Thoracic aortic aneurysm and aortic dissection

Disease Term Disease ID Gene Symbol Classification References Source
Familial thoracic aortic aneurysm and aortic dissection 91387, C4707243 ACTA2 Causal Pathogenic evidence from ClinVar 11053242, 17994018, 19409525, 19639654, 20689142, 20734336, 20970362, 21248741, 21733706, 22302747, 22752479, 23099432, 26153420, 27551047 ClinVar
BGN Causal Pathogenic evidence from ClinVar 17502576, 27632686 ClinVar
CBS Causal Pathogenic evidence from ClinVar - ClinVar
COL3A1 Causal Pathogenic evidence from ClinVar 2243125, 2349939, 2365710, 3162228, 8098182, 9050868, 19695909, 21071432, 24922459, 25907466 ClinVar
COL5A1 Causal Pathogenic evidence from ClinVar - ClinVar
FBN1 Causal Pathogenic evidence from ClinVar 952872, 2005308, 3495735, 4750422, 7611299, 7762551, 7896820, 7911051, 7977366, 8004112, 8136837, 8406497, 8504310, 8863159, 8884270, 8941093, 9241263, 9254848, 9326947, 9338581, 9399842, 9837823, 10229672, 10425041, 10464652, 10486319, 10533071, 10612827, 10647894, 10721679, 10756346, 10766875, 10930463, 11139245, 11175294, 11251996, 11391655, 11524736, 11700157, 11780406, 11826022, 11829507, 11875032, 11933199, 12068374, 12161601, 12203992, 12402346, 12598898, 12651868, 12700307, 12938084, 14586646, 14695540, 15054843, 15161917, 15241795, 15254584, 15371449, 15733436, 15821637, 16220557, 16222657, 16342915, 16476890, 16571647, 16596670, 16677079, 16765689, 16835936, 16905551, 16995940, 17224687, 17253931, 17324963, 17418587, 17627385, 17657824, 17663468, 17679947, 17680538, 17701892, 17718856, 17884807, 18079676, 18435798, 18615205, 19002209, 19012347, 19159394, 19161152, 19293843, 19293848, 19349279, 19353630, 19533785, 19618372, 19659760, 19720936, 19802897, 19839986, 19863550, 19941982, 20564469, 2088663 ClinVar
FBN2 Causal Pathogenic evidence from ClinVar 8120105, 9714438, 16407178, 19006240, 22921888, 25975422 ClinVar
FLNA Causal Pathogenic evidence from ClinVar 17172441, 19720936, 23032111, 23977256, 26188975, 26923587, 27023351 ClinVar
LOX Causal Pathogenic evidence from ClinVar 1975633, 12417550, 12473682, 26838787, 27432961, 30675029 ClinVar
MAT2A Causal Pathogenic evidence from ClinVar 25557781 ClinVar
MED12 Causal Pathogenic evidence from ClinVar - ClinVar
MYH11 Causal Pathogenic evidence from ClinVar 15998682, 16444274, 17666408, 21937134, 22511748, 22968129, 23099432, 25433566, 26056961, 27081537, 30675029 ClinVar
MYLK Causal Pathogenic evidence from ClinVar 21055718, 23362260, 23482558, 25907466, 26188975, 26703474 ClinVar
NOTCH1 Causal Pathogenic evidence from ClinVar 16025100, 16729972, 26820064, 26876948 ClinVar
PLOD1 Causal Pathogenic evidence from ClinVar - ClinVar
PRKG1 Causal Pathogenic evidence from ClinVar 9606187, 23910461, 27442293 ClinVar
SKI Causal Pathogenic evidence from ClinVar - ClinVar
SLC2A10 Causal Pathogenic evidence from ClinVar 14569121, 20639396 ClinVar
SMAD3 Causal Pathogenic evidence from ClinVar 10092624, 11779503, 15235019, 20101697, 21217753, 21778426, 23272854, 23585475, 23782924, 24804794, 25644172, 25944730, 26133393, 26854089, 30675029 ClinVar
TGFB2 Causal Pathogenic evidence from ClinVar 22772368, 22772371, 24193348 ClinVar
TGFB3 Causal Pathogenic evidence from ClinVar 16820603, 23824657, 25835445 ClinVar
TGFBR1 Causal Pathogenic evidence from ClinVar 15731757, 16596670, 16791849, 16928994, 18455604, 18781618, 19542084, 21267002, 21358634, 22113417, 22414221, 23884466, 24355923, 24793577, 25110237, 25521989, 25944730, 26188975, 27146836, 27611364, 27739498, 30675029 ClinVar
TGFBR2 Causal Pathogenic evidence from ClinVar 12821554, 12948523, 15235604, 15731757, 16027248, 16251899, 16791849, 16799921, 16885183, 16928994, 17652900, 17935258, 18084123, 18781618, 18827873, 19006214, 19159394, 19542084, 19996017, 20628007, 20829218, 20838339, 20956634, 21098638, 21267002, 21979435, 22095581, 22113417, 22259224, 22488992, 23103230, 23884466, 24355923, 24401272, 24792536, 25116393, 25555948, 25644172, 26494233, 27508510, 27879313, 28225382, 30675029 ClinVar
ACTA2-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19409525, 19639654 -
ACVRL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ADAMTS10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
B3GAT3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL11A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL18A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL1A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL1A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL4A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL4A5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL5A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL9A1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
COL9A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
DBP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
EFEMP2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16478991, 17293478, 19855011, 20019329, 22440127, 23518852, 26178373, 26220971 -