Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166200 | Osteogenesis imperfecta, type I | HP:0040283 - Occasional | | | 373 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 373 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | COL1A1 CL E G H | 1277 | 2197 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 373 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:259420 | Osteogenesis imperfecta, type III | . | | | 243 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | COL1A2 CL E G H | 1278 | 2198 | OMIM:166220 | Osteogenesis imperfecta, type IV | . | | | 243 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:605594 | Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | . | | | 38 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125420 | Dentin dysplasia, type II | | | | 38 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125490 | Dentinogenesis imperfecta 1 | . | | | 38 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | | | | 38 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | FKBP10 CL E G H | 60681 | 18169 | OMIM:610968 | Osteogenesis imperfecta, type XI | . | | | 61 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | P4HB CL E G H | 5034 | 8548 | OMIM:112240 | Cole-Carpenter syndrome 1 | | | | 2 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | | | | 217 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | PPIB CL E G H | 5479 | 9255 | OMIM:259440 | Osteogenesis imperfecta, type IX | . | | | 39 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | SEC24D CL E G H | 9871 | 10706 | OMIM:616294 | Cole-Carpenter syndrome 2 | . | | | 5 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | SERPINH1 CL E G H | 871 | 1546 | OMIM:613848 | Osteogenesis imperfecta, type X | . | | | 52 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040281 - Very frequent | | | 133 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:184260 | Osteochondrodysplasia | | | | 133 | | |
HP:0000703 | HP:0000703 | Dentinogenesis imperfecta | 0 | ZNF469 CL E G H | 84627 | 23216 | OMIM:229200 | Brittle cornea syndrome | . | | | 397 | | |
HP:0000703 | HP:0011086 | Dentinogenesis imperfecta of primary and permanent teeth | 1 | CL E G H | | | | | | | | | | |
HP:0000703 | HP:0011060 | Dentinogenesis imperfecta limited to primary teeth | 1 | DSPP CL E G H | 1834 | 3054 | OMIM:125420 | Dentin dysplasia, type II | . | | | 38 | | |
HP:0000703 | HP:0000694 | Odontodysplasia | 1 | DSPP CL E G H | 1834 | 3054 | OMIM:125500 | Dentinogenesis imperfecta, shields type III | . | | | 38 | | |
HP:0000703 | HP:0000694 | Odontodysplasia | 1 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040282 - Frequent | | | 217 | | |