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:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | | | | 254 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | | | | 76 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | | | | 404 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | | | | 49 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | | | | 49 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2028 | Juvenile hyaline fibromatosis | | | | 49 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | | | | 29 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | | | | 42 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | | | | 15 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 15 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | | | | 147 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | | | | 33 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | | | | 83 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 102 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 38 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | | | | 9 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | | | | 749 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:170650 | Periodontitis, aggressive, 1 | | | | 50 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | | | | 747 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 14 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 79 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | | | | 5 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | | | | 33 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | | | | 33 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | | | | 60 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | | | | 32 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | | | | 44 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | | | | 159 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | | | | 70 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | | | | 303 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | | | | 16 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | | | | 35 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | | | | 35 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | | | | 114 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | | | | 136 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98880 | Familial afibrinogenemia | | | | 47 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98881 | Familial dysfibrinogenemia | | | | 47 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:101041 | Familial hypofibrinogenemia | | | | 47 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98880 | Familial afibrinogenemia | | | | 62 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98881 | Familial dysfibrinogenemia | | | | 62 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:101041 | Familial hypofibrinogenemia | | | | 62 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | | | | 18 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | | | | 175 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | | | | 175 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98880 | Familial afibrinogenemia | | | | 34 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98881 | Familial dysfibrinogenemia | | | | 34 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:101041 | Familial hypofibrinogenemia | | | | 34 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | | | | 111 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 56 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | | | | 120 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | | | | 120 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | | | | 240 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | | | | 52 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | | | | 23 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | | | | 23 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | | | | 21 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | | | | 121 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | | | | 31 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | | | | 115 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | | | | 6 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | | | | 23 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | | | | 23 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | | | | 229 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | | | | 229 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | | | | 69 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | | | | 80 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | | | | 57 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | | | | 167 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | | | | 41 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 56 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | | | | 239 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | | | | 136 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 22 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | | | | 77 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | | | | 462 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | | | | 39 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MMP14 CL E G H | 4323 | 7160 | OMIM:277950 | Winchester syndrome | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | | | | 97 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | | | | 43 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | | | | 43 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | | | | 40 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NGF CL E G H | 4803 | 7808 | ORPHA:64752 | Hereditary sensory and autonomic neuropathy type 5 | HP:0040282 - Frequent | | | 20 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | | | | 144 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:64752 | Hereditary sensory and autonomic neuropathy type 5 | HP:0040282 - Frequent | | | 97 