Disorder "Interstitial lung disease"
Found 1 record
Disorder information
Disorder name:
Interstitial lung disease
Disoder ID:
Synonyms:
ILD
Definition:
A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough.
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 |
|---|---|---|---|---|---|---|
| ABCA3 | ABCA3:rs139695699 | Expressivity | Altered severity | Pedigree analysis | ABCA3 acts as a modifier gene for the phenotype associated with an SFTPC mutationmore | more |
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