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GENE - TERM ANNOTATION REPORT

RGD ID: 730872
Species: Homo sapiens
RGD Object: Gene
Symbol: SOD2
Name: superoxide dismutase 2
Acc ID: HP:0000939
Term: Osteoporosis
Definition: Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:28293453
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)
SOD2no_associationIAGP 11035299RGDDNA:SNPs:5' utr, exon, intron:multiple 
SOD2susceptibilityIAGP 11035299RGDDNA:SNPs:intron, exon:g.31A>G, g.327C>T (p.A16V) (rs5746094, rs4880) 
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