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | | | | 88 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | | | | 73 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | | | | 28 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PERP CL E G H | 64065 | 17637 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | | | | 46 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | | | | 11 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | | | | 11 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | | | | 58 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | | | | 6 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | REST CL E G H | 5978 | 9966 | OMIM:617626 | Fibromatosis, gingival, 5 | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | REST CL E G H | 5978 | 9966 | ORPHA:2024 | Hereditary gingival fibromatosis | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | | | | 37 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | | | | 120 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | | | | 120 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:610455 | Tumoral calcinosis, normophosphatemic, familial | | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | | | | 26 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | | | | 80 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | | | | 77 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040283 - Occasional | | | 143 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | | | | 134 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | | | | 134 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | | | | 78 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | | | | 71 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | | | | 110 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | | | | 12 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | | | | 504 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SOS1 CL E G H | 6654 | 11187 | OMIM:135300 | Fibromatosis, gingival, 1 | | | | 315 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SOS1 CL E G H | 6654 | 11187 | ORPHA:2024 | Hereditary gingival fibromatosis | | | | 315 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | | | | 110 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | | | | 82 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2753 | Orofaciodigital syndrome type 4 | HP:0040281 - Very frequent | | | 31 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | | | | 48 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | | | | 238 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | | | | 3 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TRPV3 CL E G H | 162514 | 18084 | ORPHA:659 | Mutilating palmoplantar keratoderma with periorificial keratotic plaques | HP:0040283 - Occasional | | | 151 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | | | | 1090 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | | | | 2738 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | | | | 6 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | | | | 546 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | | | | 98 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0000168 | HP:0000168 | Abnormality of the gingiva | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0000168 | HP:0012292 | Fusion of gums | 1 | CL E G H | | | | | | | | | | |
HP:0000168 | HP:0025141 | Gingival calcification | 1 | CL E G H | | | | | | | | | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ABCA5 CL E G H | 23461 | 35 | ORPHA:2026 | Gingival fibromatosis-hypertrichosis syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ABCA5 CL E G H | 23461 | 35 | OMIM:135400 | Hypertrichosis terminalis, generalized, with or without gingival hyperplasia | . | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ABCC9 CL E G H | 10060 | 60 | OMIM:239850 | Hypertrichotic osteochondrodysplasia | . | | | 254 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000168 | HP:0000222 | Gingival hyperkeratosis | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ADAMTS3 CL E G H | 9508 | 219 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | AEBP1 CL E G H | 165 | 303 | ORPHA:536532 | Classical-like Ehlers-Danlos syndrome type 2 | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | AGA CL E G H | 175 | 318 | ORPHA:93 | Aspartylglucosaminuria | HP:0040281 - Very frequent | | | 76 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | AIMP2 CL E G H | 7965 | 20609 | OMIM:618006 | Leukodystrophy, hypomyelinating, 17 | . | | | 1 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | ALMS1 CL E G H | 7840 | 428 | OMIM:203800 | Alstrom syndrome | . | | | 404 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ANTXR2 CL E G H | 118429 | 21732 | OMIM:228600 | Hyaline fibromatosis syndrome | . | | | 49 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2028 | Juvenile hyaline fibromatosis | HP:0040283 - Occasional | | | 49 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2028 | Juvenile hyaline fibromatosis | HP:0040283 - Occasional | | | 49 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | AP3B1 CL E G H | 8546 | 566 | OMIM:608233 | Hermansky-Pudlak syndrome 2 | | | | 83 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ATP6V1B2 CL E G H | 526 | 854 | OMIM:616455 | Zimmermann-Laband syndrome 2 | . | | | 5 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | B4GALT7 CL E G H | 11285 | 930 | ORPHA:75496 | B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 29 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 15 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | C1R CL E G H | 715 | 1246 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 15 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | HP:0040283 - Occasional | | | 7 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | . | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | C1S CL E G H | 716 | 1247 | ORPHA:75392 | Periodontal Ehlers-Danlos syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | | | | 5 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | CCBE1 CL E G H | 147372 | 29426 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CD40LG CL E G H | 959 | 11935 | OMIM:308230 | Immunodeficiency, X-linked, with hyper-IgM | . | | | 33 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | CD96 CL E G H | 10225 | 16892 | ORPHA:1308 | C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | CDKN1A CL E G H | 1026 | 1784 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | CDKN1B CL E G H | 1027 | 1785 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 102 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | CDKN2C CL E G H | 1031 | 1789 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 38 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CLTRN CL E G H | 57393 | 29437 | ORPHA:2116 | Hartnup disease | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | CNTNAP1 CL E G H | 8506 | 8011 | OMIM:618186 | Neuropathy, congenital hypomyelinating, 3 | . | | | 9 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:130050 | Ehlers-Danlos syndrome, Vascular type | . | | | 749 | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | COL3A1 CL E G H | 1281 | 2201 | OMIM:618343 | Polymicrogyria with or without vascular-type ehlers-danlos syndrome | | | | 749 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | COL3A1 CL E G H | 1281 | 2201 | ORPHA:286 | Vascular Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 749 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | | | | 50 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:170650 | Periodontitis, aggressive, 1 | | | | 50 | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:170650 | Periodontitis, aggressive, 1 | . | | | 50 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | | | | 9 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 27 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 111 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:618175 | WARBURG-CINOTTI SYNDROME; WRCN | | | | 45 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | DHCR24 CL E G H | 1718 | 2859 | OMIM:602398 | DESMOSTEROLOSIS | | | | 72 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DHCR7 CL E G H | 1717 | 2860 | ORPHA:818 | Smith-Lemli-Opitz syndrome | HP:0040282 - Frequent | | | 159 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | DSP CL E G H | 1832 | 3052 | OMIM:615821 | Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis | . | | | 747 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DVL1 CL E G H | 1855 | 3084 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 14 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DVL1 CL E G H | 1855 | 3084 | OMIM:616331 | Robinow syndrome, autosomal dominant 2 | | | | 14 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DVL3 CL E G H | 1857 | 3087 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | DVL3 CL E G H | 1857 | 3087 | OMIM:616894 | ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3 | | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040282 - Frequent | | | 79 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | ELMO2 CL E G H | 63916 | 17233 | ORPHA:3019 | Ramon syndrome | HP:0040281 - Very frequent | | | 3 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | EMC1 CL E G H | 23065 | 28957 | OMIM:616875 | Cerebellar atrophy, visual impairment, and psychomotor retardation | | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | EMC1 CL E G H | 23065 | 28957 | ORPHA:480898 | Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | EXTL3 CL E G H | 2137 | 3518 | ORPHA:508533 | Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040282 - Frequent | | | 33 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040282 - Frequent | | | 70 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | | | | 16 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FAM20A CL E G H | 54757 | 23015 | ORPHA:1031 | Enamel-renal syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FAM20A CL E G H | 54757 | 23015 | OMIM:204690 | Enamel-Renal syndrome | . | | | 16 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040282 - Frequent | | | 35 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | FAM20C CL E G H | 56975 | 22140 | ORPHA:1832 | Lethal osteosclerotic bone dysplasia | HP:0040282 - Frequent | | | 35 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:2136 | Hennekam syndrome | HP:0040282 - Frequent | | | 114 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040282 - Frequent | | | 136 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | | | | 136 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | FERMT1 CL E G H | 55612 | 15889 | OMIM:173650 | Kindler syndrome | . | | | 136 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGA CL E G H | 2243 | 3661 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGA CL E G H | 2243 | 3661 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGA CL E G H | 2243 | 3661 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGB CL E G H | 2244 | 3662 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGB CL E G H | 2244 | 3662 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGB CL E G H | 2244 | 3662 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FGF3 CL E G H | 2248 | 3681 | ORPHA:2791 | Otodental syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:614592 | Bent bone dysplasia syndrome | . | | | 175 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:313855 | FGFR2-related bent bone dysplasia | HP:0040281 - Very frequent | | | 175 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGG CL E G H | 2266 | 3694 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGG CL E G H | 2266 | 3694 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FGG CL E G H | 2266 | 3694 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 111 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | FZD2 CL E G H | 2535 | 4040 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 56 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GLB1 CL E G H | 2720 | 4298 | ORPHA:79255 | GM1 gangliosidosis type 1 | HP:0040283 - Occasional | | | 120 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230500 | GM1-gangliosidosis, type I | . | | | 120 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GLB1 CL E G H | 2720 | 4298 | OMIM:230600 | Gm1-gangliosidosis, type II | | | | 120 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040281 - Very frequent | | | 240 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | GORAB CL E G H | 92344 | 25676 | OMIM:231070 | Geroderma osteodysplasticum | . | | | 52 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | . | | | 54 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | HIVEP2 CL E G H | 3097 | 4921 | OMIM:616977 | Mental retardation, autosomal dominant 43 | | | | 13 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0000168 | HP:0030690 | Gingival cleft | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 31 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | HYMAI CL E G H | 57061 | 5326 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040282 - Frequent | | | 86 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040282 - Frequent | | | 86 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | IER3IP1 CL E G H | 51124 | 18550 | OMIM:614231 | Microcephaly, epilepsy, and diabetes syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | INSR CL E G H | 3643 | 6091 | OMIM:246200 | Donohue syndrome | . | | | 229 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | . | | | 69 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 69 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | . | | | 114 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 80 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:420561 | Temple-Baraitser syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | KCNH1 CL E G H | 3756 | 6250 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 13 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | KCNH1 CL E G H | 3756 | 6250 | OMIM:135500 | Zimmermann-Laband syndrome 1 | . | | | 13 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNK4 CL E G H | 50801 | 6279 | OMIM:618381 | Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | . | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNMA1 CL E G H | 3778 | 6284 | OMIM:618729 | LIANG-WANG SYNDROME; LIWAS | | | | 114 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | KCNN3 CL E G H | 3782 | 6292 | ORPHA:3473 | Zimmermann-Laband syndrome | HP:0040280 - Obligate | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KCNN3 CL E G H | 3782 | 6292 | OMIM:618658 | ZIMMERMANN-LABAND SYNDROME 3; ZLS3 | | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | KIF7 CL E G H | 374654 | 30497 | OMIM:200990 | Acrocallosal syndrome | | | | 167 | | |
HP:0000168 | HP:0030690 | Gingival cleft | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2189 | Hydrolethalus | HP:0040282 - Frequent | | | 167 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | KRT6A CL E G H | 3853 | 6443 | OMIM:615726 | Pachyonychia congenita 3 | . | | | 41 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | LBR CL E G H | 3930 | 6518 | OMIM:169400 | Pelger-Huet anomaly | | | | 70 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 56 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | LMNB1 CL E G H | 4001 | 6637 | OMIM:619179 | MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26 | | | | 44 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MAN2B1 CL E G H | 4125 | 6826 | OMIM:248500 | Alpha-mannosidosis | . | | | 136 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MAP1B CL E G H | 4131 | 6836 | OMIM:618918 | PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9 | | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 77 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | MEN1 CL E G H | 4221 | 7010 | ORPHA:652 | Multiple endocrine neoplasia type 1 | HP:0040283 - Occasional | | | 462 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MGAT2 CL E G H | 4247 | 7045 | OMIM:212066 | Congenital disorder of glycosylation, type IIa | . | | | 39 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MMP14 CL E G H | 4323 | 7160 | OMIM:277950 | Winchester syndrome | . | | | 2 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040282 - Frequent | | | 9 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 13 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 67 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040283 - Occasional | | | 37 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93400 | Congenital sialidosis type 2 | HP:0040284 - Very rare | | | 43 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NEU1 CL E G H | 4758 | 7758 | ORPHA:93399 | Juvenile sialidosis type 2 | HP:0040283 - Occasional | | | 43 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | . | | | 40 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NFIX CL E G H | 4784 | 7788 | ORPHA:561 | Marshall-Smith syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NFIX CL E G H | 4784 | 7788 | OMIM:614753 | Sotos syndrome 2 | | | | 40 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040281 - Very frequent | | | 138 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | NOTCH3 CL E G H | 4854 | 7883 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 144 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NXN CL E G H | 64359 | 18008 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | NXN CL E G H | 64359 | 18008 | OMIM:618529 | Robinow syndrome, autosomal recessive 2 | . | | | 2 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | OSTM1 CL E G H | 28962 | 21652 | OMIM:259720 | Osteopetrosis, autosomal recessive 5 | . | | | 73 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:2591 | Infantile myofibromatosis | HP:0040282 - Frequent | | | 28 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PIGA CL E G H | 5277 | 8957 | OMIM:301072 | NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH | | | | 46 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PLAGL1 CL E G H | 5325 | 