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:0100825 | HP:0100825 | Cheilitis | 0 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 25 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | | | | 4 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | CLEC7A CL E G H | 64581 | 14558 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 3 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | | | | 273 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | FERMT1 CL E G H | 55612 | 15889 | ORPHA:2908 | Kindler epidermolysis bullosa | HP:0040281 - Very frequent | | | 136 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | IL17F CL E G H | 112744 | 16404 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 14 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | IL17RA CL E G H | 23765 | 5985 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 196 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | IL17RC CL E G H | 84818 | 18358 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | | | | 27 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | | | | 23 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | | | | 41 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | | | | 4 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | PERP CL E G H | 64065 | 17637 | OMIM:619208 | OLMSTED SYNDROME 2; OLMS2 | | | | | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | PKP1 CL E G H | 5317 | 9023 | ORPHA:158668 | Ectodermal dysplasia-skin fragility syndrome | HP:0040283 - Occasional | | | 107 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040282 - Frequent | | | 55 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040281 - Very frequent | | | 101 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |
HP:0100825 | HP:0100825 | Cheilitis | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | ORPHA:1334 | Chronic mucocutaneous candidiasis | HP:0040281 - Very frequent | | | 4 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | AMN CL E G H | 81693 | 14604 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | CAST CL E G H | 831 | 1515 | OMIM:616295 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | . | | | 4 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | CUBN CL E G H | 8029 | 2548 | ORPHA:35858 | Imerslund-Gräsbeck syndrome | HP:0040283 - Occasional | | | 273 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | DSC3 CL E G H | 1825 | 3037 | OMIM:613102 | HYPOTRICHOSIS AND RECURRENT SKIN VESICLES | | | | 2 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | KRT16 CL E G H | 3868 | 6423 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 27 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | KRT17 CL E G H | 3872 | 6427 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 23 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | KRT17 CL E G H | 3872 | 6427 | OMIM:167210 | Pachyonychia congenita 2 | | | | 23 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | KRT6A CL E G H | 3853 | 6443 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 41 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | KRT6B CL E G H | 3854 | 6444 | ORPHA:2309 | Pachyonychia congenita | HP:0040284 - Very rare | | | 4 | | |
HP:0100825 | HP:0030318 | Angular cheilitis | 1 | SREBF1 CL E G H | 6720 | 11289 | OMIM:619016 | IFAP SYNDROME 2; IFAP2 | | | | 1 | | |