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GENE - TERM ANNOTATION REPORT

RGD ID: 621808
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Park7
Name: Parkinsonism associated deglycase
Acc ID: DOID:0111101
Term: maturity-onset diabetes of the young type 5
Definition: A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/11085914 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15930087 "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)
Park7 ISOPARK7 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Renal cysts and diabetes syndromePMID:12891685 PMID:14662519 PMID:14705128 PMID:14872018 PMID:15219840 PMID:15790532 PMID:16997464 PMID:19429112 PMID:22173095 PMID:22428580 PMID:22960331 PMID:22995991 PMID:25741868 PMID:26274610 PMID:26467025 PMID:27294386 PMID:27592010 PMID:28492532
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