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:0031740 | HP:0031740 | Abnormal horizontal rectus muscle physiology | 0 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0025606 | Abnormal medial rectus muscle physiology | 1 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031749 | Abnormal lateral rectus muscle physiology | 1 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031750 | Lateral rectus muscle weakness | 2 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031754 | Medial rectus muscle overaction | 2 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031752 | Lateral rectus muscle overaction | 2 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031753 | Medial rectus muscle weakness | 2 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031756 | Medial rectus muscle underaction | 3 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031757 | Medial rectus muscle restriction | 3 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031751 | Lateral rectus muscle underaction | 3 | CL E G H | | | | | | | | | | | |
HP:0031740 | HP:0031758 | Lateral rectus muscle restriction | 3 | CL E G H | | | | | | | | | | | |