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:0001882 | HP:0001882 | Leukopenia | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | AK2 CL E G H | 204 | 362 | OMIM:267500 | Reticular dysgenesia | | | | 19 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | AK2 CL E G H | 204 | 362 | ORPHA:33355 | Reticular dysgenesis | HP:0040281 - Very frequent | | | 19 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ARHGAP31 CL E G H | 57514 | 29216 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 147 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ATP6AP1 CL E G H | 537 | 868 | OMIM:300972 | IMMUNODEFICIENCY 47; IMD47 | | | | 5 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BCOR CL E G H | 54880 | 20893 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 101 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BLOC1S6 CL E G H | 26258 | 8549 | OMIM:614171 | Hermansky-Pudlak syndrome 9 | . | | | 35 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 5769 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 7642 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1086 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | CLPB CL E G H | 81570 | 30664 | OMIM:616271 | 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia | | | | 38 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | CTLA4 CL E G H | 1493 | 2505 | OMIM:152700 | Systemic lupus erythematosus | . | | | 10 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DLL4 CL E G H | 54567 | 2910 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DNASE1 CL E G H | 1773 | 2956 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | DOCK6 CL E G H | 57572 | 19189 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | EOGT CL E G H | 285203 | 28526 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 158 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ERCC6L2 CL E G H | 375748 | 26922 | OMIM:615715 | Bone marrow failure syndrome 2 | . | | | 4 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 340 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 58 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 410 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 147 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 87 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCF CL E G H | 2188 | 3587 | OMIM:603467 | FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF | | | | 87 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 73 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 157 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 53 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 107 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:152700 | Systemic lupus erythematosus | . | | | 6 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FCGR2B CL E G H | 2213 | 3618 | OMIM:152700 | Systemic lupus erythematosus | . | | | 2 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FIP1L1 CL E G H | 81608 | 19124 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | FOCAD CL E G H | 54914 | 23377 | OMIM:619991 | | | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | . | | | 37 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 29 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | GBA1 CL E G H | 2629 | 4177 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040282 - Frequent | | | 2 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | HMGCL CL E G H | 3155 | 5005 | ORPHA:20 | 3-hydroxy-3-methylglutaric aciduria | HP:0040283 - Occasional | | | 35 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | IRAK1 CL E G H | 3654 | 6112 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | IRF2BP2 CL E G H | 359948 | 21729 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 4 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ISCU CL E G H | 23479 | 29882 | OMIM:255125 | Myopathy with exercise intolerance, Swedish type | | | | 19 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | IVD CL E G H | 3712 | 6186 | OMIM:243500 | Isovaleric acidemia | . | | | 105 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | LIPA CL E G H | 3988 | 6617 | OMIM:278000 | Lysosomal acid lipase deficiency | | | | 73 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | . | | | 239 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | MMUT CL E G H | 4594 | 7526 | OMIM:251000 | Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency | . | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | MYSM1 CL E G H | 114803 | 29401 | OMIM:618116 | Bone marrow failure syndrome 4 | . | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | MYSM1 CL E G H | 114803 | 29401 | ORPHA:508542 | Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome | HP:0040282 - Frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | NABP1 CL E G H | 64859 | 26232 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | NOTCH1 CL E G H | 4851 | 7881 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 452 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | NUMA1 CL E G H | 4926 | 8059 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | OTUD5 CL E G H | 55593 | 25402 | OMIM:301056 | MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND | | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 1349 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PIGA CL E G H | 5277 | 8957 | ORPHA:447 | Paroxysmal nocturnal hemoglobinuria | HP:0040283 - Occasional | | | 46 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PML CL E G H | 5371 | 9113 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PRF1 CL E G H | 5551 | 9360 | OMIM:603553 | Hemophagocytic lymphohistiocytosis, familial, 2 | . | | | 58 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PRKAR1A CL E G H | 5573 | 9388 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 134 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | PTPN22 CL E G H | 26191 | 9652 | OMIM:152700 | Systemic lupus erythematosus | . | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 391 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RARA CL E G H | 5914 | 9864 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 2 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RBPJ CL E G H | 3516 | 5724 | ORPHA:974 | Adams-Oliver syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL35A CL E G H | 6165 | 10345 | OMIM:612528 | Diamond-Blackfan anemia 5 | | | | 11 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | RTEL1 CL E G H | 51750 | 15888 | OMIM:615190 | Dyskeratosis congenita, autosomal recessive 5 | . | | | 77 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SARS2 CL E G H | 54938 | 17697 | OMIM:613845 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome | . | | | 60 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SCARB2 CL E G H | 950 | 1665 | ORPHA:77259 | Gaucher disease type 1 | HP:0040283 - Occasional | | | 77 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SLC7A7 CL E G H | 9056 | 11065 | ORPHA:470 | Lysinuric protein intolerance | HP:0040282 - Frequent | | | 104 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SLC7A7 CL E G H | 9056 | 11065 | OMIM:222700 | Lysinuric protein intolerance | . | | | 104 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 274 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SPP1 CL E G H | 6696 | 11255 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 110 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:93552 | Pediatric systemic lupus erythematosus | HP:0040282 - Frequent | | | 2 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | STAT5B CL E G H | 6777 | 11367 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 12 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TBL1XR1 CL E G H | 79718 | 29529 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 22 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TBXAS1 CL E G H | 6916 | 11609 | OMIM:231095 | Ghosal hematodiaphyseal dysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:613989 | Dyskeratosis congenita, autosomal dominant 2 | . | | | 238 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:1328 | Camurati-Engelmann disease | HP:0040283 - Occasional | | | 13 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301080 | | | | | | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:152700 | Systemic lupus erythematosus | . | | | 56 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040283 - Occasional | | | 41 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | VPS13B CL E G H | 157680 | 2183 | OMIM:216550 | Cohen syndrome | . | | | 546 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | VPS45 CL E G H | 11311 | 14579 | OMIM:615285 | Neutropenia, severe congenital, 5, autosomal recessive | . | | | 7 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040281 - Very frequent | | | 125 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ZBTB16 CL E G H | 7704 | 12930 | ORPHA:520 | Acute promyelocytic leukemia | HP:0040282 - Frequent | | | 1 | | |
HP:0001882 | HP:0001882 | Leukopenia | 0 | ZNF699 CL E G H | 374879 | 24750 | OMIM:619488 | DEGCAGS SYNDROME; DEGCAGS | | | | | | |