Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | ACTA2 CL E G H | 59 | 130 | OMIM:611788 | AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6 | | | | 94 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | ACTA2 CL E G H | 59 | 130 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 94 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 172 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | EMILIN1 CL E G H | 11117 | 19880 | OMIM:620080 | | | | | 2 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 1361 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:608328 | Weill-Marchesani syndrome 2, dominant | | | | 1361 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | FOXE3 CL E G H | 2301 | 3808 | OMIM:617349 | AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11 | | | | 23 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 23 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 10 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | HEY2 CL E G H | 23493 | 4881 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | LOX CL E G H | 4015 | 6664 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 6 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MAT2A CL E G H | 4144 | 6904 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 13 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MFAP5 CL E G H | 8076 | 29673 | OMIM:616166 | AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 | | | | 11 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MFAP5 CL E G H | 8076 | 29673 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 11 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MYH11 CL E G H | 4629 | 7569 | OMIM:132900 | Aortic aneurysm, familial thoracic 4 | | | | 418 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:229 | Familial aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MYH11 CL E G H | 4629 | 7569 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 418 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MYLK CL E G H | 4638 | 7590 | OMIM:613780 | AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7 | | | | 326 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | MYLK CL E G H | 4638 | 7590 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 326 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 90 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 452 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | PRKG1 CL E G H | 5592 | 9414 | OMIM:615436 | AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8 | | | | 41 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | PRKG1 CL E G H | 5592 | 9414 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 41 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | SMAD2 CL E G H | 4087 | 6768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 7 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | SMAD3 CL E G H | 4088 | 6769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 260 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | SMAD3 CL E G H | 4088 | 6769 | OMIM:613795 | LOEYS-DIETZ SYNDROME 3; LDS3 | | | | 260 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 504 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040284 - Very rare | | | 33 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFB2 CL E G H | 7042 | 11768 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 162 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFB3 CL E G H | 7043 | 11769 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 85 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFB3 CL E G H | 7043 | 11769 | OMIM:615582 | LOEYS-DIETZ SYNDROME 5; LDS5 | | | | 85 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFBR1 CL E G H | 7046 | 11772 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 239 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFBR1 CL E G H | 7046 | 11772 | OMIM:609192 | Loeys-Dietz syndrome 1 | | | | 239 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFBR2 CL E G H | 7048 | 11773 | ORPHA:91387 | Familial thoracic aortic aneurysm and aortic dissection | HP:0040282 - Frequent | | | 253 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | TGFBR2 CL E G H | 7048 | 11773 | OMIM:610168 | Loeys-Dietz syndrome 2 | | | | 253 | | |
HP:0004933 | HP:0004933 | Ascending aortic dissection | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |