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GENE - TERM ANNOTATION REPORT

RGD ID: 732179
Species: Homo sapiens
RGD Object: Gene
Symbol: POLG
Name: DNA polymerase gamma, catalytic subunit
Acc ID: DOID:0080127
Term: mitochondrial DNA depletion syndrome 8A
Definition: A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)
Definition Source(s): https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/24741716 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/30439532 "DO" "DO", https://www.omim.org/entry/612075 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:17950645 PMID:18487244 PMID:18546365 PMID:19103152 PMID:19251978 PMID:19862739 PMID:20818383 PMID:21259344 PMID:21484424 PMID:21880868 PMID:22494076 PMID:23084792 PMID:23430834 PMID:25741868 PMID:26467025 PMID:28492532 PMID:31085725 PMID:32445240 PMID:33233646 PMID:34052969 PMID:34670123 PMID:37184518
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:22863191 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32613234 PMID:35861376 PMID:36703223
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:17846414 PMID:18546365 PMID:20434700 PMID:21880868 PMID:23251356 PMID:25118206 PMID:25462018 PMID:25741868 PMID:26467025 PMID:27119776 PMID:28444220 PMID:28492532 PMID:29341116 PMID:31669236
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:21880868 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30290626
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:18414213 PMID:21654874 PMID:21880868 PMID:23299917 PMID:25741868 PMID:26467025 PMID:28492532 PMID:32305867 PMID:33486010
POLG IAGP (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiencyPMID:25741868
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:12707443 PMID:16621917 PMID:18487244 PMID:18546365 PMID:19752458 PMID:20185557 PMID:21305355 PMID:21880868 PMID:22189570 PMID:23208208 PMID:24265579 PMID:25741868 PMID:25741916 PMID:27111573 PMID:28471437 PMID:28492532 PMID:30021052 PMID:30167885
POLG IAGP (Homo sapiens) or (Homo sapiens) or (Homo sapiens) or (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:25741868 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:23524600 PMID:25741868 PMID:26467025 PMID:27987238 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:15181170 PMID:15351195 PMID:16401742 PMID:19578034 PMID:19752458 PMID:21880868 PMID:22647225 PMID:23426270 PMID:23811324 PMID:24122062 PMID:24259288 PMID:24331360 PMID:24508722 PMID:25193669 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29029963 PMID:29997391 PMID:30255931 PMID:30373890 PMID:31658717 PMID:31669236 PMID:32234506 PMID:33513296 PMID:33683010
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndromePMID:16545482 PMID:16621917 PMID:16639411 PMID:18487244 PMID:18546365 PMID:18828154 PMID:20843780 PMID:21282586 PMID:21357833 PMID:21880868 PMID:21956653 PMID:23446635 PMID:23446645 PMID:23921535 PMID:24642831 PMID:25741868 PMID:26467025 PMID:27450679 PMID:28492532 PMID:30167885 PMID:31980526 PMID:32042919
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:16199547 PMID:18546365 PMID:21880868 PMID:25741868 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:18716558 PMID:21824913 PMID:25741868 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:24122062 PMID:25741868 PMID:28492532 PMID:30941926
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:25741868 PMID:28492532 PMID:29482223
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:14745080 PMID:25741868 PMID:28130605 PMID:28492532 PMID:30818899
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:11431686 PMID:11571332 PMID:12565911 PMID:14635118 PMID:14694057 PMID:15122711 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16638794 PMID:16896309 PMID:17426723 PMID:17438011 PMID:18500570 PMID:18546343 PMID:18783964 PMID:19010300 PMID:19251978 PMID:19501198 PMID:19538466 PMID:19578034 PMID:19766516 PMID:19813183 PMID:20138553 PMID:20142534 PMID:20301791 PMID:20576279 PMID:20691285 PMID:20818383 PMID:20837861 PMID:21235791 PMID:21276947 PMID:21515089 PMID:21647632 PMID:21686371 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:22711370 PMID:22931735 PMID:22995991 PMID:23212759 PMID:23250882 PMID:23430834 PMID:23448099 PMID:23783014 PMID:24033266 PMID:24272679 PMID:24725338 PMID:25286830 PMID:25741868 PMID:26104464 PMID:26467025 PMID:26735972 PMID:26942291 PMID:26942292 PMID:27422324 PMID:27987238 PMID:28492532 PMID:28771251 PMID:28812649 PMID:29588995 PMID:29655203 PMID:30167885 PMID:30369941 PMID:30423451 PMID:31589614 PMID:31980526 PMID:33473333 PMID:33726816 PMID:34782754 PMID:632821
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:11431686 PMID:16368709 PMID:16639411 PMID:18195149 PMID:20601675 PMID:21880868 PMID:22006280 PMID:24288107 PMID:25741868 PMID:26095671 PMID:28492532 PMID:32567010
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:12210792 PMID:12297582 PMID:12707443 PMID:12825077 PMID:14635118 PMID:15349879 PMID:15689359 PMID:16545482 PMID:16621917 PMID:18487244 PMID:18546365 PMID:18828154 PMID:19189930 PMID:19251978 PMID:19566497 PMID:19578034 PMID:20385918 PMID:20513108 PMID:21138766 PMID:21880868 PMID:22616202 PMID:23324391 PMID:23665194 PMID:23783014 PMID:23804100 PMID:23921535 PMID:24122062 PMID:24508722 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25940035 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:26742794 PMID:27538604 PMID:28130605 PMID:28154168 PMID:28471437 PMID:28492532 PMID:29358615 PMID:29431110 PMID:29474836 PMID:30369941 PMID:30423451 PMID:30487145 PMID:30936349 PMID:31645654 PMID:33396418 PMID:33956154 PMID:35350396
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:12210792 PMID:12872260 PMID:15349879 PMID:15689359 PMID:15929042 PMID:16177225 PMID:17426723 PMID:17980715 PMID:18500570 PMID:18828154 PMID:19307547 PMID:19478085 PMID:20301791 PMID:20513108 PMID:20818383 PMID:21228000 PMID:21670405 PMID:21880868 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22616202 PMID:23448099 PMID:24272679 PMID:25585994 PMID:25741868 PMID:26467025 PMID:28492532 PMID:34782754
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:11555352 PMID:12210792 PMID:12707443 PMID:12825077 PMID:12975295 PMID:14635118 PMID:15349879 PMID:1539879 PMID:15689359 PMID:16401742 PMID:16545482 PMID:16621917 PMID:17418573 PMID:18828154 PMID:19189930 PMID:19566497 PMID:19578034 PMID:20385918 PMID:20513108 PMID:21138766 PMID:21880868 PMID:22616202 PMID:23324391 PMID:23448099 PMID:23665194 PMID:23783014 PMID:23804100 PMID:24122062 PMID:24265579 PMID:25585994 PMID:25660390 PMID:25741868 PMID:25742477 PMID:25940035 PMID:26104464 PMID:26224072 PMID:26337858 PMID:26467025 PMID:26468652 PMID:27538604 PMID:28130605 PMID:28154168 PMID:28471437 PMID:28492532 PMID:28812649 PMID:29358615 PMID:29474836 PMID:30369941 PMID:30423451 PMID:30487145 PMID:30936349 PMID:31645654 PMID:33579567 PMID:33956154 PMID:34008892 PMID:34194468 PMID:34927673 PMID:35350396 PMID:7847370
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 PMID:17426723 PMID:17438011 PMID:17950645 PMID:17980715 PMID:18991199 PMID:19010300 PMID:20691285 PMID:21038416 PMID:21228398 PMID:23783014 PMID:24033266 PMID:25462018 PMID:25741868 PMID:26104464 PMID:26467025 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:25462018 PMID:25741868 PMID:26467025 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:19629138 PMID:25741868 PMID:28492532
POLG IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTIONPMID:18414213 PMID:21357833 PMID:21880868 PMID:25741868 PMID:26467025 PMID:28337550 PMID:28492532 PMID:28776642 PMID:32391929 PMID:34426522 PMID:36325100
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