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:0004382 | HP:0004382 | Mitral valve calcification | 0 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | | | | 1361 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77261 | Gaucher disease type 3 | HP:0040283 - Occasional | | | | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | | | | | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:2072 | Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | HP:0040282 - Frequent | | | | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | HGD CL E G H | 3081 | 4892 | OMIM:203500 | Alkaptonuria | . | | | 77 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | HGD CL E G H | 3081 | 4892 | ORPHA:56 | Alkaptonuria | HP:0040282 - Frequent | | | 77 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:182250 | Singleton-Merten syndrome 1 | . | | | 28 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:363618 | LMNA-related cardiocutaneous progeria syndrome | HP:0040281 - Very frequent | | | 645 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | MTX2 CL E G H | 10651 | 7506 | OMIM:619127 | MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS | | | | | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | SLC34A2 CL E G H | 10568 | 11020 | ORPHA:60025 | Pulmonary alveolar microlithiasis | HP:0040284 - Very rare | | | 7 | | |
HP:0004382 | HP:0004382 | Mitral valve calcification | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0004382 | HP:0033642 | Mitral valve leaflet calcification | 1 | CL E G H | | | | | | | | | | |
HP:0004382 | HP:0005136 | Mitral annular calcification | 1 | FBN1 CL E G H | 2200 | 3603 | OMIM:154700 | Marfan syndrome | . | | | 1361 | | |