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:0001923 | HP:0001923 | Reticulocytosis | 0 | ABCB6 CL E G H | 10058 | 47 | ORPHA:90044 | Familial pseudohyperkalemia | HP:0040283 - Occasional | | | 20 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | . | | | 76 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | ADAMTS13 CL E G H | 11093 | 1366 | OMIM:274150 | Thrombotic thrombocytopenic purpura, hereditary | . | | | 129 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | ANK1 CL E G H | 286 | 492 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 150 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | ANK1 CL E G H | 286 | 492 | OMIM:182900 | Spherocytosis, type 1 | . | | | 150 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 118 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CDAN1 CL E G H | 146059 | 1713 | OMIM:224120 | Anemia, congenital dyserythropoietic, type Ia | . | | | 86 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CDIN1 CL E G H | 84529 | 26929 | OMIM:615631 | Anemia, congenital dyserythropoietic, type Ib | . | | | | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CFH CL E G H | 3075 | 4883 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | 86 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CFHR1 CL E G H | 3078 | 4888 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CFHR3 CL E G H | 10878 | 16980 | OMIM:235400 | Hemolytic uremic syndrome, atypical, susceptibility to, 1 | . | | | | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CLCN7 CL E G H | 1186 | 2025 | OMIM:611490 | Osteopetrosis, autosomal recessive 4 | . | | | 102 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CPOX CL E G H | 1371 | 2321 | OMIM:618892 | Harderoporphyria | . | | | 72 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040282 - Frequent | | | 273 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | EPB41 CL E G H | 2035 | 3377 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 6 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | EPB42 CL E G H | 2038 | 3381 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 51 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | EPB42 CL E G H | 2038 | 3381 | OMIM:612690 | SPHEROCYTOSIS, TYPE 5; SPH5 | | | | 51 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | G6PD CL E G H | 2539 | 4057 | OMIM:300908 | Anemia, nonspherocytic hemolytic, due to g6pd deficiency | | | | 101 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:301083 | | | | | 29 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | GATA1 CL E G H | 2623 | 4170 | OMIM:314050 | Thrombocytopenia with beta-thalassemia, X-linked | . | | | 29 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:33574 | Glutamate-cysteine ligase deficiency | HP:0040283 - Occasional | | | 2 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | GYPC CL E G H | 2995 | 4704 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 5 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:232 | Sickle cell anemia | HP:0040282 - Frequent | | | 580 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HBG2 CL E G H | 3048 | 4832 | OMIM:613977 | Cyanosis, transient neonatal | HP:0040283 - Occasional | | | 50 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | HK1 CL E G H | 3098 | 4922 | OMIM:235700 | Hemolytic anemia, nonspherocytic, due to hexokinase deficiency | . | | | 11 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 3 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | KCNN4 CL E G H | 3783 | 6293 | OMIM:616689 | Dehydrated hereditary stomatocytosis 2 | . | | | 3 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | KLF1 CL E G H | 10661 | 6345 | OMIM:613673 | Anemia, dyserythropoietic congenital, type IV | . | | | 42 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | MTTP CL E G H | 4547 | 7467 | ORPHA:14 | Abetalipoproteinemia | HP:0040282 - Frequent | | | 81 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PFKM CL E G H | 5213 | 8877 | OMIM:232800 | Glycogen storage disease VII | . | | | 64 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PGK1 CL E G H | 5230 | 8896 | ORPHA:713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | HP:0040282 - Frequent | | | 21 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PGK1 CL E G H | 5230 | 8896 | OMIM:300653 | Phosphoglycerate kinase 1 deficiency | . | | | 21 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PIEZO1 CL E G H | 9780 | 28993 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 36 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:194380 | Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | . | | | 36 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040282 - Frequent | | | 46 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PKLR CL E G H | 5313 | 9020 | ORPHA:766 | Hemolytic anemia due to red cell pyruvate kinase deficiency | HP:0040281 - Very frequent | | | 51 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PKLR CL E G H | 5313 | 9020 | OMIM:266200 | Pyruvate kinase deficiency of red cells | . | | | 51 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RHAG CL E G H | 6005 | 10006 | OMIM:185000 | Overhydrated hereditary stomatocytosis | . | | | 13 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:3203 | Overhydrated hereditary stomatocytosis | HP:0040281 - Very frequent | | | 13 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RHAG CL E G H | 6005 | 10006 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RHCE CL E G H | 6006 | 10008 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | RHD CL E G H | 6007 | 10009 | ORPHA:71275 | Rh deficiency syndrome | HP:0040281 - Very frequent | | | 16 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SEC23B CL E G H | 10483 | 10702 | OMIM:224100 | Anemia, dyserythropoietic congenital, type II | . | | | 60 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC2A1 CL E G H | 6513 | 11005 | OMIM:612126 | Glut1 deficiency syndrome 2 | . | | | 255 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:185020 | CRYOHYDROCYTOSIS | . | | | 109 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:3202 | Dehydrated hereditary stomatocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 109 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:611590 | Renal tubular acidosis, distal, with hemolytic anemia | HP:0040283 - Occasional | | | 109 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SLC4A1 CL E G H | 6521 | 11027 | OMIM:612653 | Spherocytosis, type 4 | . | | | 109 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTA1 CL E G H | 6708 | 11272 | OMIM:130600 | Elliptocytosis 2 | | | | 228 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 228 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTA1 CL E G H | 6708 | 11272 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 228 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:288 | Hereditary elliptocytosis | HP:0040283 - Occasional | | | 156 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTB CL E G H | 6710 | 11274 | ORPHA:822 | Hereditary spherocytosis | HP:0040282 - Frequent | | | 156 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | SPTB CL E G H | 6710 | 11274 | OMIM:616649 | SPHEROCYTOSIS, TYPE 2; SPH2 | | | | 156 | | |
HP:0001923 | HP:0001923 | Reticulocytosis | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |