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:0004380 | HP:0004380 | Aortic valve calcification | 0 | GATA5 CL E G H | 140628 | 15802 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 10 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040283 - Occasional | | | | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040282 - Frequent | | | | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | . | | | 77 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040282 - Frequent | | | 77 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:79474 | Atypical Werner syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 90 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | NOTCH1 CL E G H | 4851 | 7881 | OMIM:109730 | Aortic valve disease 1 | | | | 452 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 452 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | SMAD6 CL E G H | 4091 | 6772 | ORPHA:402075 | Familial bicuspid aortic valve | HP:0040281 - Very frequent | | | 33 | | |
HP:0004380 | HP:0004380 | Aortic valve calcification | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0004380 | HP:0033641 | Aortic valve leaflet calcification | 1 | CL E G H | | | | | | | | | | |
HP:0004380 | HP:0033538 | Aortic annulus calcification | 1 | CL E G H | | | | | | | | | | |