Disorder "Thoracic Aortic Aneurysm"
Found 13 records
Disorder information
Disorder name:
Thoracic Aortic Aneurysm
Disoder ID:
OMIM entry:
Definition:
An abnormal localized widening (dilatation) of the thoracic aorta.
Modifier statisitcs
Record:
13
Gene:
9
Variant:
13
Reference:
1
Effect type:
Expressivity(13)
Modifier effect:
Altered severity(13)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| COL3A1 | COL3A1:c.1804C>A(p.Pro602Thr) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
| COL3A1:c.2035G>A(p.Ala679Thr) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more | |
| CBS | CBS:c.146C>T(p.Pro49Leu) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |