Disorder "Lung disease"
Found 1 record
Disorder information
Disorder name:
Lung disease
Disoder ID:
Definition:
A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Penetrance(1)
Modifier effect:
Altered incidence(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ABCA3 | ABCA3:rs145087575 | Penetrance | Altered incidence | Pedigree analysis | ABCA3 variants could affect disease pathogenesis.more | more |
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