POLG, DNA polymerase gamma, catalytic subunit, 5428

N. diseases: 462; N. variants: 173
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0033377
Disease: Ptosis
Ptosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2010 2010
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs113994095
rs113994095 		0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2014 2014
dbSNP: rs113994096
rs113994096 		0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0033377
Disease: Ptosis
Ptosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C3888962
Disease: POLG mutation
POLG mutation 		0.010 1.000 1 2007 2007
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2010 2010
dbSNP: rs113994097
rs113994097 		0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04
CUI: C0085605
Disease: Liver Failure
Liver Failure 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs113994098
rs113994098 		0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 1.000 1 2010 2010