Source: HPO

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: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.620 None 1.000 0 0 2001 2018
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
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
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
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.430 None 1.000 0 0 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: 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
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: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease 0.370 None 1.000 0 0 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: 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: 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: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		group 0.130 None 1.000 0 0 2003 2019
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
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: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua 		disease 0.120 None 1.000 0 0 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		group 0.120 None 1.000 0 0 2013 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0026848
Disease: Myopathy
Myopathy 		group 0.120 None 1.000 0 0 2004 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.120 None 1.000 0 0 2001 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease 0.110 None 1.000 0 0 2012 2012
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 0 0 2010 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0033377
Disease: Ptosis
Ptosis 		disease 0.110 None < 0.001 0 0 2008 2008
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		disease 0.110 None 1.000 0 0 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.110 None 1.000 0 0 2020 2020