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:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | CAMK2B CL E G H | 816 | 1461 | OMIM:617799 | Mental retardation, autosomal dominant 54 | | | | | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | CTSK CL E G H | 1513 | 2536 | ORPHA:763 | Pycnodysostosis | | | | 39 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | CTSK CL E G H | 1513 | 2536 | OMIM:265800 | PYCNODYSOSTOSIS | . | | | 39 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | DEAF1 CL E G H | 10522 | 14677 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | EDNRA CL E G H | 1909 | 3179 | OMIM:616367 | Mandibulofacial dysostosis with alopecia | . | | | 3 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 20 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 158 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 199 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 199 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040283 - Occasional | | | 55 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040283 - Occasional | | | 55 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | FGF10 CL E G H | 2255 | 3666 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 17 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 175 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:149730 | Lacrimoauriculodentodigital syndrome | . | | | 145 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | FLII CL E G H | 2314 | 3750 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | IQSEC2 CL E G H | 23096 | 29059 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 119 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | LEMD2 CL E G H | 221496 | 21244 | OMIM:619322 | MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS | | | | 1 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | RAI1 CL E G H | 10743 | 9834 | ORPHA:819 | Smith-Magenis syndrome | HP:0040281 - Very frequent | | | 150 | | |
HP:0000680 | HP:0000680 | Delayed eruption of primary teeth | 0 | RUNX2 CL E G H | 860 | 10472 | OMIM:119600 | Cleidocranial dysplasia | . | | | 90 | | |