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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] |
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| H01869 | Megacystis microcolon intestinal hypoperistalsis syndrome | Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a rare congenital anomaly with decreased muscular tone in the urinary tract and intestine. MMIHS is characterized by prenatal-onset ... | Congenital malformation |
(MMIHS1) MYLK [HSA:4638] [KO:K00907] (MMIHS2) MYH11 [HSA:4629] [KO:K10352] (MMIHS3) LMOD1 [HSA:25802] [KO:K22030] (MMIHS4) MYL9 [HSA:10398] [KO:K12755] (MMIHS5) ACTG2 [HSA:72] [KO:K12315] |
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| H02553 | Visceral myopathy | Visceral myopathy (VSCM) is a rare inherited form of myopathic pseudo-obstruction. It is characterized by impaired functions of enteric smooth muscle cells, resulting in abnormal intestinal motility, severe ... | Congenital malformation |
(VSCM1) ACTG2 [HSA:72] [KO:K12315] (VSCM2) MYH11 [HSA:4629] [KO:K10352] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |