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:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | | | | 109 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245010 | Haim-Munk syndrome | . | | | 50 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | CYBA CL E G H | 1535 | 2577 | OMIM:233690 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE | . | | | 27 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | . | | | 111 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040282 - Frequent | | | 3 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | GATA1 CL E G H | 2623 | 4170 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 29 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | GJB2 CL E G H | 2706 | 4284 | OMIM:148210 | Keratitis-Ichthyosis-Deafness syndrome, autosomal dominant | . | | | 199 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | HP:0040281 - Very frequent | | | 56 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | IL2RG CL E G H | 3561 | 6010 | ORPHA:276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | HP:0040283 - Occasional | | | 48 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 116 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 167 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | | | | 135 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LYST CL E G H | 1130 | 1968 | ORPHA:167 | Chédiak-Higashi syndrome | HP:0040282 - Frequent | | | 239 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | LYST CL E G H | 1130 | 1968 | OMIM:214500 | Chediak-Higashi syndrome | | | | 239 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | NCF1 CL E G H | 653361 | 7660 | OMIM:233700 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I | . | | | 13 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | NCF2 CL E G H | 4688 | 7661 | OMIM:233710 | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II | . | | | 67 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | UROD CL E G H | 7389 | 12591 | ORPHA:95159 | Hepatoerythropoietic porphyria | HP:0040282 - Frequent | | | 31 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | UROS CL E G H | 7390 | 12592 | ORPHA:79277 | Congenital erythropoietic porphyria | HP:0040282 - Frequent | | | 41 | | |
HP:0005406 | HP:0005406 | Recurrent bacterial skin infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | . | | | 109 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0005406 | HP:0011132 | Chronic furunculosis | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0005406 | HP:0011132 | Chronic furunculosis | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | LAMA3 CL E G H | 3909 | 6483 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 116 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | LAMB3 CL E G H | 3914 | 6490 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 167 | | |
HP:0005406 | HP:0000999 | Pyoderma | 1 | LAMC2 CL E G H | 3918 | 6493 | ORPHA:79404 | Severe generalized junctional epidermolysis bullosa | HP:0040284 - Very rare | | | 135 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0005406 | HP:0011132 | Chronic furunculosis | 1 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0005406 | HP:0011132 | Chronic furunculosis | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | . | | | 241 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0005406 | HP:0011132 | Chronic furunculosis | 1 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | . | | | 2 | | |
HP:0005406 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |