Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | ALAS2 CL E G H | 212 | 300751 | Hereditary sideroblastic anemia | 300751 | C0221018 | OMIM | 1 | | 342 | 397 | 301300 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | HSPA9 CL E G H | 3313 | 182170 | Anemia, sideroblastic, 4 | 182170 | C2674249 | OMIM | 1 | | 67 | 5244 | 600548 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 1 | | 620 | 17341 | 612907 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001924 | HP:0001924 | Sideroblastic anemia | 0 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | ABCB7 CL E G H | 22 | 301310 | Anemia sideroblastic and spinocerebellar ataxia | 301310 | C1845028 | OMIM | 1 | | 299 | 48 | 300135 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | ALAS2 CL E G H | 212 | 300751 | Hereditary sideroblastic anemia | 300751 | C0221018 | OMIM | 1 | | 342 | 397 | 301300 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | ALAS2 CL E G H | 212 | 300751 | Hereditary sideroblastic anemia | 300751 | C0221018 | OMIM | 1 | | 342 | 397 | 301300 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | HSPA9 CL E G H | 3313 | 182170 | Anemia, sideroblastic, 4 | 182170 | C2674249 | OMIM | 1 | | 67 | 5244 | 600548 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | HSPA9 CL E G H | 3313 | 182170 | Anemia, sideroblastic, 4 | 182170 | C2674249 | OMIM | 1 | | 67 | 5244 | 600548 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | ISCU CL E G H | 23479 | 255125 | Myopathy with lactic acidosis, hereditary | 255125 | C1850718 | OMIM | 1 | | 160 | 29882 | 611911 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | LARS2 CL E G H | 23395 | 617021 | Hydrops, lactic acidosis, and sideroblastic anemia | 617021 | C4310761 | OMIM | 1 | | 416 | 17095 | 604544 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | PUS1 CL E G H | 80324 | 600462 | Myopathy, lactic acidosis, and sideroblastic anemia 1 | 600462 | C1838103 | OMIM | 1 | | 478 | 15508 | 608109 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | SLC19A2 CL E G H | 10560 | 249270 | Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness | 249270 | C0342287 | OMIM | 1 | | 246 | 10938 | 603941 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 1 | | 620 | 17341 | 612907 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | TRNT1 CL E G H | 51095 | 616084 | Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 616084 | C4015172 | OMIM | 1 | | 620 | 17341 | 612907 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | WFS1 CL E G H | 7466 | 222300 | Diabetes mellitus AND insipidus with optic atrophy AND deafness | 222300 | C0043207 | OMIM | 1 | | 1634 | 12762 | 606201 |
HP:0001924 | HP:0005522 | Pyridoxine-responsive sideroblastic anemia | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HP:0001924 | HP:0004864 | Refractory sideroblastic anemia | 1 | YARS2 CL E G H | 51067 | 613561 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | 613561 | C3150802 | OMIM | 1 | | 274 | 24249 | 610957 |
HPO disease - gene - phenotype less frequent non-typical associations: |