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:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040284 - Very rare | | | 48 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | ITK CL E G H | 3702 | 6171 | OMIM:613011 | LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1 | | | | 51 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 196 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | . | | | 69 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | MYD88 CL E G H | 4615 | 7562 | OMIM:153600 | Macroglobulinemia, Waldenstrom, somatic | | | | 9 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:614470 | RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | . | | | 102 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | SMARCAL1 CL E G H | 50485 | 11102 | ORPHA:1830 | Schimke immuno-osseous dysplasia | HP:0040284 - Very rare | | | 74 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0005523 | HP:0005523 | Lymphoproliferative disorder | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040284 - Very rare | | | 46 | | |
HP:0005523 | HP:0005508 | Monoclonal immunoglobulin M proteinemia | 1 | MYD88 CL E G H | 4615 | 7562 | OMIM:153600 | Macroglobulinemia, Waldenstrom, somatic | . | | | 9 | | |
HP:0005523 | HP:0005508 | Monoclonal immunoglobulin M proteinemia | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040281 - Very frequent | | | 9 | | |