Source: INFERRED

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0028754
Disease: Obesity
Obesity
disease 0.100 None 1.000 2 1 2003 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
disease 0.370 None 1.000 2 1 2008 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype 0.110 None 1.000 2 1 2010 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0268070
Disease: Hypocupremia
Hypocupremia
disease 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease 0.100 None 1.000 2 1 2003 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0240997
Disease: Decreased serum ceruloplasmin
Decreased serum ceruloplasmin
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1846288
Disease: Recurrent hypoglycemia
Recurrent hypoglycemia
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis
disease 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Decreased urinary copper concentration
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
disease 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4025751
Disease: Abnormality of the pancreas
Abnormality of the pancreas
disease 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
disease 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy
phenotype 0.100 None 1.000 2 1 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
group 0.500 None 0.957 1 6 2003 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0005890
Disease: Body Height
Body Height
phenotype 0.100 None 1.000 1 1 2014 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1629609
Disease: Age at menopause
Age at menopause
phenotype 0.100 None 1.000 1 2 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1837256
Disease: Macrovesicular hepatic steatosis
Macrovesicular hepatic steatosis
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1842587
Disease: Sensory axonal neuropathy
Sensory axonal neuropathy
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1842552
Disease: Limb-girdle muscle atrophy
Limb-girdle muscle atrophy
disease 0.100 None 0 1
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular
phenotype 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
disease 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1838681
Disease: Rapidly progressive
Rapidly progressive
phenotype 0.100 None 0 0