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Entry Name Description Category Pathway Gene
H00801 Familial thoracic aortic aneurysm and dissection
Aortic aneurysm familial thoracic type (AAT)
... or vascular Ehlers-Danlos syndrome, and presence of a positive family history of TAAD. TGFBR2, TGFBR1, MYH11, ACTA2, and two loci on other chromosomes, AAT1 and AAT2, are associated with familial TAAD. Cardiovascular disease (AAT3) TGFBR2 [HSA:7048] [KO:K04388]
(AAT4) MYH11 [HSA:4629] [KO:K10352]
(AAT5) TGFBR1 [HSA:7046] [KO:K04674]
(AAT6) ACTA2 [HSA:59] [KO:K12313]
(AAT7) MYLK [HSA:4638] [KO:K00907]
(AAT8) PRKG1 [HSA:5592] [KO:K07376]
(AAT9) MFAP5 [HSA:8076] [KO:K25410]
(AAT10) LOX [HSA:4015] [KO:K00277]
(AAT11) FOXE3 [HSA:2301] [KO:K09398]
(AAT12) THSD4 [HSA:79875] [KO:K23377]
H01396 Moyamoya disease Moyamoya disease is a rare cerebrovascular disease characterized by a progressive stenosis or occlusion of the terminal portion of the internal carotid artery. This disease is associated with the compensatory ... Cardiovascular disease (MYMY2) RNF213 [HSA:57674] [KO:K22754]
(MYMY5) ACTA2 [HSA:59] [KO:K12313]
(MYMY6) GUCY1A3 [HSA:2982] [KO:K12318]
(MYMY7) ANO1 [HSA:55107] [KO:K19496]
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