Disorder "Pulmonary Fibrosis"
Found 1 record
Disorder information
Disorder name:
Pulmonary Fibrosis
Disoder ID:
Synonyms:
Fibrosis of lung
Definition:
Replacement of normal lung tissues by fibroblasts and collagen.
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 |
---|---|---|---|---|---|---|
TGFB1 | TGFB1:c.869T>C | Expressivity | Altered severity | From review article | This T869C polymorphism have implications in cystic fibrosis with the homozygous CC genotype having association with greater severity of lung diseasemore | more |
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