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:0000246 | HP:0000246 | Sinusitis | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ADA CL E G H | 100 | 186 | ORPHA:277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ADA CL E G H | 100 | 186 | OMIM:102700 | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | . | | | 75 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ATM CL E G H | 472 | 795 | OMIM:208900 | ATAXIA-TELANGIECTASIA | . | | | 3267 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | | | | 4 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | BLNK CL E G H | 29760 | 14211 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 4 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | . | | | 109 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | BTK CL E G H | 695 | 1133 | OMIM:307200 | Isolated growth hormone deficiency, type III, with agammaglobulinemia | . | | | 109 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | BTK CL E G H | 695 | 1133 | ORPHA:47 | X-linked agammaglobulinemia | HP:0040281 - Very frequent | | | 109 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC103 CL E G H | 388389 | 32700 | OMIM:614679 | Ciliary dyskinesia, primary, 17 | | | | 36 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | | | | 36 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | | | | 126 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | | | | 182 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | . | | | 23 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | | | | 23 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CD79A CL E G H | 973 | 1698 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 9 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | | | | 6 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CD79B CL E G H | 974 | 1699 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 6 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CIITA CL E G H | 4261 | 7067 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 118 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 10 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | . | | | 116 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | | | | 116 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | | | | 78 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF3 CL E G H | 352909 | 30492 | OMIM:606763 | Ciliary dyskinesia, primary, 2 | . | | | 63 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | | | | 63 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | . | | | 27 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | | | | 27 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | | | | 62 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | | | | 62 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF6 CL E G H | 139212 | 28570 | OMIM:300991 | Ciliary dyskinesia, primary, 36, X-linked | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | | | | 542 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH5 CL E G H | 1767 | 2950 | OMIM:608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | | | | 527 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | | | | 527 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | | | | 18 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | | | | 73 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | | | | 104 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAJB13 CL E G H | 374407 | 30718 | OMIM:617091 | CILIARY DYSKINESIA, PRIMARY, 34; CILD34 | | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAJC21 CL E G H | 134218 | 27030 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | | | | 167 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DNMT3B CL E G H | 1789 | 2979 | OMIM:242860 | Immunodeficiency-Centromeric instability-facial anomalies syndrome | . | | | 79 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | | | | 217 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | | | | 44 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | EFL1 CL E G H | 79631 | 25789 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ELANE CL E G H | 1991 | 3309 | ORPHA:2686 | Cyclic neutropenia | HP:0040281 - Very frequent | | | 79 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | FMR1 CL E G H | 2332 | 3775 | ORPHA:908 | Fragile X syndrome | HP:0040282 - Frequent | | | 30 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | GAS2L2 CL E G H | 246176 | 24846 | OMIM:618449 | Ciliary dyskinesia, primary, 41 | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | | | | 9 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | | | | 21 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | | | | 32 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGHM CL E G H | 3507 | 5541 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGLL1 CL E G H | 3543 | 5870 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | HP:0040283 - Occasional | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IL2RG CL E G H | 3561 | 6010 | OMIM:312863 | Combined immunodeficiency, X-linked | . | | | 48 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | . | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | LRRC8A CL E G H | 56262 | 19027 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | | | | 13 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | | | | 33 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NBN CL E G H | 4683 | 7652 | OMIM:251260 | Nijmegen breakage syndrome | . | | | 706 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | | | | 37 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NEK10 CL E G H | 152110 | 18592 | OMIM:618781 | CILIARY DYSKINESIA, PRIMARY, 44; CILD44 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NF1 CL E G H | 4763 | 7765 | ORPHA:363700 | Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion | HP:0040284 - Very rare | | | 1952 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | | | | 11 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | . | | | 50 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | | | | 50 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD4 CL E G H | 83538 | 25280 | OMIM:617092 | Ciliary dyskinesia, primary, 35 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | | | | 201 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | | | | 15 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PIK3R1 CL E G H | 5295 | 8979 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 43 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PNP CL E G H | 4860 | 7892 | OMIM:613179 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | . | | | 52 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040281 - Very frequent | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RFX5 CL E G H | 5993 | 9986 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 38 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RFXANK CL E G H | 8625 | 9987 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 26 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RFXAP CL E G H | 5994 | 9988 | ORPHA:572 | Immunodeficiency by defective expression of MHC class II | HP:0040282 - Frequent | | | 34 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | | | | 200 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH1 CL E G H | 89765 | 12371 | OMIM:615481 | Ciliary dyskinesia, primary, 24 | . | | | 31 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | | | | 31 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH4A CL E G H | 345895 | 21558 | OMIM:612649 | Ciliary dyskinesia, primary, 11 | | | | 58 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | | | | 58 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | RUNX2 CL E G H | 860 | 10472 | ORPHA:1452 | Cleidocranial dysplasia | HP:0040282 - Frequent | | | 90 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SBDS CL E G H | 51119 | 19440 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | . | | | 45 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | | | | 45 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | | | | 15 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | SRP54 CL E G H | 6729 | 11301 | ORPHA:811 | Shwachman-Diamond syndrome | HP:0040283 - Occasional | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 5 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 17 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | | | | 3 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TCF3 CL E G H | 6929 | 11633 | ORPHA:33110 | Autosomal agammaglobulinemia | HP:0040281 - Very frequent | | | 2 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | | | | | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |
HP:0000246 | HP:0000246 | Sinusitis | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | | | | 20 | | |
HP:0000246 | HP:0000255 | Acute sinusitis | 1 | CL E G H | | | | | | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | . | | | 16 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ADA2 CL E G H | 51816 | 1839 | OMIM:615688 | Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome | | | | 22 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040282 - Frequent | | | 404 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | BLNK CL E G H | 29760 | 14211 | OMIM:613502 | Agammaglobulinemia 4, autosomal recessive | . | | | 4 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | BTK CL E G H | 695 | 1133 | OMIM:300755 | Agammaglobulinemia, X-linked | | | | 109 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | C4B CL E G H | 721 | 1324 | OMIM:614379 | Complement component 4B deficiency | | | | 1 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC103 CL E G H | 388389 | 32700 | OMIM:614679 | Ciliary dyskinesia, primary, 17 | . | | | 36 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 36 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC39 CL E G H | 339829 | 25244 | OMIM:613807 | Ciliary dyskinesia, primary, 14 | | | | 126 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 126 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC40 CL E G H | 55036 | 26090 | OMIM:613808 | CILIARY DYSKINESIA, PRIMARY, 15; CILD15 | | | | 182 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 182 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | . | | | 23 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC65 CL E G H | 85478 | 29937 | OMIM:615504 | Ciliary dyskinesia, primary, 27 | | | | 23 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 23 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CD19 CL E G H | 930 | 1633 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 38 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CD19 CL E G H | 930 | 1633 | OMIM:613493 | IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3 | | | | 38 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CD79B CL E G H | 974 | 1699 | OMIM:612692 | Agammaglobulinemia 6, autosomal recessive | . | | | 6 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CFAP298 CL E G H | 56683 | 1301 | OMIM:615500 | Ciliary dyskinesia, primary, 26 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP300 CL E G H | 85016 | 28188 | OMIM:618063 | Ciliary dyskinesia, primary, 38 | . | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP45 CL E G H | 25790 | 17229 | OMIM:619608 | HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFAP52 CL E G H | 146845 | 16053 | OMIM:619607 | HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10 | | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CFI CL E G H | 3426 | 5394 | OMIM:610984 | Complement factor I deficiency | . | | | 57 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | CFTR CL E G H | 1080 | 1884 | OMIM:219700 | Cystic fibrosis | | | | 1371 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | COL5A1 