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:0011971 | HP:0011971 | Dermatographic urticaria | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 46 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 4 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0011971 | HP:0011971 | Dermatographic urticaria | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 71 | | |