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:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | ALPL CL E G H | 249 | 438 | OMIM:146300 | Hypophosphatasia, adult | . | | | 126 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | ALPL CL E G H | 249 | 438 | OMIM:241510 | Hypophosphatasia, childhood | . | | | 126 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | CLCN7 CL E G H | 1186 | 2025 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 102 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | CSTB CL E G H | 1476 | 2482 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 51 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | EDAR CL E G H | 10913 | 2895 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 86 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | EDARADD CL E G H | 128178 | 14341 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 56 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | . | | | 111 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040281 - Very frequent | | | 68 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | KDF1 CL E G H | 126695 | 26624 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 1 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | PRKD1 CL E G H | 5587 | 9407 | OMIM:617364 | Congenital heart defects and ectodermal dysplasia | . | | | 7 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | SNX10 CL E G H | 29887 | 14974 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 2 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | TNFSF11 CL E G H | 8600 | 11926 | ORPHA:667 | Autosomal recessive malignant osteopetrosis | HP:0040281 - Very frequent | | | 44 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | TRAF6 CL E G H | 7189 | 12036 | ORPHA:1810 | Autosomal dominant hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040282 - Frequent | | | 104 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:248 | Autosomal recessive hypohidrotic ectodermal dysplasia | HP:0040281 - Very frequent | | | 71 | | |
HP:0006323 | HP:0006323 | Premature loss of primary teeth | 0 | WNT10A CL E G H | 80326 | 13829 | ORPHA:50944 | Schöpf-Schulz-Passarge syndrome | HP:0040282 - Frequent | | | 71 | | |