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:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 18 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 184 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040283 - Occasional | | | 1 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 7 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 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:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 6 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0100721 | HP:0100721 | Mediastinal lymphadenopathy | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | 177 | | |