Disorder "Compensatory Emphysema"
Found 2 records
Disorder information
Disorder name:
Compensatory Emphysema
Disoder ID:
Definition:
Emphysema is a lung condition that causes shortness of breath. In people with emphysema, the air sacs in the lungs (alveoli) are damaged. Over time, the inner walls of the air sacs weaken and rupture — creating larger air spaces instead of many small ones. This reduces the surface area of the lungs and, in turn, the amount of oxygen that reaches your bloodstream.
Modifier statisitcs
Record:
2
Gene:
1
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Altered onset time and severity(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| KL | KL:c.1054T>G(p.Phe352Val) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more |
| KL:c.1109G>C(p.Cys370Ser) | Expressivity | Altered onset time and severity | Combined OR=2.59, P<0.0023 | The KL-VS allele influences the trafficking and catalytic activity of klotho, and that variation in klotho function contributes to heterogeneity in the onset and severity of human age-related phenotypes.more | more |
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