Aortic aneurysm

Disease Term Disease ID Gene Symbol Classification References Source
AORTIC ANEURYSM, FAMILIAL THORACIC 10
617168C4284414MONDO:0014950OMIM:617168
LOX Causal — CTD ClinVar Disgenet GenCC HPO
SRFBP1 Unknown — Disgenet
AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
MONDO:0044301OMIM:617349
FOXE3 Unknown
111042 26854927
CTD ClinVar GWAS catalog
AORTIC ANEURYSM, FAMILIAL THORACIC 12
619825C5676959MONDO:0030731
THSD4 Causal
32855533
ClinVar Disgenet HPO
AORTIC ANEURYSM, FAMILIAL THORACIC 2
C1846837
ACTA2 Causal — Disgenet
COL3A1 Unknown — Disgenet
FBN1 Unknown — Disgenet
FBN2 Unknown — Disgenet
FLNA Unknown — Disgenet
SLC2A10 Unknown — Disgenet
AORTIC ANEURYSM, FAMILIAL THORACIC 3
C2674574
TGFBR2 Unknown — Disgenet
TMPO Unknown — Disgenet
AORTIC ANEURYSM, FAMILIAL THORACIC 4
132900C1851504MESH:C537784MONDO:0007568
MYH11 Causal — CTD ClinVar Disgenet GenCC HPO
NDE1 Unknown — Disgenet
AORTIC ANEURYSM, FAMILIAL THORACIC 6
611788C2673186MESH:C567085MONDO:0012730
ACTA2 Causal
17994018 21212136 21937134 26153420 27551047
CTD ClinVar Disgenet GWAS catalog HPO
FBN1 Unknown — Disgenet
SLC2A10 Unknown — Disgenet
SMAD3 Unknown — Disgenet
TGFBR1 Unknown — Disgenet
AORTIC ANEURYSM, FAMILIAL THORACIC 7
613780C3151077MONDO:0013418OMIM:613780
MYLK Causal
11096123 21055718
CTD ClinVar Disgenet HPO
AORTIC ANEURYSM, FAMILIAL THORACIC 8
615436C3809513MONDO:0014187OMIM:615436
PRKG1 Causal
21910461 23910461
CTD ClinVar Disgenet GWAS catalog HPO
AORTIC ANEURYSM, FAMILIAL THORACIC 9
616166C4015368MONDO:0014514OMIM:616166
MFAP5 Causal
23963447 251418 25434006 26854089 282646
CTD ClinVar Disgenet HPO
AORTIC ANEURYSM, THORACIC
MESH:D017545
ACTA2 Unknown
17994018
CTD
FBN1 Unknown
21909107
CTD
MMP2 Unknown
16159824
CTD
MMP9 Unknown
16159824
CTD
ROBO4 Unknown
30455415
CTD
TGFB2 Unknown
22772368 22772371
CTD
TGFBR2 Unknown
16027248
CTD