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:0000225 | HP:0000225 | Gingival bleeding | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | BLOC1S3 CL E G H | 388552 | 20914 | OMIM:614077 | Hermansky-Pudlak syndrome 8 | . | | | 42 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | BLOC1S5 CL E G H | 63915 | 18561 | OMIM:619172 | HERMANSKY-PUDLAK SYNDROME 11; HPS11 | | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | C1R CL E G H | 715 | 1246 | OMIM:130080 | Ehlers-Danlos syndrome, periodontal type, 1 | . | | | 15 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | C1S CL E G H | 716 | 1247 | OMIM:617174 | Ehlers-Danlos syndrome, periodontal type, 2 | HP:0040283 - Occasional | | | 7 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | CAT CL E G H | 847 | 1516 | ORPHA:926 | Acatalasemia | HP:0040283 - Occasional | | | 5 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | ELMO2 CL E G H | 63916 | 17233 | OMIM:606893 | Vascular malformation, primary intraosseous | . | | | 3 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F10 CL E G H | 2159 | 3528 | ORPHA:328 | Congenital factor X deficiency | HP:0040282 - Frequent | | | 33 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F10 CL E G H | 2159 | 3528 | OMIM:227600 | Factor X deficiency | . | | | 33 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F13A1 CL E G H | 2162 | 3531 | OMIM:613225 | Factor XIII, A subunit, deficiency of | | | | 60 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040283 - Occasional | | | 32 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F2 CL E G H | 2147 | 3535 | OMIM:613679 | Congenital prothrombin deficiency | . | | | 44 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F5 CL E G H | 2153 | 3542 | ORPHA:326 | Congenital factor V deficiency | HP:0040283 - Occasional | | | 159 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F7 CL E G H | 2155 | 3544 | ORPHA:327 | Congenital factor VII deficiency | HP:0040282 - Frequent | | | 70 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | F8 CL E G H | 2157 | 3546 | ORPHA:169805 | Moderate hemophilia A | HP:0040282 - Frequent | | | 303 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FCGR2C CL E G H | 9103 | 15626 | ORPHA:3002 | Immune thrombocytopenia | HP:0040283 - Occasional | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGA CL E G H | 2243 | 3661 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 47 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGB CL E G H | 2244 | 3662 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 62 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98880 | Familial afibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:98881 | Familial dysfibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FGG CL E G H | 2266 | 3694 | ORPHA:101041 | Familial hypofibrinogenemia | HP:0040281 - Very frequent | | | 34 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP1BA CL E G H | 2811 | 4439 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 23 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:153670 | Bernard-Soulier syndrome, type A2, autosomal dominant | . | | | 23 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP1BA CL E G H | 2811 | 4439 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 23 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP1BB CL E G H | 2812 | 4440 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 8 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP9 CL E G H | 2815 | 4444 | ORPHA:274 | Bernard-Soulier syndrome | HP:0040283 - Occasional | | | 21 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | GP9 CL E G H | 2815 | 4444 | OMIM:231200 | BERNARD-SOULIER SYNDROME; BSS | | | | 21 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | HPS1 CL E G H | 3257 | 5163 | OMIM:203300 | Hermansky-Pudlak syndrome 1 | . | | | 121 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | HPS3 CL E G H | 84343 | 15597 | OMIM:614072 | Hermansky-Pudlak syndrome 3 | | | | 67 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | IFNG CL E G H | 3458 | 5438 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 23 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | IL18BP CL E G H | 10068 | 5987 | OMIM:618549 | HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH | | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | ITGA2B CL E G H | 3674 | 6138 | OMIM:273800 | Glanzmann thrombasthenia | . | | | 69 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | ITGA2B CL E G H | 3674 | 6138 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 69 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | ITGB3 CL E G H | 3690 | 6156 | ORPHA:849 | Glanzmann thrombasthenia | HP:0040282 - Frequent | | | 80 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | KIF23 CL E G H | 9493 | 6392 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | 1 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | LMAN1 CL E G H | 3998 | 6631 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 56 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:352723 | Attenuated Chédiak-Higashi syndrome | HP:0040281 - Very frequent | | | 239 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | MCFD2 CL E G H | 90411 | 18451 | ORPHA:35909 | Combined deficiency of factor V and factor VIII | HP:0040282 - Frequent | | | 77 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040282 - Frequent | | | 9 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | RACGAP1 CL E G H | 29127 | 9804 | ORPHA:98870 | Congenital dyserythropoietic anemia type III | HP:0040283 - Occasional | | | | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040282 - Frequent | | | 77 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | SERPINF2 CL E G H | 5345 | 9075 | ORPHA:79 | Congenital alpha2-antiplasmin deficiency | HP:0040283 - Occasional | | | 8 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 48 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:88 | Idiopathic aplastic anemia | HP:0040283 - Occasional | | | 238 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | . | | | 65 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000225 | HP:0000225 | Gingival bleeding | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |