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:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | . | | | 7 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | CTCF CL E G H | 10664 | 13723 | ORPHA:363611 | CTCF-related neurodevelopmental disorder | HP:0040282 - Frequent | | | 20 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | FARS2 CL E G H | 10667 | 21062 | ORPHA:466722 | Autosomal recessive spastic paraplegia type 77 | HP:0040283 - Occasional | | | 36 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:257850 | Oculodentodigital dysplasia, autosomal recessive | . | | | 68 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0000675 | HP:0000675 | Macrodontia of permanent maxillary central incisor | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |