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:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 15 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 29 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:156250 | METACHONDROMATOSIS | . | | | 291 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:2499 | Metachondromatosis | HP:0040281 - Very frequent | | | 291 | | |
HP:0005701 | HP:0005701 | Multiple enchondromatosis | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |