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: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0031748 | HP:0031748 | Abnormal vertical rectus muscle physiology | 0 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0025603 | Abnormal superior rectus muscle physiology | 1 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0025600 | Abnormal inferior rectus muscle physiology | 1 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0025601 | Inferior rectus muscle weakness | 2 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031745 | Superior rectus muscle overaction | 2 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031743 | Inferior rectus muscle overaction | 2 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031744 | Superior rectus muscle weakness | 2 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031747 | Superior rectus muscle underaction | 3 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031746 | Superior rectus muscle restriction | 3 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0031742 | Inferior rectus muscle underaction | 3 | CL E G H | | | | | | | | | | | |
HP:0031748 | HP:0025602 | Inferior rectus muscle restriction | 3 | CL E G H | | | | | | | | | | | |