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:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 118 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | | | | 27 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | IRAK4 CL E G H | 51135 | 17967 | OMIM:607676 | Immunodeficiency 67 | | | | 58 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | IRAK4 CL E G H | 51135 | 17967 | ORPHA:70592 | Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency | HP:0040281 - Very frequent | | | 58 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | ITGB2 CL E G H | 3689 | 6155 | OMIM:116920 | Leukocyte adhesion deficiency, type I | . | | | 114 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | | | | 13 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | | | | 67 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | | | | 97 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 38 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 26 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | | | | 34 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0007499 | Recurrent staphylococcal infections | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | FCN3 CL E G H | 8547 | 3625 | OMIM:613860 | FICOLIN 3 DEFICIENCY | | | | 1 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | NTRK1 CL E G H | 4914 | 8031 | ORPHA:642 | Hereditary sensory and autonomic neuropathy type 4 | HP:0040281 - Very frequent | | | 97 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | PGM3 CL E G H | 5238 | 8907 | OMIM:615816 | Immunodeficiency 23 | | | | 15 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0007499 | HP:0002726 | Recurrent Staphylococcus aureus infections | 1 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |