Thoracic aortic aneurysm and aortic dissection

Disease Term Disease ID Gene Symbol References
Familial thoracic aortic aneurysm and aortic dissection C4707243, 91387 ACTA2 26153420, 19639654, 23099432, 21733706, 22752479, 19409525, 22302747, 20970362, 21248741, 17994018, 20689142, 11053242, 27551047, 20734336
ACVRL1
JAG1
BGN 17502576, 27632686
CBS
COL1A1
COL1A2
COL3A1 8098182, 2365710, 2243125, 21071432, 25907466, 3162228, 19695909, 2349939, 9050868, 24922459
COL4A1
COL4A5
COL5A1
COL5A2
COL9A1
COL9A2
COL11A1
VCAN
DBP
ELN 24932728
ENG
FBN1 17418587, 17657824, 21907952, 22950452, 12203992, 24501682, 27175573, 19159394, 19941982, 16220557, 17253931, 12938084, 17324963, 26410935, 11875032, 19839986, 28855619, 11251996, 10533071, 27884935, 10930463, 9326947, 25101912, 24613577, 24161884, 9254848, 16677079, 15161917, 7911051, 16905551, 952872, 27611364, 25652356, 19161152, 15241795, 16765689, 12700307, 29357934, 4750422, 24833718, 11829507, 25979247, 25907466, 27893734, 24199744, 15254584, 26621581, 17680538, 22262941, 17718856, 23278365, 23684891, 15821637, 26770496, 7611299, 16835936, 24698609, 16995940, 11700157, 27906200, 25966184, 26272055, 19293843, 14695540, 21784848, 10486319, 11826022, 27234404, 28098115, 19012347, 19720936, 19533785, 17884807, 10612827, 10766875, 28973303, 7762551, 17663468, 16571647, 21895641, 12161601, 21932315, 9241263, 27112580, 3495735, 22736615, 20564469, 27437668, 14586646, 18615205, 8884270, 19618372, 8863159, 20886638, 9837823, 12402346, 11933199, 16342915, 7977366, 17701892, 17224687, 26787436, 7896820, 10721679, 10425041, 11391655, 8504310, 12651868, 21594993, 19659760, 11524736, 25944730, 9338581, 2005308, 22772377, 25900864, 25053872, 10647894, 11139245, 28941062, 8941093, 10229672, 16476890, 11780406, 9399842, 19802897, 19353630, 16222657, 18435798, 25644172, 11175294, 15371449, 30675029, 26333736, 10464652, 19293848, 19863550, 18079676, 19349279, 8406497, 24793577, 21542060, 15733436, 21135753, 26281765, 19002209, 22219643, 10756346, 17679947, 27724990, 16596670, 8004112, 17627385, 12068374, 15054843, 12598898, 22539340, 8136837
FBN2 19006240, 8120105, 22921888, 9714438, 16407178, 25975422
FOXE3 26854927
FLNA 23032111, 23977256, 26188975, 17172441, 27023351, 26923587, 19720936
LOX 30675029, 12473682, 26838787, 27432961, 1975633, 12417550
SMAD2 11779503, 19224541, 18548003, 26247899, 8980228, 9311995
SMAD3 11779503, 23585475, 25944730, 21217753, 26854089, 20101697, 21778426, 10092624, 15235019, 30675029, 26133393, 23272854, 23782924, 25644172, 24804794
SMAD4 30809044
SMAD6
MAT2A 25557781
MYH11 23099432, 22968129, 15998682, 16444274, 25433566, 26056961, 17666408, 22511748, 21937134, 30675029, 27081537
MYLK 25907466, 21055718, 26188975, 23362260, 23482558, 26703474
NOTCH1 26876948, 16025100, 26820064, 16729972
PKD1
PKD2
PLOD1
PRKG1 27442293, 23910461, 9606187
SKI
TGFB2 22772371, 24193348, 22772368
TGFB3 23824657, 25835445, 16820603
TGFBR1 27739498, 25110237, 18455604, 16928994, 22414221, 21267002, 16791849, 30675029, 26188975, 22113417, 16596670, 27611364, 15731757, 18781618, 24355923, 21358634, 24793577, 25521989, 23884466, 19542084, 25944730, 27146836
TGFBR2 23884466, 26494233, 22095581, 24355923, 22259224, 19159394, 25555948, 16799921, 27879313, 15235604, 20956634, 24401272, 25116393, 18827873, 27508510, 21098638, 16027248, 23103230, 21267002, 18084123, 16928994, 12821554, 20829218, 19996017, 18781618, 16251899, 16791849, 15731757, 19542084, 21979435, 20628007, 24792536, 17935258, 16885183, 28225382, 25644172, 19006214, 12948523, 30675029, 20838339, 22488992, 22113417, 17652900
MFAP5 17099216, 12122015, 23963447, 25434006, 10224057, 8557636, 19652764
PLOD3
MED12
HCN4 27173043, 23743334
EMILIN1
B3GAT3
EFEMP2 16478991, 23518852, 22440127, 26220971, 20019329, 19855011, 26178373, 17293478
NDE1
STAMBPL1 19409525, 21248741, 19639654, 20734336, 23099432, 22302747, 17994018, 22752479, 21733706, 20970362
UPF3B
COL18A1
SLC2A10 20639396, 14569121
ADAMTS10
IFT43
GATA5
SRFBP1 26838787, 27432961
ACTA2-AS1 19409525, 19639654
MYLK-AS1