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:0030038 | HP:0030038 | Enchondroma | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 116 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | | | | 284 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | | | | 15 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | | | | 15 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | | | | 29 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | | | | 29 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 28 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | PDE11A CL E G H | 50940 | 8773 | ORPHA:1359 | Carney complex | | | | 13 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | | | | | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | | | | 38 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | | | | 31 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:1359 | Carney complex | | | | 134 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | | | | 58 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:2499 | Metachondromatosis | | | | 291 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:156250 | METACHONDROMATOSIS | | | | 291 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 33 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 34 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 60 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 55 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | | | | 140 | | |
HP:0030038 | HP:0030038 | Enchondroma | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040284 - Very rare | | | 56 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040281 - Very frequent | | | 284 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 15 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:163634 | Maffucci syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | IDH2 CL E G H | 3418 | 5383 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 29 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | POLR1B CL E G H | 84172 | 20454 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | POLR1C CL E G H | 9533 | 20194 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | POLR1D CL E G H | 51082 | 20422 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:296 | Ollier disease | HP:0040281 - Very frequent | | | 58 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:2499 | Metachondromatosis | HP:0040281 - Very frequent | | | 291 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:156250 | METACHONDROMATOSIS | . | | | 291 | | |
HP:0030038 | HP:0005701 | Multiple enchondromatosis | 1 | TCOF1 CL E G H | 6949 | 11654 | ORPHA:861 | Treacher-Collins syndrome | HP:0040283 - Occasional | | | 140 | | |