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:0001889 | HP:0001889 | Megaloblastic anemia | 0 | AMN CL E G H | 81693 | 14604 | OMIM:618882 | IMERSLUND-GRASBECK SYNDROME 2; IGS2 | | | | 25 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040281 - Very frequent | | | 25 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | CBLIF CL E G H | 2694 | 4268 | OMIM:261000 | Intrinsic factor deficiency | . | | | | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040281 - Very frequent | | | 273 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | CUBN CL E G H | 8029 | 2548 | OMIM:261100 | Megaloblastic anemia 1 | | | | 273 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | DHFR CL E G H | 1719 | 2861 | OMIM:613839 | Megaloblastic anemia due to dihydrofolate reductase deficiency | . | | | 7 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | FTCD CL E G H | 10841 | 3974 | ORPHA:51208 | Formiminoglutamic aciduria | HP:0040283 - Occasional | | | 65 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | FTCD CL E G H | 10841 | 3974 | OMIM:229100 | Formiminotransferase deficiency | . | | | 65 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | HPRT1 CL E G H | 3251 | 5157 | OMIM:300322 | Lesch-Nyhan syndrome | . | | | 76 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | LMBRD1 CL E G H | 55788 | 23038 | ORPHA:79284 | Methylmalonic acidemia with homocystinuria type cblF | HP:0040281 - Very frequent | | | 46 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | LMBRD1 CL E G H | 55788 | 23038 | OMIM:277380 | Methylmalonic aciduria and homocystinuria, Cblf type | . | | | 46 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MMACHC CL E G H | 25974 | 24525 | ORPHA:79282 | Methylmalonic acidemia with homocystinuria, type cblC | HP:0040281 - Very frequent | | | 101 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MMACHC CL E G H | 25974 | 24525 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | 101 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MMADHC CL E G H | 27249 | 25221 | OMIM:277410 | Methylmalonic aciduria and homocystinuria, Cbld type | . | | | 50 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MTHFD1 CL E G H | 4522 | 7432 | OMIM:617780 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | . | | | 5 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MTR CL E G H | 4548 | 7468 | OMIM:250940 | Homocystinuria-megaloblastic anemia, cblg Complementation type | . | | | 217 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | MTRR CL E G H | 4552 | 7473 | OMIM:236270 | Homocystinuria-megaloblastic anemia, cbl E type | . | | | 88 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | PHGDH CL E G H | 26227 | 8923 | ORPHA:79351 | 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 37 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:601815 | Phosphoglycerate dehydrogenase deficiency | . | | | 37 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | PRDX1 CL E G H | 5052 | 9352 | OMIM:277400 | Methylmalonic aciduria and homocystinuria, Cblc type | . | | | | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | | | | 55 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | SLC19A2 CL E G H | 10560 | 10938 | ORPHA:49827 | Thiamine-responsive megaloblastic anemia syndrome | HP:0040281 - Very frequent | | | 55 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | | | | 101 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | | | | 135 | | |
HP:0001889 | HP:0001889 | Megaloblastic anemia | 0 | WFS1 CL E G H | 7466 | 12762 | OMIM:222300 | Wolfram syndrome 1 | . | | | 389 | | |
HP:0001889 | HP:0004851 | Folate-responsive megaloblastic anemia | 1 | SLC19A1 CL E G H | 6573 | 10937 | OMIM:601775 | FOLATE LEVEL IN ERYTHROCYTES | | | | 1 | | |
HP:0001889 | HP:0004860 | Thiamine-responsive megaloblastic anemia | 1 | SLC19A2 CL E G H | 10560 | 10938 | OMIM:249270 | Thiamine-Responsive megaloblastic anemia syndrome | . | | | 55 | | |
HP:0001889 | HP:0004851 | Folate-responsive megaloblastic anemia | 1 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001889 | HP:0004826 | Folate-unresponsive megaloblastic anemia | 1 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | . | | | 135 | | |
HP:0001889 | HP:0003339 | Pyrimidine-responsive megaloblastic anemia | 1 | UMPS CL E G H | 7372 | 12563 | OMIM:258900 | Orotic aciduria | . | | | 135 | | |