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:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | AMELX CL E G H | 265 | 461 | OMIM:301200 | Amelogenesis imperfecta, type IE | . | | | 17 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:617877 | Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies | . | | | 13 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | ENAM CL E G H | 10117 | 3344 | OMIM:204650 | Amelogenesis imperfecta, type IC | . | | | 50 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | FAM83H CL E G H | 286077 | 24797 | OMIM:130900 | Amelogenesis imperfecta, type III | . | | | 22 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | GNAI3 CL E G H | 2773 | 4387 | OMIM:602483 | Auriculocondylar syndrome 1 | . | | | 2 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | GPR68 CL E G H | 8111 | 4519 | OMIM:617217 | AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA6; AI2A6 | | | | 3 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | ITGB6 CL E G H | 3694 | 6161 | OMIM:616221 | AMELOGENESIS IMPERFECTA, TYPE IH; AI1H | | | | 8 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 13 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | KLK4 CL E G H | 9622 | 6365 | OMIM:204700 | Amelogenesis imperfecta, hypomaturation type, iia1 | HP:0040284 - Very rare | | | 6 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | MMP20 CL E G H | 9313 | 7167 | OMIM:612529 | Amelogenesis imperfecta, hypomaturation type, iia2 | HP:0040283 - Occasional | | | 37 | | |
HP:0009102 | HP:0009102 | Anterior open-bite malocclusion | 0 | RELT CL E G H | 84957 | 13764 | OMIM:618386 | Amelogenesis imperfecta, type IIIC | . | | | | | |