Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | ARHGAP26 CL E G H | 23092 | 17073 | OMIM:607785 | Juvenile myelomonocytic leukemia | | | | 12 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 145 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | CBL CL E G H | 867 | 1541 | OMIM:607785 | Juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | | | | 317 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | DNMT3A CL E G H | 1788 | 2978 | ORPHA:404443 | Tatton-Brown-Rahman syndrome | HP:0040284 - Very rare | | | 44 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | F13A1 CL E G H | 2162 | 3531 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 60 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | F13B CL E G H | 2165 | 3534 | ORPHA:331 | Congenital factor XIII deficiency | HP:0040284 - Very rare | | | 32 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 327 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:607785 | Juvenile myelomonocytic leukemia | | | | 1952 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | | | | 102 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:607785 | Juvenile myelomonocytic leukemia | | | | 291 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | | | | 4 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | | | | 4 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | SETBP1 CL E G H | 26040 | 15573 | ORPHA:798 | Schinzel-Giedion syndrome | HP:0040284 - Very rare | | | 143 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 1 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | TERC CL E G H | 7012 | 11727 | OMIM:614743 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 | . | | | 48 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0012324 | HP:0012324 | Myeloid leukemia | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040281 - Very frequent | | | 3 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | ARHGAP26 CL E G H | 23092 | 17073 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 12 | | |
HP:0012324 | HP:0012325 | Chronic myelomonocytic leukemia | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | CBL CL E G H | 867 | 1541 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012324 | HP:0004820 | Acute myelomonocytic leukemia | 1 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0012324 | HP:0012325 | Chronic myelomonocytic leukemia | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | NF1 CL E G H | 4763 | 7765 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 1952 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | . | | | 102 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 291 | | |
HP:0012324 | HP:0012209 | Juvenile myelomonocytic leukemia | 1 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |
HP:0012324 | HP:0004820 | Acute myelomonocytic leukemia | 1 | SAMD9L CL E G H | 219285 | 1349 | OMIM:159550 | Ataxia-Pancytopenia syndrome | . | | | 4 | | |
HP:0012324 | HP:0004820 | Acute myelomonocytic leukemia | 1 | SAMD9L CL E G H | 219285 | 1349 | ORPHA:2585 | Ataxia-pancytopenia syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0012324 | HP:0012325 | Chronic myelomonocytic leukemia | 1 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0012324 | HP:0012325 | Chronic myelomonocytic leukemia | 1 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |