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:0012410 | HP:0012410 | Pure red cell aplasia | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | EPO CL E G H | 2056 | 3415 | OMIM:617911 | DIAMOND-BLACKFAN ANEMIA-LIKE; DBAL | | | | 1 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 29 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 11 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 40 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 26 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 5 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 42 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 22 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 20 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | TP53 CL E G H | 7157 | 11998 | OMIM:618165 | Bone marrow failure syndrome 5 | . | | | 911 | | |
HP:0012410 | HP:0012410 | Pure red cell aplasia | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040281 - Very frequent | | | 1 | | |