Disorder "Interstitial Pulmonary Abnormality"
Found 1 record
Disorder information
Disorder name:
Interstitial Pulmonary Abnormality
Disoder ID:
Definition:
Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IRF5 | IRF5:c.-8169G>A | Expressivity | Risk factor | HR=0.75, 95% CI: 0.62 to 0.90, P=0.002 | The IRF5 SNP rs4728142 confers higher risk for SSc, but also longer survival with milder ILDmore | more |
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