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:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | ARHGAP26 CL E G H | 23092 | 17073 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 12 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | BRAF CL E G H | 673 | 1097 | OMIM:163950 | Noonan syndrome 1 | | | | 276 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | CBL CL E G H | 867 | 1541 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | CBL CL E G H | 867 | 1541 | OMIM:613563 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | . | | | 317 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:609942 | Noonan syndrome 3 | | | | 196 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | MAP2K1 CL E G H | 5604 | 6840 | OMIM:163950 | Noonan syndrome 1 | | | | 134 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | NF1 CL E G H | 4763 | 7765 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 1952 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:613224 | Noonan syndrome 6 | . | | | 102 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:607785 | Juvenile myelomonocytic leukemia | . | | | 291 | | |
HP:0012209 | HP:0012209 | Juvenile myelomonocytic leukemia | 0 | PTPN11 CL E G H | 5781 | 9644 | OMIM:163950 | Noonan syndrome 1 | | | | 291 | | |