Disease Term Disease ID Gene Symbol References
Aortic Aneurysm C0003486 ACTA2
ADAR
AGT 21925196
ARF1
BCR
CHRNG
COL1A1
CRKL
ELN
FBN1
FBN2
FLNA
FLNB
HGD
LOX 27432961
SMAD3 21217753
SMAD6
MAP1B
MMP9 10231640
COX1
COX2
COX3
ND1
ND4
ND5
ND6
TRNF
TRNH
TRNL1
TRNQ
TRNS1
TRNS2
TRNW
MYH3
MYH11
MYLK
MAPK1
PTEN
ALDH18A1
SKI 23023332
TGFBR1
TGFBR2 16885183
FBLN5
RNASEH2A
ARFGEF2
TREX1
TAB2
NEDD4L
SAMHD1
SLC25A24
EFEMP2 16685658, 17937443
RIN2
ERMARD
NOD2
IFIH1
RNASEH2B
RNASEH2C
C12orf57
TMTC3
Aortic Aneurysm, Abdominal C0162871 ACTA2
AGT 16514081, 20937366, 25301841, 22539767
AGTR1 22539767
COL3A1 2243125, 10388642
ELN
ERG 27899403
FBN1 27418160
FOXE3
IL6R 27899403
LDLR 27899403, 24046328
LOX
LRP1 22055160, 27899403
SMAD3
MAT2A
MMP9 17196988
MMP14 19010778
MYH11
MYLK
PRKG1
PTGS2 16514081
SOD2 17196988
TGFB2
TGFB3
TGFBR1
TGFBR2
MFAP5
PTPN22
ACE2 25301841
PCIF1 27899403
ANKRD44 27418160
DAB2IP 27899403, 20622881
SLC30A8 22055160
NSMCE2
NCF1 16864727
CDKN2B-AS1 20622881, 27418160, 27899403
ANKRD44-IT1 27418160
Aortic Aneurysm, Thoracic C0162872 ACTA2 17994018
FBN1 21909107, 27418160
MMP2 16159824
MMP9 16159824
PRKG1
TGFB2 22772371, 22772368
TGFBR2 16027248
MFAP5
ROBO4 30455415
ANKRD44 27418160
CDKN2B-AS1 27418160
ANKRD44-IT1 27418160
Aortic Aneurysm, Thoracoabdominal C0340630 ACTA2 17994018
FBN1 21909107
MMP2 16159824
MMP9 16159824
TGFB2 22772368, 22772371
TGFBR2 16027248
ROBO4 30455415
Aortic Aneurysm, Familial Thoracic 6 C2673186 ACTA2 24293535, 26153420, 27481187, 22946110, 21248741, 19639654, 21937134, 25759435, 22752479, 27567161, 17994018, 21733706, 24020716, 24621862, 24243736, 27611364, 26888179, 19409525, 21212136, 24998021, 25644172, 26034244, 25944730, 22831780, 21288906, 20734336
STAMBPL1 21733706, 17994018, 21248741, 25759435, 26153420, 24020716, 27567161, 19409525, 19639654, 24621862, 21937134, 25644172, 24243736, 22831780, 26034244, 27611364, 20734336, 22946110, 22752479, 21212136, 24998021, 21288906, 24293535, 27481187, 25944730
ACTA2-AS1 19409525, 26153420, 19639654, 25644172, 17994018
Aneurysm, Dissecting C0002949 AGT 17502491
COL1A1 8757037
COL3A1
COL5A1
COL5A2
SMAD3 21217753
PLOD1
TGFBR1 22772368
TGFBR2 16885183, 16027248
Aortic Aneurysm, Ruptured C0741160 ATP7A 25449986, 2346371
FBN1 18178469
MMP2 18178469
MMP9 18178469
VKORC1 16549638
AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 C1853365 COL3A1 10388642, 2243125
AORTIC ANEURYSM, FAMILIAL THORACIC 10 C4284414 LOX 27432961, 26838787
SRFBP1
Aortic aneurysm, familial thoracic 4 C1851504 MYH11 16444274, 26888179, 21937134, 27611364, 17666408
NDE1 16444274, 21937134, 27611364
AORTIC ANEURYSM, FAMILIAL THORACIC 7 C3151077 MYLK 21055718, 28401540, 26188975, 25907466
MYLK-AS1
AORTIC ANEURYSM, FAMILIAL THORACIC 8 C3809513 PRKG1 23910461, 27442293
Aortic aneurysm, familial thoracic 3 C2674574 TGFBR2 20101701, 15235604, 16928994, 23161884, 26888179, 15731757, 22113417, 20358619, 19883511, 16027248, 19533785, 28344185, 21949523, 17979970, 16251899, 12975342
AORTIC ANEURYSM, FAMILIAL THORACIC 9 C4015368 MFAP5 25434006, 26854089