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GENE - TERM ANNOTATION REPORT

RGD ID: 1349272
Species: Homo sapiens
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)
PON1no_associationIAGP 8547572RGDassociated with Diabetes Mellitus;DNA:missense mutations:cds:p.L55M, p.Q192R (rs854560, rs662) (human) 
PON1susceptibilityIAGP 8547548RGDassociated with Diabetes Mellitus, Type 2;DNA:missense mutation:cds:p.Q192R (human) 
PON1 IDA 2313266RGDassociated with Diabetes Mellitus, Non-Insulin-Dependent 
PON1 EXP 11554173CTDCTD Direct Evidence: marker/mechanismPMID:26884296
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