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:0031691 | HP:0031691 | Severe viral infection | 0 | ADORA2A CL E G H | 135 | 263 | ORPHA:363549 | Acute encephalopathy with biphasic seizures and late reduced diffusion | HP:0040282 - Frequent | | | 1 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | IRF7 CL E G H | 3665 | 6122 | OMIM:616345 | Immunodeficiency 39 | | | | 2 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 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:0031691 | HP:0031691 | Severe viral infection | 0 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:616636 | Immunodeficiency 44 | | | | 9 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | TLR7 CL E G H | 51284 | 15631 | OMIM:301051 | IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74 | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0031691 | HP:0031691 | Severe viral infection | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0031691 | HP:0031695 | Severe parainfluenza infection | 1 | CL E G H | | | | | | | | | | |
HP:0031691 | HP:0031694 | Severe adenovirus infection | 1 | CL E G H | | | | | | | | | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0031691 | HP:0033508 | EBV meningitis | 1 | CD27 CL E G H | 939 | 11922 | OMIM:615122 | Lymphoproliferative syndrome 2 | | | | 4 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | CD70 CL E G H | 970 | 11937 | OMIM:618261 | LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3 | | | | | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0031691 | HP:0031693 | Severe Epstein Barr virus infection | 1 | DNASE2 CL E G H | 1777 | 2960 | OMIM:619858 | | | | | | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | DOCK2 CL E G H | 1794 | 2988 | OMIM:616433 | Immunodeficiency 40 | | | | 6 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | IKBKG CL E G H | 8517 | 5961 | OMIM:300291 | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1; EDAID1 | | | | 52 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0031691 | HP:0034249 | Severe influenza infection | 1 | IRF7 CL E G H | 3665 | 6122 | OMIM:616345 | Immunodeficiency 39 | | | | 2 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 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:0031691 | HP:0031692 | Severe cytomegalovirus infection | 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:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | MCM10 CL E G H | 55388 | 18043 | OMIM:619313 | IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80 | | | | | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0031691 | HP:0034249 | Severe influenza infection | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0031691 | HP:0031693 | Severe Epstein Barr virus infection | 1 | SH2D1A CL E G H | 4068 | 10820 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 37 | | |
HP:0031691 | HP:0032170 | Severe varicella zoster infection | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031691 | HP:0033141 | Severe SARS-CoV-2 infection | 1 | TLR7 CL E G H | 51284 | 15631 | OMIM:301051 | IMMUNODEFICIENCY 74, COVID19-RELATED, X-LINKED; IMD74 | | | | | | |
HP:0031691 | HP:0031692 | Severe cytomegalovirus infection | 1 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |
HP:0031691 | HP:0031693 | Severe Epstein Barr virus infection | 1 | XIAP CL E G H | 331 | 592 | OMIM:308240 | Lymphoproliferative syndrome, X-linked, 1 | | | | 81 | | |
HP:0031691 | HP:0033431 | Cytomegalovirus colitis | 2 | CL E G H | | | | | | | | | | |
HP:0031691 | HP:0032247 | Persistent CMV viremia | 2 | IL2RB CL E G H | 3560 | 6009 | OMIM:618495 | Immunodeficiency 63 with lymphoproliferation and autoimmunity | | | | | | |
HP:0031691 | HP:0032247 | Persistent CMV viremia | 2 | LAT CL E G H | 27040 | 18874 | OMIM:617514 | Immunodeficiency 52 | | | | 2 | | |
HP:0031691 | HP:0032247 | Persistent CMV viremia | 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:0031691 | HP:0032247 | Persistent CMV viremia | 2 | PIK3R1 CL E G H | 5295 | 8979 | OMIM:616005 | Immunodeficiency 36 | | | | 43 | | |
HP:0031691 | HP:0032247 | Persistent CMV viremia | 2 | REL CL E G H | 5966 | 9954 | OMIM:619652 | IMMUNODEFICIENCY 92; IMD92 | | | | 1 | | |
HP:0031691 | HP:0032247 | Persistent CMV viremia | 2 | TPP2 CL E G H | 7174 | 12016 | OMIM:619220 | IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78 | | | | | | |