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 0.477 0.724 1.3E-09
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease 0.500 0.900 0 0 2007 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group 0.500 0.933 0 0 2004 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
Chronic progressive external ophthalmoplegia
disease 0.500 0.966 0 0 2002 2017
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.450 0.800 0 0 2008 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures
disease 0.400 0 0 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal
phenotype 0.400 0 0 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype 0.200 0.800 0 0 2005 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0085605
Disease: Liver Failure
Liver Failure
disease 0.150 1.000 0 0 2009 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0162670
Disease: Mitochondrial Myopathies
Mitochondrial Myopathies
group 0.150 1.000 0 0 2005 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic
phenotype 0.130 1.000 0 0 2002 2009
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0085543
Disease: Epilepsia Partialis Continua
Epilepsia Partialis Continua
disease 0.120 0.500 0 0 2010 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0270921
Disease: Axonal neuropathy
Axonal neuropathy
disease 0.120 1.000 0 0 2004 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0270612
Disease: Leukoencephalopathies
Leukoencephalopathies
group 0.120 0.500 0 0 2004 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
group 0.120 1.000 0 0 2014 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0013362
Disease: Dysarthria
Dysarthria
disease 0.120 1.000 0 0 2013 2015
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0152020
Disease: Gastroparesis
Gastroparesis
disease 0.110 1.000 0 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities
phenotype 0.110 1.000 0 0 2007 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.110 1.000 0 0 2016 2016
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group 0.110 1.000 0 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0006625
Disease: Cachexia
Cachexia
phenotype 0.110 < 0.001 0 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria
disease 0.110 1.000 0 0 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.110 0 0 2006 2006
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0086543
Disease: Cataract
Cataract
disease 0.110 1.000 0 0 2012 2012
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.110 1.000 0 0 2007 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.477 0.724 1.3E-09
CUI: C0155320
Disease: Blindness, Cortical
Blindness, Cortical
disease 0.110 0 0 2008 2008