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:
Variant:
13 
Reference:
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
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