Disorder "Osteosarcoma"
Found 2 records
Disorder information
Disorder name:
Osteosarcoma
Disoder ID:
OMIM entry:
Synonyms:
Osteogenic sarcoma,Skeletal sarcoma,bone tissue neoplasm,osteoid sarcoma
Definition:
A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| VMP1 | VMP1:rs1295925 | Expressivity | Risk factor | OR=0.85; 95% CI: 0.76-0.94; P=0.003 | SNP rs1295925 and rs3787547 play an important role in the etiology of OS, suggesting them as the potential genetic modifier for OS development.more | more |
| BCAS1 | BCAS1:rs3787547 | Expressivity | Risk factor | OR=1.27; 95% CI: 1.11-1.45; P=4.0×10(-4) | SNP rs1295925 and rs3787547 play an important role in the etiology of OS, suggesting them as the potential genetic modifier for OS development.more | more |
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