Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | ATR CL E G H | 545 | 882 | OMIM:614564 | Cutaneous telangiectasia and cancer syndrome, familial | | | | 168 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | CARD9 CL E G H | 64170 | 16391 | OMIM:212050 | Candidiasis, familial chronic mucocutaneous, autosomal recessive | | | | 45 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | CLEC7A CL E G H | 64581 | 14558 | OMIM:613108 | CANDIDIASIS, FAMILIAL, 4; CANDF4 | | | | 3 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | CYBC1 CL E G H | 79415 | 28672 | OMIM:618935 | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5 | | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | HPGD CL E G H | 3248 | 5154 | ORPHA:217059 | Isolated congenital digital clubbing | | | | 55 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 46 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | IL17RC CL E G H | 84818 | 18358 | OMIM:616445 | Candidiasis, familial, 9 | . | | | 4 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 4 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | KRT1 CL E G H | 3848 | 6412 | ORPHA:530838 | KRT1-related diffuse nonepidermolytic keratoderma | HP:0040282 - Frequent | | | 100 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | SDR9C7 CL E G H | 121214 | 29958 | OMIM:617574 | Ichthyosis, congenital, autosomal recessive 13 | . | | | 2 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:614162 | Immunodeficiency 31C | | | | 89 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040282 - Frequent | | | 71 | | |
HP:0012203 | HP:0012203 | Onychomycosis | 0 | TRAF3IP2 CL E G H | 10758 | 1343 | OMIM:615527 | Candidiasis, familial, 8 | . | | | 4 | | |