Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | BCS1L CL E G H | 617 | 1020 | ORPHA:53693 | GRACILE syndrome | HP:0040281 - Very frequent | | | 72 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | BCS1L CL E G H | 617 | 1020 | OMIM:603358 | GRACILE SYNDROME | | | | 72 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | BMP2 CL E G H | 650 | 1069 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 13 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | BMP6 CL E G H | 654 | 1073 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040281 - Very frequent | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | CP CL E G H | 1356 | 2295 | ORPHA:48818 | Aceruloplasminemia | HP:0040281 - Very frequent | | | 115 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | CP CL E G H | 1356 | 2295 | OMIM:604290 | ACERULOPLASMINEMIA | . | | | 115 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | FTH1 CL E G H | 2495 | 3976 | OMIM:615517 | Hemochromatosis, type 5 | . | | | 11 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | FTL CL E G H | 2512 | 3999 | ORPHA:254704 | Genetic hyperferritinemia without iron overload | HP:0040280 - Obligate | | | 33 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | FTL CL E G H | 2512 | 3999 | OMIM:600886 | Hyperferritinemia with or without cataract | | | | 33 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | GLRX5 CL E G H | 51218 | 20134 | OMIM:616860 | Anemia, sideroblastic, 3, pyridoxine-refractory | | | | 17 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HAMP CL E G H | 57817 | 15598 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040281 - Very frequent | | | 15 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HAMP CL E G H | 57817 | 15598 | OMIM:613313 | Hemochromatosis, type 2B | | | | 15 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | . | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231249 | Hemoglobin E-beta-thalassemia syndrome | HP:0040282 - Frequent | | | 580 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HFE CL E G H | 3077 | 4886 | OMIM:235200 | Hemochromatosis, type 1 | . | | | 38 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:465508 | Symptomatic form of hemochromatosis type 1 | HP:0040281 - Very frequent | | | 38 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HJV CL E G H | 148738 | 4887 | ORPHA:79230 | Hemochromatosis type 2 | HP:0040281 - Very frequent | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HJV CL E G H | 148738 | 4887 | OMIM:602390 | Hemochromatosis, type 2A | | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:614034 | HEME OXYGENASE 1 DEFICIENCY; HMOX1D | | | | 3 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:618963 | IMMUNODEFICIENCY 69; IMD69 | | | | 23 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | HP:0040283 - Occasional | | | 36 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040282 - Frequent | | | 51 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PRF1 CL E G H | 5551 | 9360 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 58 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | | | | 58 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | PUS1 CL E G H | 80324 | 15508 | OMIM:600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | . | | | 57 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC25A38 CL E G H | 54977 | 26054 | OMIM:205950 | Anemia, sideroblastic, 2, pyridoxine-refractory | . | | | 41 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC40A1 CL E G H | 30061 | 10909 | ORPHA:139491 | Hemochromatosis type 4 | HP:0040281 - Very frequent | | | 56 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC40A1 CL E G H | 30061 | 10909 | OMIM:606069 | Hemochromatosis, type 4 | | | | 56 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040283 - Occasional | | | 104 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STEAP3 CL E G H | 55240 | 24592 | OMIM:615234 | Anemia, hypochromic microcytic, with iron overload 2 | . | | | 1 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STEAP3 CL E G H | 55240 | 24592 | ORPHA:300298 | Severe congenital hypochromic anemia with ringed sideroblasts | HP:0040281 - Very frequent | | | 1 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STX11 CL E G H | 8676 | 11429 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 85 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STX11 CL E G H | 8676 | 11429 | OMIM:603552 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4 | | | | 85 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STXBP2 CL E G H | 6813 | 11445 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | TFR2 CL E G H | 7036 | 11762 | OMIM:604250 | Hemochromatosis, type 3 | | | | 67 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | TTC26 CL E G H | 79989 | 21882 | OMIM:619534 | BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS | | | | | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | UNC13D CL E G H | 201294 | 23147 | ORPHA:540 | Familial hemophagocytic lymphohistiocytosis | HP:0040281 - Very frequent | | | 116 | | |
HP:0003281 | HP:0003281 | Increased circulating ferritin concentration | 0 | XIAP CL E G H | 331 | 592 | OMIM:300635 | Lymphoproliferative syndrome, X-linked, 2 | | | | 81 | | |