9046 | ORPHA:96191 | Paternal uniparental disomy of chromosome 6 | HP:0040281 - Very frequent | | | | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | PLEKHM1 CL E G H | 9842 | 29017 | OMIM:618107 | OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3 | | | | 2 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | HP:0040282 - Frequent | | | 11 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | HP:0040282 - Frequent | | | 11 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | HP:0040283 - Occasional | | | 11 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | PRMT7 CL E G H | 54496 | 25557 | ORPHA:464288 | Short stature-brachydactyly-obesity-global developmental delay syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | REST CL E G H | 5978 | 9966 | OMIM:617626 | Fibromatosis, gingival, 5 | . | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | REST CL E G H | 5978 | 9966 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 7 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | REST CL E G H | 5978 | 9966 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 7 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | RMRP CL E G H | 6023 | 10031 | ORPHA:175 | Cartilage-hair hypoplasia | HP:0040282 - Frequent | | | 37 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ROR2 CL E G H | 4920 | 10257 | ORPHA:1507 | Autosomal recessive Robinow syndrome | HP:0040282 - Frequent | | | 120 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ROR2 CL E G H | 4920 | 10257 | OMIM:268310 | Robinow syndrome, autosomal recessive | . | | | 120 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | SAMD9 CL E G H | 54809 | 1348 | OMIM:610455 | Tumoral calcinosis, normophosphatemic, familial | . | | | 8 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SATB2 CL E G H | 23314 | 21637 | OMIM:612313 | Glass syndrome | | | | 34 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | 77 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SH3PXD2B CL E G H | 285590 | 29242 | OMIM:249420 | Frank-ter Haar syndrome | . | | | 134 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SH3PXD2B CL E G H | 285590 | 29242 | ORPHA:137834 | Frank-Ter Haar syndrome | HP:0040282 - Frequent | | | 134 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SLC17A5 CL E G H | 26503 | 10933 | OMIM:269920 | Infantile sialic acid storage disease | . | | | 78 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | SLC35C1 CL E G H | 55343 | 20197 | OMIM:266265 | Congenital disorder of glycosylation, type IIc | . | | | 71 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | SLC37A4 CL E G H | 2542 | 4061 | ORPHA:79259 | Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib | HP:0040283 - Occasional | | | 110 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | SLC6A19 CL E G H | 340024 | 27960 | ORPHA:2116 | Hartnup disease | HP:0040283 - Occasional | | | 12 | | |
HP:0000168 | HP:0030690 | Gingival cleft | 1 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:2588 | Myhre syndrome | HP:0040283 - Occasional | | | 504 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | SOS1 CL E G H | 6654 | 11187 | OMIM:135300 | Fibromatosis, gingival, 1 | . | | | 315 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 315 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | SOS1 CL E G H | 6654 | 11187 | ORPHA:2024 | Hereditary gingival fibromatosis | HP:0040281 - Very frequent | | | 315 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040281 - Very frequent | | | 271 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBC1D2B CL E G H | 23102 | 29183 | OMIM:619323 | NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO | | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000230 | Gingivitis | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040282 - Frequent | | | 82 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | . | | | 6 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TRIM8 CL E G H | 81603 | 15579 | OMIM:619428 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND NEURODEVELOPMENTAL SYNDROME; FSGSNEDS | | | | 1 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0000168 | HP:0000169 | Gingival fibromatosis | 1 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | TWIST2 CL E G H | 117581 | 20670 | OMIM:209885 | Barber-Say syndrome | | | | 7 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | HP:0040283 - Occasional | | | 27 | | |
HP:0000168 | HP:0030816 | Gingival recession | 1 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | VPS13B CL E G H | 157680 | 2183 | ORPHA:193 | Cohen syndrome | HP:0040281 - Very frequent | | | 546 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | WNT5A CL E G H | 7474 | 12784 | ORPHA:3107 | Autosomal dominant Robinow syndrome | HP:0040282 - Frequent | | | 98 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | WNT5A CL E G H | 7474 | 12784 | OMIM:180700 | Robinow syndrome, autosomal dominant 1 | . | | | 98 | | |
HP:0000168 | HP:0000704 | Periodontitis | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |
HP:0000168 | HP:0000225 | Gingival bleeding | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040283 - Occasional | | | 362 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040283 - Occasional | | | 362 | | |
HP:0000168 | HP:0000212 | Gingival overgrowth | 1 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000168 | HP:0011059 | Localized periodontitis | 2 | CL E G H | | | | | | | | | | |
HP:0000168 | HP:0011058 | Generalized periodontitis | 2 | CL E G H | | | | | | | | | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | HP:0003593 - Infantile onset | | 50 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | HP:0003593 - Infantile onset | | 50 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CTSC CL E G H | 1075 | 2528 | OMIM:170650 | Periodontitis, aggressive, 1 | . | HP:0003593 - Infantile onset | | 50 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0000168 | HP:0000166 | Severe periodontitis | 2 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |