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: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder)
disease 1.000 None 0.992 85 123 2001 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
disease 0.760 strong 1.000 0 10 2003 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
disease 0.700 None 1.000 6 10 2001 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
disease 0.700 None 1.000 3 15 2003 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease 0.620 None 1.000 41 1 2001 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
disease 0.600 None 1.000 17 11 2001 2016
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: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group 0.500 None 0.952 0 0 2004 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Chronic progressive external ophthalmoplegia
disease 0.500 None 0.976 0 0 2002 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
SPINOCEREBELLAR ATAXIA WITH EPILEPSY
disease 0.440 None 1.000 0 2 2005 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.430 None 1.000 76 11 2001 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group 0.420 None 1.000 0 0 2004 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.400 None 1.000 0 0 2010 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease 0.400 None 1.000 0 0 2010 2010
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
Mitochondrial DNA Depletion Syndrome 1
disease 0.400 None 0 7
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: C0004134
Disease: Ataxia
Ataxia
phenotype 0.200 None 0.909 0 0 2004 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.150 None 1.000 0 0 2005 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease 0.150 None 1.000 0 0 2009 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA
disease 0.140 None 1.000 10 1 2008 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
phenotype 0.140 None 1.000 0 0 2005 2014
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis
phenotype 0.140 None 1.000 0 0 2006 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute
disease 0.130 None 1.000 41 1 2001 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
disease 0.130 None 1.000 0 0 2008 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 None 1.000 0 0 2002 2009