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:0100582 | HP:0100582 | Nasal polyposis | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 36 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 126 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 182 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 116 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 78 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | . | | | 63 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 63 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 27 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 62 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 542 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 527 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 18 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 73 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 104 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 2 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 167 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 44 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040283 - Occasional | | | 14 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 9 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 13 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 50 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | . | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD4 CL E G H | 83538 | 25280 | OMIM:617092 | Ciliary dyskinesia, primary, 35 | . | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 201 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | PTGER2 CL E G H | 5732 | 9594 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 200 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 31 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 5 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 58 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 45 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 15 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | STK11 CL E G H | 6794 | 11389 | OMIM:175200 | Peutz-Jeghers syndrome | . | | | 740 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | STK11 CL E G H | 6794 | 11389 | ORPHA:2869 | Peutz-Jeghers syndrome | HP:0040283 - Occasional | | | 740 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 3 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TBX21 CL E G H | 30009 | 11599 | OMIM:208550 | Asthma, nasal polyps, and aspirin intolerance | . | | | 1 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |
HP:0100582 | HP:0100582 | Nasal polyposis | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |