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:0001839 | HP:0001839 | Split foot | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:183600 | Split-Hand/foot malformation 1 | HP:0040281 - Very frequent | | | 3 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | DLX5 CL E G H | 1749 | 2918 | OMIM:220600 | Split-Hand/foot malformation 1 with sensorineural hearing loss | . | | | 3 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:1540 | Jackson-Weiss syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:93322 | Tibial hemimelia | HP:0040283 - Occasional | | | 270 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | MAP3K20 CL E G H | 51776 | 17797 | OMIM:616890 | Split-Foot malformation with mesoaxial polydactyly | | | | 2 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | MAP3K20 CL E G H | 51776 | 17797 | ORPHA:488232 | Split-foot malformation-mesoaxial polydactyly syndrome | | | | 2 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | PORCN CL E G H | 64840 | 17652 | OMIM:305600 | Focal dermal hypoplasia | . | | | 20 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:103285 | Adult syndrome | . | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:978 | ADULT syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | . | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | ORPHA:1896 | EEC syndrome | HP:0040281 - Very frequent | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:603543 | Limb-Mammary syndrome | . | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | TP63 CL E G H | 8626 | 15979 | OMIM:605289 | Split-Hand/foot malformation 4 | . | | | 140 | | |
HP:0001839 | HP:0001839 | Split foot | 0 | UBA2 CL E G H | 10054 | 30661 | OMIM:619959 | | | | | | | |
HP:0001839 | HP:0001839 | Split foot | 0 | WNT10B CL E G H | 7480 | 12775 | OMIM:225300 | SPLIT-HAND/FOOT MALFORMATION 6; SHFM6 | | | | 4 | | |