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:0031292 | HP:0031292 | Cutaneous abscess | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | | | | 109 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | | | | 50 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | | | | 79 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IL6R CL E G H | 3570 | 6019 | OMIM:618944 | HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE; HIES5 | | | | 1 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | IL6ST CL E G H | 3572 | 6021 | OMIM:619752 | HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | | | | 17 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | OTULIN CL E G H | 90268 | 25118 | OMIM:619986 | | | | | 3 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040281 - Very frequent | | | 15 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | PSENEN CL E G H | 55851 | 30100 | OMIM:613736 | Acne inversa, familial, 2, with or without dowling-degos disease | | | | 2 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | STAT3 CL E G H | 6774 | 11364 | OMIM:147060 | Hyper-IgE recurrent infection syndrome | | | | 110 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031292 | HP:0031292 | Cutaneous abscess | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0031292 | HP:0010771 | Pilonidal abscess | 1 | CL E G H | | | | | | | | | | |
HP:0031292 | 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:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040283 - Occasional | | | 79 | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | ELF4 CL E G H | 2000 | 3319 | OMIM:301074 | AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2; AIFBL2 | | | | 1 | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | G6PC3 CL E G H | 92579 | 24861 | OMIM:612541 | Neutropenia, severe congenital, 4, autosomal recessive | | | | 37 | | |
HP:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | IKZF3 CL E G H | 22806 | 13178 | OMIM:619437 | IMMUNODEFICIENCY 84; IMD84 | | | | | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | IL10RA CL E G H | 3587 | 5964 | OMIM:613148 | INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28 | | | | 64 | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | IL10RB CL E G H | 3588 | 5965 | OMIM:612567 | INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE; IBD25 | | | | 29 | | |
HP:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | LCP2 CL E G H | 3937 | 6529 | OMIM:619374 | IMMUNODEFICIENCY 81; IMD81 | | | | | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | MNX1 CL E G H | 3110 | 4979 | OMIM:176450 | Currarino syndrome | . | | | 17 | | |
HP:0031292 | HP:0100838 | Recurrent cutaneous abscess formation | 1 | PSEN1 CL E G H | 5663 | 9508 | OMIM:613737 | Acne inversa, familial, 3 | | | | 241 | | |
HP:0031292 | 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:0031292 | HP:0009789 | Perianal abscess | 1 | RIPK1 CL E G H | 8737 | 10019 | OMIM:618108 | IMMUNODEFICIENCY 57; IMD57 | | | | | | |
HP:0031292 | HP:0009789 | Perianal abscess | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:618213 | INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY; IBDIMDE | | | | 13 | | |
HP:0031292 | 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 | | |