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GENE - TERM ANNOTATION REPORT

1 Annotations Found.

An association has been curated linking Polg and mitochondrial DNA depletion syndrome in Mus musculus.        

  • The association was inferred from sequence orthology (ISO)
    		•  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with POLG (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 44 RGD objects have been annotated to mitochondrial DNA depletion syndrome  (DOID:0070329)
  • 37 papers in RGD have been used to annotate Polg
  • Curation Notes: ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome
  • Original References(s): PMID:11431686 PMID:11897778 PMID:12210792 PMID:12707443 PMID:12872260 PMID:14467368 PMID:15181170 PMID:15258572 PMID:15349879 PMID:15351195 PMID:15689359 PMID:15929042 PMID:16177225 PMID:16401742 PMID:16595552 PMID:16634032 PMID:16940310 PMID:17310215 PMID:17426723 PMID:17725985 PMID:17980715 PMID:18446447 PMID:18487244 PMID:18500570 PMID:18546365 PMID:18828154 PMID:19307547 PMID:19478085 PMID:19752458 PMID:20185557 PMID:20301791 PMID:20513108 PMID:2067633 PMID:20818383 PMID:21228000 PMID:21301859 PMID:21305355 PMID:21670405 PMID:21696159 PMID:21880868 PMID:22000311 PMID:22006280 PMID:22114710 PMID:22189570 PMID:22342071 PMID:22357363 PMID:22470557 PMID:22616202 PMID:23448099 PMID:23545419 PMID:24033266 PMID:24265579 PMID:24272679 PMID:24398692 PMID:24508722 PMID:24642831 PMID:2504279 PMID:25203713 PMID:25281868 PMID:25340760 PMID:25585994 PMID:25741868 PMID:26077851 PMID:26095671 PMID:26224072 PMID:26467025 PMID:26554610 PMID:27185166 PMID:2725645 PMID:27538604 PMID:27987238 PMID:28074849 PMID:28130605 PMID:28337550 PMID:28430993 PMID:28480171 PMID:28492532 PMID:28634151 PMID:28812649 PMID:29474836 PMID:30451971 PMID:30609409 PMID:31147703 PMID:31521625 PMID:32161153 PMID:32504279 PMID:33258288 PMID:33671400 PMID:33791913 PMID:34690748 PMID:34782754 PMID:35114397 PMID:35760101


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