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GENE - TERM ANNOTATION REPORT

RGD ID: 736050
Species: Mus musculus
RGD Object: Gene
Symbol: Gpx4
Name: glutathione peroxidase 4
Acc ID: DOID:3852
Term: Peutz-Jeghers syndrome
Definition: A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Definition Source(s): MESH:D010580
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:7360498554872ClinVarClinVar Annotator: match by term: Peutz-Jeghers syndrome

PMID:16287113, PMID:16648371, PMID:17924967, PMID:20623358, PMID:22382802, PMID:23399955, PMID:28492532
 ISORGD:7360498554872ClinVarClinVar Annotator: match by term: Peutz-Jeghers syndrome

PMID:20623358, PMID:21118512, PMID:27550049, PMID:28492532
 ISORGD:7360498554872ClinVarClinVar Annotator: match by term: Peutz-Jeghers syndrome

PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.