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:0005852 | HP:0005852 | Limited elbow extension and supination | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0005852 | HP:0005852 | Limited elbow extension and supination | 0 | MED12 CL E G H | 9968 | 11957 | ORPHA:93932 | FG syndrome type 1 | HP:0040282 - Frequent | | | 228 | | |
HP:0005852 | HP:0005852 | Limited elbow extension and supination | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |