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:0002863 | HP:0002863 | Myelodysplasia | 0 | ADA2 CL E G H | 51816 | 1839 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ADH5 CL E G H | 128 | 253 | OMIM:619151 | AMED SYNDROME, DIGENIC; AMEDS | | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:614286 | Myelodysplastic syndrome | . | | | 145 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ATRX CL E G H | 546 | 886 | OMIM:300448 | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME; ATMDS | | | | 169 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ATRX CL E G H | 546 | 886 | ORPHA:231401 | Alpha-thalassemia-myelodysplastic syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 276 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BRCA1 CL E G H | 672 | 1100 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 5769 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BRCA2 CL E G H | 675 | 1101 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 7642 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BRIP1 CL E G H | 83990 | 20473 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1086 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CALR CL E G H | 811 | 1455 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 289 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 17 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 833 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 38 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | CSF3R CL E G H | 1441 | 2439 | OMIM:162830 | Neutrophilia, hereditary | . | | | 34 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | DDX41 CL E G H | 51428 | 18674 | OMIM:616871 | Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to | | | | 23 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | DKC1 CL E G H | 1736 | 2890 | OMIM:305000 | Dyskeratosis congenita, X-linked | . | | | 65 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 5 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 158 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCA CL E G H | 2175 | 3582 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 340 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCB CL E G H | 2187 | 3583 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 58 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCC CL E G H | 2176 | 3584 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 410 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCD2 CL E G H | 2177 | 3585 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 147 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCE CL E G H | 2178 | 3586 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCF CL E G H | 2188 | 3587 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 87 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCG CL E G H | 2189 | 3588 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 73 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCG CL E G H | 2189 | 3588 | OMIM:614082 | FANCONI ANEMIA, COMPLEMENTATION GROUP G; FANCG | | | | 73 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCI CL E G H | 55215 | 25568 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 157 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCL CL E G H | 55120 | 20748 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 53 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | FANCM CL E G H | 57697 | 23168 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 107 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 29 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614038 | Lymphedema, primary, with myelodysplasia | . | | | 137 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614286 | Myelodysplastic syndrome | . | | | 137 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GATA2 CL E G H | 2624 | 4171 | ORPHA:98827 | Unclassified myelodysplastic syndrome | HP:0040281 - Very frequent | | | 137 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 56 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GINS1 CL E G H | 9837 | 28980 | OMIM:617827 | Immunodeficiency 55 | . | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | GNB1 CL E G H | 2782 | 4396 | OMIM:614286 | Myelodysplastic syndrome | . | | | 12 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | H4C9 CL E G H | 8294 | 4793 | OMIM:619951 | | | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | HAX1 CL E G H | 10456 | 16915 | OMIM:610738 | NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE; SCN3 | | | | 32 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 57 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 57 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | JAK2 CL E G H | 3717 | 6192 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 57 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | LIG4 CL E G H | 3981 | 6601 | OMIM:606593 | Lig4 syndrome | . | | | 88 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | MAD2L2 CL E G H | 10459 | 6764 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | MDM2 CL E G H | 4193 | 6973 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 97 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 97 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | MPL CL E G H | 4352 | 7217 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 97 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 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:0002863 | HP:0002863 | Myelodysplasia | 0 | NAGS CL E G H | 162417 | 17996 | ORPHA:927 | Hyperammonemia due to N-acetylglutamate synthase deficiency | HP:0040284 - Very rare | | | 36 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | NBEAL2 CL E G H | 23218 | 31928 | ORPHA:721 | Gray platelet syndrome | HP:0040282 - Frequent | | | 127 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:97685 | 17q11 microdeletion syndrome | HP:0040284 - Very rare | | | 1952 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | PALB2 CL E G H | 79728 | 26144 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 1349 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | PTPN11 CL E G H | 5781 | 9644 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 291 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RAD51 CL E G H | 5888 | 9817 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 9 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RAD51C CL E G H | 5889 | 9820 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 391 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RAF1 CL E G H | 5894 | 9829 | ORPHA:500 | Noonan syndrome with multiple lentigines | HP:0040283 - Occasional | | | 212 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RFWD3 CL E G H | 55159 | 25539 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RFWD3 CL E G H | 55159 | 25539 | OMIM:617784 | Fanconi anemia, complementation group W | | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPA1 CL E G H | 6117 | 10289 | OMIM:619767 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 6; PFBMFT6 | | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL11 CL E G H | 6135 | 10301 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL15 CL E G H | 6138 | 10306 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL18 CL E G H | 6141 | 10310 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL26 CL E G H | 6154 | 10327 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL27 CL E G H | 6155 | 10328 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL31 CL E G H | 6160 | 10334 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL35 CL E G H | 11224 | 10344 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL35A CL E G H | 6165 | 10345 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 11 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPL5 CL E G H | 6125 | 10360 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 40 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS10 CL E G H | 6204 | 10383 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 26 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS14 CL E G H | 6208 | 10387 | OMIM:153550 | Chromosome 5q deletion syndrome | . | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040281 - Very frequent | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS15A CL E G H | 6210 | 10389 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS17 CL E G H | 6218 | 10397 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 5 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS19 CL E G H | 6223 | 10402 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 42 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS19 CL E G H | 6223 | 10402 | OMIM:105650 | Diamond-Blackfan anemia 1 | . | | | 42 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS20 CL E G H | 6224 | 10405 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS24 CL E G H | 6229 | 10411 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 22 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS26 CL E G H | 6231 | 10414 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS27 CL E G H | 6232 | 10416 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS28 CL E G H | 6234 | 10418 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS29 CL E G H | 6235 | 10419 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RPS7 CL E G H | 6201 | 10440 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 20 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | RUNX1 CL E G H | 861 | 10471 | OMIM:601399 | Platelet disorder, familial, with associated myeloid malignancy | . | | | 181 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:617053 | Mirage syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SAMD9 CL E G H | 54809 | 1348 | OMIM:619041 | MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2; M7MLS2 | | | | 8 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:252270 | Myelodysplasia and leukemia syndrome with monosomy 7 | | | | 4 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | 26 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | 26 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 19 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SF3B1 CL E G H | 23451 | 10768 | OMIM:614286 | Myelodysplastic syndrome | . | | | 19 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SH2B3 CL E G H | 10019 | 29605 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 4 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SLX4 CL E G H | 84464 | 23845 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 274 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SMARCD2 CL E G H | 6603 | 11107 | OMIM:617475 | SPECIFIC GRANULE DEFICIENCY 2; SGD2 | | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040282 - Frequent | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | . | | | | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SRP72 CL E G H | 6731 | 11303 | OMIM:614675 | Bone marrow failure syndrome 1 | . | | | 68 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040283 - Occasional | | | 82 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 48 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 238 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | OMIM:614286 | Myelodysplastic syndrome | . | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:729 | Polycythemia vera | HP:0040281 - Very frequent | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | THPO CL E G H | 7066 | 11795 | ORPHA:71493 | Familial thrombocytosis | HP:0040283 - Occasional | | | 23 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:127550 | Dyskeratosis congenita, autosomal dominant, 1 | . | | | 60 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:3318 | Essential thrombocythemia | HP:0040283 - Occasional | | | 911 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:524 | Li-Fraumeni syndrome | HP:0040284 - Very rare | | | 911 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | TSR2 CL E G H | 90121 | 25455 | ORPHA:124 | Blackfan-Diamond anemia | HP:0040283 - Occasional | | | 1 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | UBA1 CL E G H | 7317 | 12469 | OMIM:301054 | VEXAS SYNDROME; VEXAS | | | | 35 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | UBE2T CL E G H | 29089 | 25009 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 2 | | |
HP:0002863 | HP:0002863 | Myelodysplasia | 0 | XRCC2 CL E G H | 7516 | 12829 | ORPHA:84 | Fanconi anemia | HP:0040283 - Occasional | | | 125 | | |
HP:0002863 | HP:0012149 | Bilineage myelodysplasia | 1 | CL E G H | | | | | | | | | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0002863 | HP:0012148 | Multiple lineage myelodysplasia | 1 | GATA2 CL E G H | 2624 | 4171 | ORPHA:98827 | Unclassified myelodysplastic syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0002863 | HP:0012148 | Multiple lineage myelodysplasia | 1 | RPS14 CL E G H | 6208 | 10387 | ORPHA:86841 | Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality | HP:0040283 - Occasional | | | | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 19 | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | | | | 3 | | |
HP:0002863 | HP:0012150 | Single lineage myelodysplasia | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98826 | Refractory anemia | HP:0040282 - Frequent | | | 3 | | |
HP:0002863 | HP:0004828 | Refractory anemia with ringed sideroblasts | 2 | ERBB3 CL E G H | 2065 | 3431 | OMIM:133180 | Erythroleukemia, familial, susceptibility to | | | | 12 | | |
HP:0002863 | HP:0004828 | Refractory anemia with ringed sideroblasts | 2 | HSCB CL E G H | 150274 | 28913 | OMIM:619523 | ANEMIA, SIDEROBLASTIC, 5; SIDBA5 | | | | | | |
HP:0002863 | HP:0004828 | Refractory anemia with ringed sideroblasts | 2 | HSPA9 CL E G H | 3313 | 5244 | OMIM:182170 | ANEMIA, SIDEROBLASTIC, 4; SIDBA4 | | | | 6 | | |
HP:0002863 | HP:0004828 | Refractory anemia with ringed sideroblasts | 2 | SF3B1 CL E G H | 23451 | 10768 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040281 - Very frequent | | | 19 | | |
HP:0002863 | HP:0004828 | Refractory anemia with ringed sideroblasts | 2 | TET2 CL E G H | 54790 | 25941 | ORPHA:75564 | Acquired idiopathic sideroblastic anemia | HP:0040281 - Very frequent | | | 3 | | |