Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

POLYMERASE, DNA, GAMMA

Synonyms

POLG1

ID

http://purl.bioontology.org/ontology/OMIM/174763

altLabel

POLG1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

POLG-ALPHA

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)

POLG

POLYMERASE, DNA, GAMMA-1

POLGA

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 1

POLG, CATALYTIC SUBUNIT

SPINOCEREBELLAR ATAXIA WITH EPILEPSY

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)

cui

C1868097

C4015968

C0205710

C1834846

C4225153

C1843851

C3150914

C1418731

C1843852

Gene Locus

15q25

Gene Symbol

POLG1

SANDO

MTDPS4B

MTDPS4A

PEO

MIRAS

SCAE

POLGA

POLG

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/174763.0001

http://purl.bioontology.org/ontology/OMIM/174763.0020

http://purl.bioontology.org/ontology/OMIM/174763.0014

http://purl.bioontology.org/ontology/OMIM/174763.0012

http://purl.bioontology.org/ontology/OMIM/174763.0013

http://purl.bioontology.org/ontology/OMIM/174763.0005

http://purl.bioontology.org/ontology/OMIM/174763.0007

http://purl.bioontology.org/ontology/OMIM/174763.0006

http://purl.bioontology.org/ontology/OMIM/174763.0019

http://purl.bioontology.org/ontology/OMIM/174763.0018

http://purl.bioontology.org/ontology/OMIM/174763.0010

http://purl.bioontology.org/ontology/OMIM/174763.0021

http://purl.bioontology.org/ontology/OMIM/174763.0002

http://purl.bioontology.org/ontology/OMIM/174763.0004

http://purl.bioontology.org/ontology/OMIM/174763.0015

http://purl.bioontology.org/ontology/OMIM/174763.0011

http://purl.bioontology.org/ontology/OMIM/174763.0003

http://purl.bioontology.org/ontology/OMIM/174763.0022

http://purl.bioontology.org/ontology/OMIM/174763.0009

http://purl.bioontology.org/ontology/OMIM/174763.0016

http://purl.bioontology.org/ontology/OMIM/174763.0017

http://purl.bioontology.org/ontology/OMIM/174763.0008

MIMTYPEMEANING

Gene with known sequence

notation

174763

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

POLYMERASE, DNA, GAMMA

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564395 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563575 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537583 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D002549 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP63485-4 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/G31.81 International Classification of Diseases, Version 10 - Clinical Modification CUI