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:0200039 | HP:0200039 | Pustule | 0 | ADAM17 CL E G H | 6868 | 195 | OMIM:614328 | INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1; NISBD1 | | | | 2 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | ADAM17 CL E G H | 6868 | 195 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 2 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | CARD14 CL E G H | 79092 | 16446 | ORPHA:2897 | Pityriasis rubra pilaris | HP:0040283 - Occasional | | | 33 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | CIB1 CL E G H | 10519 | 16920 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0200039 | HP:0200039 | Pustule | 0 | CTSB CL E G H | 1508 | 2527 | ORPHA:50943 | Keratolytic winter erythema | HP:0040283 - Occasional | | | 1 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040281 - Very frequent | | | 50 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040281 - Very frequent | | | 14 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | EGFR CL E G H | 1956 | 3236 | OMIM:616069 | Inflammatory skin and bowel disease, neonatal, 2 | . | | | 257 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | EGFR CL E G H | 1956 | 3236 | ORPHA:294023 | Neonatal inflammatory skin and bowel disease | HP:0040282 - Frequent | | | 257 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:29207 | Reactive arthritis | HP:0040281 - Very frequent | | | 4 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | IL1RN CL E G H | 3557 | 6000 | OMIM:612852 | Interleukin 1 receptor antagonist deficiency | | | | 40 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | IL36RN CL E G H | 26525 | 15561 | OMIM:614204 | PSORIASIS 14, PUSTULAR; PSORS14 | | | | 51 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | IL7 CL E G H | 3574 | 6023 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | | | |
HP:0200039 | HP:0200039 | Pustule | 0 | JAK3 CL E G H | 3718 | 6193 | ORPHA:35078 | T-B+ severe combined immunodeficiency due to JAK3 deficiency | HP:0040283 - Occasional | | | 140 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | LDHA CL E G H | 3939 | 6535 | ORPHA:284426 | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | HP:0040282 - Frequent | | | 35 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | LPIN2 CL E G H | 9663 | 14450 | ORPHA:77297 | Majeed syndrome | HP:0040281 - Very frequent | | | 186 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:3243 | Sweet syndrome | HP:0040283 - Occasional | | | 281 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | MRTFA CL E G H | 57591 | 14334 | OMIM:618847 | IMMUNODEFICIENCY 66; IMD66 | | | | | | |
HP:0200039 | HP:0200039 | Pustule | 0 | PSTPIP1 CL E G H | 9051 | 9580 | ORPHA:69126 | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | HP:0040281 - Very frequent | | | 96 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 67 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 61 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:171876 | Generalized pseudohypoaldosteronism type 1 | HP:0040283 - Occasional | | | 57 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | SLC39A4 CL E G H | 55630 | 17129 | ORPHA:37 | Acrodermatitis enteropathica | HP:0040281 - Very frequent | | | 55 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | STING1 CL E G H | 340061 | 27962 | OMIM:615934 | STING-associated vasculopathy, infantile-onset | | | | | | |
HP:0200039 | HP:0200039 | Pustule | 0 | TMC6 CL E G H | 11322 | 18021 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 10 | | |
HP:0200039 | HP:0200039 | Pustule | 0 | TMC8 CL E G H | 147138 | 20474 | ORPHA:302 | Epidermodysplasia verruciformis | HP:0040281 - Very frequent | | | 4 | | |
HP:0200039 | HP:0100847 | Palmoplantar pustulosis | 1 | CL E G H | | | | | | | | | | |