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GENE - TERM ANNOTATION REPORT

RGD ID: 1305958
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Mtmr10
Name: myotubularin related protein 10
Acc ID: DOID:0060911
Term: karyomegalic interstitial nephritis
Definition: An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/16678356 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22772369 "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)
Mtmr10 ISOMTMR10 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: FAN1-related condition | ClinVar Annotator: match by term: Karyomegalic interstitial nephritisPMID:16678356 PMID:17304531 PMID:20621605 PMID:22772369 PMID:25741868 PMID:27196444 PMID:28492532 PMID:30773290 PMID:32111193 PMID:32220227 PMID:7847351
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