Disorder "Scoliosis"
Found 1 record
Disorder information
Disorder name:
Scoliosis
Disoder ID:
Definition:
The presence of an abnormal lateral curvature of the spine.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| TIMP2 | TIMP2:c.-719G>C | Expressivity | Altered severity | P<0.05 | The TIMP-2 gene is a disease-modifier gene of thoracic AISmore | more |
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