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:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | | | | 54 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | | | | 184 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | EFEMP2 CL E G H | 30008 | 3219 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 45 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | FBLN5 CL E G H | 10516 | 3602 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | 63 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | GLMN CL E G H | 11146 | 14373 | ORPHA:83454 | Glomuvenous malformation | | | | 37 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | GNPTAB CL E G H | 79158 | 29670 | ORPHA:576 | Mucolipidosis type II | HP:0040282 - Frequent | | | 240 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | | | | 2 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | | | | 7 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | LTBP1 CL E G H | 4052 | 6714 | ORPHA:90349 | Autosomal recessive cutis laxa type 1 | HP:0040282 - Frequent | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 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:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | | | | 220 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | | | | 9 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | | | | 162 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | | | | 80 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | | | | 87 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | | | | 47 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | | | | 22 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | | | | 1 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | | | | 124 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | | | | 238 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | | | | | | |
HP:0045027 | HP:0045027 | Abnormality of the thoracic cavity | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | 177 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | AKT1 CL E G H | 207 | 391 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 54 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | | | | 39 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BAP1 CL E G H | 8314 | 950 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 184 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | | | | 18 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BRD4 CL E G H | 23476 | 13575 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | | | | 40 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | | | | 184 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | GLMN CL E G H | 11146 | 14373 | ORPHA:83454 | Glomuvenous malformation | HP:0040284 - Very rare | | | 37 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | | | | 4 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | | | | 2 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | | | | 2 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | | | | 7 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | | | | 7 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | | | | 6 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NAB2 CL E G H | 4665 | 7627 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NF2 CL E G H | 4771 | 7773 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 220 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | NUTM1 CL E G H | 256646 | 29919 | ORPHA:443167 | NUT midline carcinoma | HP:0040282 - Frequent | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PDGFB CL E G H | 5155 | 8800 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 9 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PIK3CA CL E G H | 5290 | 8975 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 162 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040283 - Occasional | | | 20 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | | | | 3 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | RHBDF2 CL E G H | 79651 | 20788 | ORPHA:2198 | Palmoplantar keratoderma-esophageal carcinoma syndrome | HP:0040282 - Frequent | | | 80 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 87 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 47 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | SMO CL E G H | 6608 | 11119 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 22 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | STAT6 CL E G H | 6778 | 11368 | ORPHA:2126 | Solitary fibrous tumor/hemangiopericytoma | HP:0040284 - Very rare | | | 1 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 124 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | 238 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | TRAF7 CL E G H | 84231 | 20456 | ORPHA:2495 | Meningioma | HP:0040284 - Very rare | | | | | |
HP:0045027 | HP:0045026 | Abnormal mediastinum morphology | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | | | | 177 | | |
HP:0045027 | HP:0034502 | Narrow mediastinum | 2 | CL E G H | | | | | | | | | | |
HP:0045027 | HP:0034501 | Widened mediastinum | 2 | CL E G H | | | | | | | | | | |
HP:0045027 | HP:0025421 | Pneumomediastinum | 2 | CL E G H | | | | | | | | | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040281 - Very frequent | | | 39 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | BCL10 CL E G H | 8915 | 989 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 18 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | BCL2 CL E G H | 596 | 990 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | BCL6 CL E G H | 604 | 1001 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 1 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | BIRC3 CL E G H | 330 | 591 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | BTNL2 CL E G H | 56244 | 1142 | OMIM:612387 | Sarcoidosis, susceptibility to, 2 | | | | 1 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | EIF2AK4 CL E G H | 440275 | 19687 | ORPHA:199241 | Pulmonary capillary hemangiomatosis | HP:0040282 - Frequent | | | 40 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | EIF2AK4 CL E G H | 440275 | 19687 | OMIM:234810 | PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE; PVOD2 | | | | 40 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | EWSR1 CL E G H | 2130 | 3508 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | FOXP1 CL E G H | 27086 | 3823 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 184 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | HLA-B CL E G H | 3106 | 4932 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040283 - Occasional | | | 1 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 2 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 2 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | HLA-DRB1 CL E G H | 3123 | 4948 | OMIM:181000 | Sarcoidosis, susceptibility to, 1 | | | | 2 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | IGH CL E G H | 3492 | 5477 | ORPHA:545 | Follicular lymphoma | HP:0040281 - Very frequent | | | 7 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | IGH CL E G H | 3492 | 5477 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 7 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | IRF4 CL E G H | 3662 | 6119 | ORPHA:3452 | Whipple disease | HP:0040281 - Very frequent | | | 1 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | MALT1 CL E G H | 10892 | 6819 | ORPHA:52417 | MALT lymphoma | HP:0040283 - Occasional | | | 6 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | P4HA2 CL E G H | 8974 | 8547 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | PIK3CG CL E G H | 5294 | 8978 | OMIM:619802 | IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97 | | | | 2 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:397 | Giant cell arteritis | HP:0040283 - Occasional | | | 3 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | RASGRP1 CL E G H | 10125 | 9878 | OMIM:618534 | IMMUNODEFICIENCY 64; IMD64 | | | | | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | TERT CL E G H | 7015 | 11730 | OMIM:614742 | PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1 | | | | 238 | | |
HP:0045027 | HP:0100721 | Mediastinal lymphadenopathy | 2 | WT1 CL E G H | 7490 | 12796 | ORPHA:83469 | Desmoplastic small round cell tumor | HP:0040282 - Frequent | | | 177 | | |