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: 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: 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: 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: 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: 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: 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: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.110 None 1.000 0 0 2006 2006
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
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: C0006625
Disease: Cachexia
Cachexia 		phenotype 0.110 None < 0.001 0 0 2013 2013
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0858618
Disease: Dyschromatopsia
Dyschromatopsia 		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: C0005745
Disease: Blepharoptosis
Blepharoptosis 		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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2007 2007
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		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: C1846868
Disease: Parkinsonism with favorable response to dopaminergic medication
Parkinsonism with favorable response to dopaminergic medication 		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: C1843865
Disease: Vestibular dysfunction
Vestibular dysfunction 		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: C1843859
Disease: Sensory ataxic neuropathy
Sensory ataxic 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: C1843858
Disease: Atrophy/Degeneration involving the spinal cord
Atrophy/Degeneration involving the spinal cord 		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: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		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: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		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: C1850573
Disease: Slender build
Slender build 		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: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		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: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		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: C1849488
Disease: Increased serum pyruvate
Increased serum pyruvate 		phenotype 0.100 None 0 0