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GENE - TERM ANNOTATION REPORT

RGD ID: 12664635
Species: Ictidomys tridecemlineatus
RGD Object: Gene
Symbol: Pon1
Name: paraoxonase 1
Acc ID: DOID:9002165
Term: Diabetic Nephropathies
Definition: KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
Definition Source(s): MESH:D003928
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)
Pon1 ISOPON1 (Homo sapiens)9068941RGDassociated with Diabetes Mellitus, Non-Insulin-DependentPMID:19207863 REF_RGD_ID:2313266
Pon1no_associationISOPON1 (Homo sapiens)9068941RGDassociated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human)PMID:24100645 REF_RGD_ID:8547572
Pon1susceptibilityISOPON1 (Homo sapiens)9068941RGDassociated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human)PMID:15270786 REF_RGD_ID:8547548
Pon1 ISOPON1 (Homo sapiens)9068941CTDCTD Direct Evidence: marker/mechanismPMID:26884296
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