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:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | | | | 150 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | | | | 101 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | | | | 39 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | | | | 86 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | | | | 57 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | | | | 51 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | | | | 4 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | | | | 239 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | | | | 32 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | | | | | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | | | | 3 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 58 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | | | | 134 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | | | | 2 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | | | | 109 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | | | | 104 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | | | | 228 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | | | | 156 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | | | | 110 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | | | | 12 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 85 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 70 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | | | | 22 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | | | | 116 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0011898 | HP:0011898 | Abnormality of circulating fibrinogen | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | | | | 1 | | |
HP:0011898 | HP:0034422 | Cryofibrinogenemia | 1 | CL E G H | | | | | | | | | | |
HP:0011898 | HP:0011901 | Dysfibrinogenemia | 1 | CL E G H | | | | | | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 101 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | CD46 CL E G H | 4179 | 6953 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | CFH CL E G H | 3075 | 4883 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 86 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | CFI CL E G H | 3426 | 5394 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | 57 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0011898 | HP:0034287 | Afibrinogenemia | 1 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 47 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | FGA CL E G H | 2243 | 3661 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 47 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 62 | | |
HP:0011898 | HP:0034287 | Afibrinogenemia | 1 | FGB CL E G H | 2244 | 3662 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 62 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | . | | | 34 | | |
HP:0011898 | HP:0034287 | Afibrinogenemia | 1 | FGG CL E G H | 2266 | 3694 | OMIM:202400 | Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included | | | | 34 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | GNA14 CL E G H | 9630 | 4382 | ORPHA:1063 | Tufted angioma | HP:0040283 - Occasional | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | HELLPAR CL E G H | 101101692 | 43984 | ORPHA:244242 | HELLP syndrome | HP:0040282 - Frequent | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 4 | | |
HP:0011898 | HP:0011899 | Hyperfibrinogenemia | 1 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | | | | 114 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040283 - Occasional | | | 239 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | NGLY1 CL E G H | 55768 | 17646 | ORPHA:404454 | Alacrimia-choreoathetosis-liver dysfunction syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 3 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 58 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 134 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 2 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | SLC37A4 CL E G H | 2542 | 4061 | OMIM:619525 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W | | | | 110 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040283 - Occasional | | | 104 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 110 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 12 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 85 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 70 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 22 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040282 - Frequent | | | 116 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | UNC13D CL E G H | 201294 | 23147 | OMIM:608898 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3 | | | | 116 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |
HP:0011898 | HP:0011900 | Hypofibrinogenemia | 1 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040283 - Occasional | | | 1 | | |