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:0004429 | HP:0004429 | Recurrent viral infections | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | BTD CL E G H | 686 | 1122 | ORPHA:79241 | Biotinidase deficiency | HP:0040283 - Occasional | | | 223 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CD8A CL E G H | 925 | 1706 | OMIM:608957 | Cd8 deficiency, familial | . | | | 4 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CIITA CL E G H | 4261 | 7067 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 118 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CLPB CL E G H | 81570 | 30664 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040281 - Very frequent | | | 38 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CTPS1 CL E G H | 1503 | 2519 | OMIM:615897 | IMMUNODEFICIENCY 24; IMD24 | | | | 2 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:300645 | Atypical mycobacteriosis, familial, X-linked 2 | | | | 111 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | OMIM:603554 | Omenn syndrome | . | | | 94 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DEF6 CL E G H | 50619 | 2760 | OMIM:619573 | IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87 | | | | | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | . | | | 217 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040281 - Very frequent | | | 79 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | FLI1 CL E G H | 2313 | 3749 | OMIM:617443 | Bleeding disorder, platelet-type, 21 | HP:0040284 - Very rare | | | 8 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | GFI1 CL E G H | 2672 | 4237 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040281 - Very frequent | | | 56 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | | | | 7 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IL2RA CL E G H | 3559 | 6008 | OMIM:606367 | IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41 | | | | 65 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | | | | 48 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IL7R CL E G H | 3575 | 6024 | ORPHA:169154 | T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency | HP:0040282 - Frequent | | | 94 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | IRF9 CL E G H | 10379 | 6131 | OMIM:618648 | IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS; IMD65 | | | | | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | JAK1 CL E G H | 3716 | 6190 | OMIM:618999 | AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE | | | | 12 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 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:0004429 | HP:0004429 | Recurrent viral infections | 0 | MALT1 CL E G H | 10892 | 6819 | OMIM:615468 | Immunodeficiency 12 | . | | | 6 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | MCM4 CL E G H | 4173 | 6947 | OMIM:609981 | Immunodeficiency 54 | | | | 69 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | NHEJ1 CL E G H | 79840 | 25737 | ORPHA:169079 | Cernunnos-XLF deficiency | HP:0040283 - Occasional | | | 20 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040282 - Frequent | | | 15 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | | | | 52 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RAG1 CL E G H | 5896 | 9831 | OMIM:603554 | Omenn syndrome | . | | | 127 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 127 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RAG2 CL E G H | 5897 | 9832 | OMIM:603554 | Omenn syndrome | . | | | 50 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040281 - Very frequent | | | 50 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RALGAPA1 CL E G H | 253959 | 17770 | OMIM:618797 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT | | | | 1 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFX5 CL E G H | 5993 | 9986 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 38 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFXANK CL E G H | 8625 | 9987 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 26 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFXAP CL E G H | 5994 | 9988 | OMIM:209920 | Bare lymphocyte syndrome, type II | . | | | 34 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | | | | 37 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040281 - Very frequent | | | | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:613796 | Mycobacterial and viral infections, susceptibility to, autosomal recessive | . | | | 89 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | STK4 CL E G H | 6789 | 11408 | OMIM:614868 | T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS | . | | | 4 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:486 | Autosomal dominant severe congenital neutropenia | HP:0040281 - Very frequent | | | 82 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | TYK2 CL E G H | 7297 | 12440 | OMIM:611521 | Immunodeficiency 35 | | | | 77 | | |
HP:0004429 | HP:0004429 | Recurrent viral infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0004429 | HP:0011371 | Recurrent viral skin infections | 1 | CL E G H | | | | | | | | | | |
HP:0004429 | HP:0005396 | Susceptibility to coronavirus 229e | 1 | CL E G H | | | | | | | | | | |
HP:0004429 | HP:0005428 | Severe recurrent varicella | 1 | ARHGEF1 CL E G H | 9138 | 681 | OMIM:618459 | Immunodeficiency 62 | | | | | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | . | | | 109 | | |
HP:0004429 | HP:0005428 | Severe recurrent varicella | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:300645 | Atypical mycobacteriosis, familial, X-linked 2 | . | | | 111 | | |
HP:0004429 | HP:0033166 | Recurrent viral upper respiratory tract infections | 1 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0004429 | HP:0033214 | Recurrent viral pneumonia | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004429 | HP:0033166 | Recurrent viral upper respiratory tract infections | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:619773 | IMMUNODEFICIENCY 95; IMD95 | | | | 28 | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0004429 | HP:0005428 | Severe recurrent varicella | 1 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0004429 | HP:0033166 | Recurrent viral upper respiratory tract infections | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | RAG1 CL E G H | 5896 | 9831 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 127 | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | RAG2 CL E G H | 5897 | 9832 | ORPHA:331206 | Severe combined immunodeficiency due to complete RAG1/2 deficiency | HP:0040282 - Frequent | | | 50 | | |
HP:0004429 | HP:0005360 | Susceptibility to chickenpox | 1 | RMRP CL E G H | 6023 | 10031 | OMIM:250250 | Cartilage-Hair hypoplasia | . | | | 37 | | |
HP:0004429 | HP:0002743 | Recurrent enteroviral infections | 1 | SP110 CL E G H | 3431 | 5401 | ORPHA:79124 | Hepatic veno-occlusive disease-immunodeficiency syndrome | HP:0040282 - Frequent | | | 49 | | |
HP:0004429 | HP:0003729 | Enteroviral dermatomyositis syndrome | 2 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0004429 | HP:0003729 | Enteroviral dermatomyositis syndrome | 2 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | . | | | 109 | | |