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 |
---|---|---|---|---|---|---|
MYLK | MYLK:c.2693G>A(p.Arg898Gln) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
MYH11 | MYH11:c.5821A>T(p.Thr1941Ser) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
MFAP5 | MFAP5:c.341G>A(p.Arg114Gln) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
LOX | LOX:c.476C>A(p.Pro159Gln) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
FBN2 | FBN2:c.1040G>A(p.Arg347His) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
FBN2:c.1592G>C(p.Gly531Ala) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more | |
FBN1 | FBN1:c.6043G>A(p.Asp2015Asn) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
COL5A1 | COL5A1:c.2852A>G(p.Asn951Ser) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |
COL5A1:c.341C>A(p.Ala114Asp) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more | |
COL5A1:c.4240G>A(p.Asp1414Asn) | Expressivity | Altered severity | Pedigree analysis and gene activity study | Genetic modifiers of TAA severitymore | more |