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: C1854489
Disease: Limb dysmetria
Limb dysmetria 		phenotype 0.100 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: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.110 None 1.000 0 0 2016 2016
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: 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: 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: 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: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0025958
Disease: Microcephaly
Microcephaly 		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: 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: 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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease 0.100 None 1.000 0 0 2010 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: 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: 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: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease 0.110 None 1.000 0 0 2011 2011
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0152020
Disease: Gastroparesis
Gastroparesis 		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: 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: C0086543
Disease: Cataract
Cataract 		disease 0.110 None 1.000 0 0 2018 2018
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: 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: 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: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		phenotype 0.110 None 1.000 0 0 2020 2020
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C1295585
Disease: Decreased vibratory sense
Decreased vibratory sense 		phenotype 0.100 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease 0.110 None 1.000 0 0 2004 2004
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.110 None 1.000 0 0 2015 2015