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:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | . | | | 1 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2028 | Juvenile hyaline fibromatosis | HP:0040283 - Occasional | | | 49 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 5 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040282 - Frequent | | | 35 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 13 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 7 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 144 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 28 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | REST CL E G H | 5978 | 9966 | OMIM:617626 | Fibromatosis, gingival, 5 | . | | | 7 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | REST CL E G H | 5978 | 9966 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 7 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:135300 | Fibromatosis, gingival, 1 | . | | | 315 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 315 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0000169 | HP:0000169 | Gingival fibromatosis | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |