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:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 29 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040281 - Very frequent | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040281 - Very frequent | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603902 | BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE | | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040281 - Very frequent | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040283 - Occasional | | | 580 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG1 CL E G H | 3047 | 4831 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 35 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 35 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:141749 | Fetal hemoglobin quantitative trait locus 1 | . | | | 50 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | | | | 42 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | HP:0040281 - Very frequent | | | 42 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 11 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 40 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPL5 CL E G H | 6125 | 10360 | OMIM:612561 | Diamond-Blackfan anemia 6 | | | | 40 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 26 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 5 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 42 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 22 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS24 CL E G H | 6229 | 10411 | OMIM:610629 | Diamond-Blackfan anemia 3 | | | | 22 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 20 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040282 - Frequent | | | 1 | | |
HP:0011904 | HP:0011904 | Persistence of hemoglobin F | 0 | ZBTB7A CL E G H | 51341 | 18078 | OMIM:619769 | MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH | | | | | | |