Rare disease: Familial thoracic aortic aneurysm and aortic dissection (Orphanet code 91387)
Associated genes:
Name: forkhead box E3
Symbol: FOXE3
Synonyms: lang: en
text: FREAC8
GeneType: Name: gene with protein product
Name: thrombospondin type 1 domain containing 4
Symbol: THSD4
Synonyms: lang: en
text: ADAMTSL6
lang: en
text: FLJ13710
lang: en
text: FVSY9334
lang: en
text: PRO34005
GeneType: Name: gene with protein product
Name: SMAD family member 2
Symbol: SMAD2
Synonyms: lang: en
text: JV18-1
lang: en
text: MADR2
GeneType: Name: gene with protein product
Name: lysyl oxidase
Symbol: LOX
Synonyms: lang: en
text: protein-lysine 6-oxidase
GeneType: Name: gene with protein product
Name: methionine adenosyltransferase 2A
Symbol: MAT2A
Synonyms: lang: en
text: MAT-II
lang: en
text: MATA2
lang: en
text: MATII
lang: en
text: S-adenosylmethionine synthase isoform type-2
lang: en
text: SAMS2
GeneType: Name: gene with protein product
Name: elastin
Symbol: ELN
Synonyms: lang: en
text: SVAS
lang: en
text: WBS
lang: en
text: WS
lang: en
text: Williams-Beuren syndrome
lang: en
text: supravalvular aortic stenosis
lang: en
text: tropoelastin
GeneType: Name: gene with protein product
Name: hes related family bHLH transcription factor with YRPW motif 2
Symbol: HEY2
Synonyms: lang: en
text: HERP1
lang: en
text: HESR2
lang: en
text: bHLHb32
GeneType: Name: gene with protein product
Name: transforming growth factor beta 3
Symbol: TGFB3
Synonyms: lang: en
text: prepro-transforming growth factor beta-3
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 1
Symbol: TGFBR1
Synonyms: lang: en
text: ACVRLK4
lang: en
text: ALK-5
lang: en
text: ALK5
lang: en
text: TBR-i
lang: en
text: TBRI
lang: en
text: activin A receptor type II-like kinase, 53kDa
GeneType: Name: gene with protein product
Name: transforming growth factor beta receptor 2
Symbol: TGFBR2
Synonyms: lang: en
text: TBR-ii
lang: en
text: TBRII
GeneType: Name: gene with protein product
Name: fibrillin 1
Symbol: FBN1
Synonyms: lang: en
text: MASS
lang: en
text: Marfan syndrome
lang: en
text: OCTD
lang: en
text: SGS
lang: en
text: asprosin
GeneType: Name: gene with protein product
Name: actin alpha 2, smooth muscle
Symbol: ACTA2
Synonyms: lang: en
text: ACTSA
GeneType: Name: gene with protein product
Name: myosin light chain kinase
Symbol: MYLK
Synonyms: lang: en
text: KRP
lang: en
text: MLCK
lang: en
text: MLCK1
lang: en
text: MLCK108
lang: en
text: MLCK210
lang: en
text: MYLK-L
lang: en
text: MYLK1
lang: en
text: Telokin
lang: en
text: kinase related protein
lang: en
text: smMLCK
lang: en
text: smooth muscle myosin light chain kinase
GeneType: Name: gene with protein product
Name: SMAD family member 3
Symbol: SMAD3
Synonyms: lang: en
text: HsT17436
lang: en
text: JV15-2
GeneType: Name: gene with protein product
Name: protein kinase cGMP-dependent 1
Symbol: PRKG1
Synonyms: lang: en
text: PGK
lang: en
text: PKG
lang: en
text: PKG1
GeneType: Name: gene with protein product
Name: microfibril associated protein 5
Symbol: MFAP5
Synonyms: lang: en
text: MAGP2
lang: en
text: MP25
lang: en
text: microfibril-associated glycoprotein-2
GeneType: Name: gene with protein product
Name: transforming growth factor beta 2
Symbol: TGFB2
Synonyms: lang: en
text: prepro-transforming growth factor beta-2
GeneType: Name: gene with protein product
Name: SMAD family member 4
Symbol: SMAD4
Synonyms: lang: en
text: DPC4
GeneType: Name: gene with protein product
Name: myosin heavy chain 11
Symbol: MYH11
Synonyms: lang: en
text: SMHC
lang: en
text: SMMHC
lang: en
text: SMMS-1
GeneType: Name: gene with protein product