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:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 36 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 126 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 182 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:300645 | Atypical mycobacteriosis, familial, X-linked 2 | . | | | 111 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DCLRE1C CL E G H | 64421 | 17642 | ORPHA:275 | Severe combined immunodeficiency due to DCLRE1C deficiency | HP:0040283 - Occasional | | | 94 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 116 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 78 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 63 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 27 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 62 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 542 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 527 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 18 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 73 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 104 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 2 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 167 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 44 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 1 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 9 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | | | | 137 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | . | | | 60 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | IFNGR2 CL E G H | 3460 | 5440 | OMIM:614889 | Immunodeficiency 28 | . | | | 38 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | IL12RB1 CL E G H | 3594 | 5971 | OMIM:614891 | Immunodeficiency 30 | . | | | 46 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | IL12RB1 CL E G H | 3594 | 5971 | ORPHA:319552 | Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency | HP:0040281 - Very frequent | | | 46 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ISG15 CL E G H | 9636 | 4053 | OMIM:616126 | Immunodeficiency 38 with basal ganglia calcification | | | | 4 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 13 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 50 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 201 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 200 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 31 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 5 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 58 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 45 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 15 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | STAT1 CL E G H | 6772 | 11362 | OMIM:613796 | Mycobacterial and viral infections, susceptibility to, autosomal recessive | . | | | 89 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 3 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | TYK2 CL E G H | 7297 | 12440 | OMIM:611521 | Immunodeficiency 35 | | | | 77 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ZAP70 CL E G H | 7535 | 12858 | ORPHA:911 | Combined immunodeficiency due to ZAP70 deficiency | HP:0040283 - Occasional | | | 46 | | |
HP:0011274 | HP:0011274 | Recurrent mycobacterial infections | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0011274 | HP:0011275 | Recurrent mycobacterium avium complex infections | 1 | GATA2 CL E G H | 2624 | 4171 | OMIM:614172 | Immunodeficiency 21 | . | | | 137 | | |
HP:0011274 | HP:0011275 | Recurrent mycobacterium avium complex infections | 1 | IFNGR1 CL E G H | 3459 | 5439 | OMIM:615978 | Immunodeficiency 27B | | | | 60 | | |