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:0001025 | HP:0001025 | Urticaria | 0 | ADGRE2 CL E G H | 30817 | 3337 | OMIM:125630 | Dermodistortive urticaria | . | | | 2 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ALPK1 CL E G H | 80216 | 20917 | OMIM:614979 | Splenomegaly, cytopenia, and vision loss | . | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ANTXR2 CL E G H | 118429 | 21732 | ORPHA:2176 | Infantile systemic hyalinosis | HP:0040281 - Very frequent | | | 49 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 145 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 145 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | CASP10 CL E G H | 843 | 1500 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | CASP10 CL E G H | 843 | 1500 | OMIM:603909 | Autoimmune lymphoproliferative syndrome, type IIA | . | | | 87 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | CBL CL E G H | 867 | 1541 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 317 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040283 - Occasional | | | 242 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ELOVL4 CL E G H | 6785 | 14415 | ORPHA:1955 | Spinocerebellar ataxia type 34 | HP:0040281 - Very frequent | | | 62 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 106 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 54 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 158 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 83 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | FAS CL E G H | 355 | 11920 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 59 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | FAS CL E G H | 355 | 11920 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 59 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | FASLG CL E G H | 356 | 11936 | OMIM:601859 | Autoimmune lymphoproliferative syndrome | . | | | 37 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | FASLG CL E G H | 356 | 11936 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | FOXP3 CL E G H | 50943 | 6106 | ORPHA:37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | GNB2 CL E G H | 2783 | 4398 | OMIM:619503 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:703 | Bullous pemphigoid | HP:0040281 - Very frequent | | | 2 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:280785 | Bullous diffuse cutaneous mastocytosis | HP:0040281 - Very frequent | | | 327 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | HP:0040281 - Very frequent | | | 327 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | KIT CL E G H | 3815 | 6342 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 327 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | KIT CL E G H | 3815 | 6342 | OMIM:154800 | Mastocytosis, cutaneous | . | | | 327 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | KIT CL E G H | 3815 | 6342 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 327 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | MVK CL E G H | 4598 | 7530 | ORPHA:343 | Hyperimmunoglobulinemia D with periodic fever | HP:0040282 - Frequent | | | 150 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616050 | AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC | | | | 30 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRC4 CL E G H | 58484 | 16412 | OMIM:616115 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4; FCAS4 | | | | 30 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP12 CL E G H | 91662 | 22938 | OMIM:611762 | Familial cold autoinflammatory syndrome 2 | | | | 99 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:1451 | CINCA syndrome | HP:0040281 - Very frequent | | | 217 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:617772 | Deafness, autosomal dominant 34, with or without inflammation | . | | | 217 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:120100 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1; FCAS1 | | | | 217 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:47045 | Familial cold urticaria | HP:0040281 - Very frequent | | | 217 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | NLRP3 CL E G H | 114548 | 16400 | ORPHA:575 | Muckle-Wells syndrome | HP:0040282 - Frequent | | | 217 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | PIGT CL E G H | 51604 | 14938 | OMIM:615399 | Paroxysmal nocturnal hemoglobinuria 2 | . | | | 12 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | PRKCD CL E G H | 5580 | 9399 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | 10 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618987 | IMMUNODEFICIENCY 73C WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND HYPOGAMMAGLOBULINEMIA; IMD73C | | | | 9 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | RASGRP1 CL E G H | 10125 | 9878 | ORPHA:3261 | Autoimmune lymphoproliferative syndrome | HP:0040283 - Occasional | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | RUNX1 CL E G H | 861 | 10471 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 181 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SDHB CL E G H | 6390 | 10681 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 237 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SDHC CL E G H | 6391 | 10682 | OMIM:606764 | Gastrointestinal stromal tumor | . | | | 147 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SF3B4 CL E G H | 10262 | 10771 | OMIM:154400 | Acrofacial dysostosis 1, Nager type | . | | | 49 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SPINK5 CL E G H | 11005 | 15464 | ORPHA:634 | Netherton syndrome | HP:0040281 - Very frequent | | | 100 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SPINK5 CL E G H | 11005 | 15464 | OMIM:256500 | Netherton syndrome | . | | | 100 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 1 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SRSF2 CL E G H | 6427 | 10783 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 1 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98850 | Aggressive systemic mastocytosis | HP:0040283 - Occasional | | | 3 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | TET2 CL E G H | 54790 | 25941 | ORPHA:98849 | Systemic mastocytosis with associated hematologic neoplasm | HP:0040283 - Occasional | | | 3 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0001025 | HP:0001025 | Urticaria | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0001025 | HP:0410133 | Chronic idiopathic urticaria | 1 | CL E G H | | | | | | | | | | |
HP:0001025 | HP:0033167 | Neutrophilic urticarial dermatosis | 1 | CL E G H | | | | | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | | | | 46 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | | | | 4 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0001025 | HP:0025081 | Darier's sign | 1 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | | | | 64 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | | | | | | |
HP:0001025 | HP:0410134 | Physical urticaria | 1 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | | | | 71 | | |
HP:0001025 | HP:0410138 | Vibratory urticaria | 2 | CL E G H | | | | | | | | | | |
HP:0001025 | HP:0410137 | Solar urticaria | 2 | CL E G H | | | | | | | | | | |
HP:0001025 | HP:0410136 | Aquagenic urticaria | 2 | CL E G H | | | | | | | | | | |
HP:0001025 | HP:0410135 | Cold urticaria | 2 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | IL12A CL E G H | 3592 | 5969 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 46 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | IRF5 CL E G H | 3663 | 6120 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 4 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | KIT CL E G H | 3815 | 6342 | ORPHA:79455 | Cutaneous mastocytoma | | | | 327 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | MMEL1 CL E G H | 79258 | 14668 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0001025 | HP:0410135 | Cold urticaria | 2 | PLCG2 CL E G H | 5336 | 9066 | OMIM:614468 | FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3; FCAS3 | | | | 21 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | POU2AF1 CL E G H | 5450 | 9211 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | SLC27A4 CL E G H | 10999 | 10998 | OMIM:608649 | ICHTHYOSIS PREMATURITY SYNDROME; IPS | | | | 26 | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | SPIB CL E G H | 6689 | 11242 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | SUPT16H CL E G H | 11198 | 11465 | OMIM:619480 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC | | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | TNFSF15 CL E G H | 9966 | 11931 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | | | |
HP:0001025 | HP:0011971 | Dermatographic urticaria | 2 | TNPO3 CL E G H | 23534 | 17103 | ORPHA:186 | Primary biliary cholangitis | HP:0040281 - Very frequent | | | 71 | | |