or Syndrome 293 20 0.170 None 1.000 7 2002 2018
CUI: C0022346
Disease: Icterus
Icterus
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 241 17 0.110 None 1.000 1 1 2019 2019
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10 0.110 None 1.000 1 2019 2019
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.110 None 1.000 1 2002 2002
Chronic progressive external ophthalmoplegia
disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 50 13 0.110 None 1.000 1 2003 2003
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: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C0497327
Disease: Dementia
Dementia
disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 1630 348 0.100 None 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 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
Creatine phosphokinase serum increased
phenotype Finding 228 43 0.100 None 0
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 107 9 0.100 None 0
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 454 44 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0