POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
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.
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
disease Disease or Syndrome 1 27 0.600 None 1.000 30 27 2001 2016
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease Disease or Syndrome 36 7 0.140 None 1.000 13 2 2008 2017
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease Disease or Syndrome 2 17 0.700 None 1.000 8 15 2003 2016
CUI: C3714796
Disease: Isolated somatotropin deficiency
Isolated somatotropin deficiency
disease Disease or Syndrome 168 27 0.100 None 1.000 3 1 2010 2017
CUI: C3888962
Disease: POLG mutation
POLG mutation
disease Congenital Abnormality 3 7 0.030 None 1.000 3 5 2014 2019
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
phenotype Finding 12 5 0.100 None 1.000 2 1 2010 2011
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
disease Disease or Syndrome 23 2 0.100 None 1.000 2 1 2010 2011
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 1.000 2 1 2010 2011
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype Pathologic Function 306 12 0.100 None 1.000 2 1 2010 2011
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
disease Anatomical Abnormality 83 20 0.020 None 1.000 2 2 2006 2014
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
disease Anatomical Abnormality 13 1 0.100 None 1.000 2 1 2010 2011
Decreased urinary copper concentration
phenotype Finding 1 1 0.100 None 1.000 2 1 2010 2011
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2014 2014
CUI: C0270816
Disease: epilepsy and migraine
epilepsy and migraine
disease Disease or Syndrome 7 1 0.010 None 1.000 1 2006 2006
Nicotinamide adenine dinucleotide coenzyme Q reductase deficiency
disease Disease or Syndrome 51 4 0.010 None 1.000 1 2012 2012
CUI: C0548923
Disease: Burn infection
Burn infection
disease Disease or Syndrome 7 0.010 None 1.000 1 2019 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 5 2007 2007
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia
disease Disease or Syndrome 19 1 0.110 None 1.000 1 2011 2011
MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
disease Disease or Syndrome 4 2 0.300 None 1.000 1 2003 2003
CUI: C1321756
Disease: Achalasia
Achalasia
disease Disease or Syndrome 40 5 0.010 None 1.000 1 2017 2017
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2010 2010
CUI: C1629609
Disease: Age at menopause
Age at menopause
phenotype Finding 129 209 0.100 None 1.000 1 2 2012 2012
CUI: C3888789
Disease: Pancreatic toxicity
Pancreatic toxicity
disease Disease or Syndrome 8 2 0.010 None 1.000 1 2 2018 2018
CUI: C4524077
Disease: Hypertrophic olivary degeneration
Hypertrophic olivary degeneration
disease Disease or Syndrome 2 0.010 None 1.000 1 2013 2013
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2018 2018