Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0008970 | HP:0008970 | Scapulohumeral muscular dystrophy | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 123 | 3954 | 601278 |
HP:0008970 | HP:0008970 | Scapulohumeral muscular dystrophy | 0 | FRG1 CL E G H | 2483 | 158900 | Facioscapulohumeral muscular dystrophy | 158900 | C0238288 | OMIM | 1 | | 121 | 3954 | 601278 |
HP:0008970 | HP:0008970 | Scapulohumeral muscular dystrophy | 0 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 859 | 29090 | 614982 |
HP:0008970 | HP:0008970 | Scapulohumeral muscular dystrophy | 0 | SMCHD1 CL E G H | 23347 | 158901 | Facioscapulohumeral muscular dystrophy 2 | 158901 | C1834671 | OMIM | 1 | | 724 | 29090 | 614982 |
HPO disease - gene - phenotype less frequent non-typical associations: |