CL E G H | 1289 | 2209 | OMIM:130000 | Ehlers-danlos syndrome, type I | | | | 660 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | COL5A2 CL E G H | 1290 | 2210 | OMIM:130010 | Ehlers-Danlos syndrome, classic type, 2 | | | | 325 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | CR2 CL E G H | 1380 | 2336 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 10 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF1 CL E G H | 123872 | 30539 | OMIM:613193 | Ciliary dyskinesia, primary, 13 | | | | 116 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 116 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF11 CL E G H | 23639 | 16725 | OMIM:614935 | Ciliary dyskinesia, primary, 19 | . | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF2 CL E G H | 55172 | 20188 | OMIM:612518 | CILIARY DYSKINESIA, PRIMARY, 10; CILD10 | | | | 78 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 78 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 63 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | . | | | 27 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 27 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF5 CL E G H | 54919 | 26013 | OMIM:614874 | Ciliary dyskinesia, primary, 18 | . | | | 62 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 62 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAAF6 CL E G H | 139212 | 28570 | OMIM:300991 | Ciliary dyskinesia, primary, 36, X-linked | . | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 542 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAH5 CL E G H | 1767 | 2950 | OMIM:608644 | CILIARY DYSKINESIA, PRIMARY, 3; CILD3 | | | | 527 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 527 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAH9 CL E G H | 1770 | 2953 | OMIM:618300 | Ciliary dyskinesia, primary, 40 | | | | 18 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 18 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | . | | | 73 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 73 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAI2 CL E G H | 64446 | 18744 | OMIM:612444 | CILIARY DYSKINESIA, PRIMARY, 9; CILD9 | | | | 104 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 104 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DNAJB13 CL E G H | 374407 | 30718 | OMIM:617091 | CILIARY DYSKINESIA, PRIMARY, 34; CILD34 | | | | 2 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 2 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAL1 CL E G H | 83544 | 23247 | OMIM:614017 | CILIARY DYSKINESIA, PRIMARY, 16; CILD16 | | | | 167 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 167 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DOCK8 CL E G H | 81704 | 19191 | ORPHA:217390 | Combined immunodeficiency due to DOCK8 deficiency | HP:0040281 - Very frequent | | | 217 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | DOCK8 CL E G H | 81704 | 19191 | OMIM:243700 | Hyper-Ige recurrent infection syndrome, autosomal recessive | | | | 217 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 44 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | FCGR2A CL E G H | 2212 | 3616 | OMIM:219700 | Cystic fibrosis | | | | 6 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | FCGR3A CL E G H | 2214 | 3619 | OMIM:615707 | Immunodeficiency 20 | | | | 4 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | FOXJ1 CL E G H | 2302 | 3816 | OMIM:618699 | CILIARY DYSKINESIA, PRIMARY, 43; CILD43 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | GAS2L2 CL E G H | 246176 | 24846 | OMIM:618449 | Ciliary dyskinesia, primary, 41 | | | | 1 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 1 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 9 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | HYDIN CL E G H | 54768 | 19368 | OMIM:608647 | Ciliary dyskinesia, primary, 5 | . | | | 21 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 21 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:607594 | Immunodeficiency, common variable, 1 | . | | | 32 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ICOS CL E G H | 29851 | 5351 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | IGHG2 CL E G H | 3501 | 5526 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 1 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IGHM CL E G H | 3507 | 5541 | OMIM:601495 | Agammaglobulinemia 1, autosomal recessive | . | | | 7 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | IGKC CL E G H | 3514 | 5716 | ORPHA:183675 | Recurrent infections associated with rare immunoglobulin isotypes deficiency | | | | 5 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IKBKB CL E G H | 3551 | 5960 | OMIM:618204 | IMMUNODEFICIENCY 15A; IMD15A | | | | 4 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IL17RA CL E G H | 23765 | 5985 | OMIM:613953 | Immunodeficiency 51 | | | | 196 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IL21R CL E G H | 50615 | 6006 | OMIM:615207 | IMMUNODEFICIENCY 56; IMD56 | | | | 7 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IRF2BP2 CL E G H | 359948 | 21729 | OMIM:617765 | IMMUNODEFICIENCY, COMMON VARIABLE, 14; CVID14 | | | | 4 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | IVNS1ABP CL E G H | 10625 | 16951 | OMIM:618969 | IMMUNODEFICIENCY 70; IMD70 | | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | LRBA CL E G H | 987 | 1742 | OMIM:614700 | IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8 | | | | 45 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | MAGT1 CL E G H | 84061 | 28880 | OMIM:300853 | IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN | | | | 17 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 13 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | MDM4 CL E G H | 4194 | 6974 | OMIM:618849 | BONE MARROW FAILURE SYNDROME 6; BMFS6 | | | | 1 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | MGP CL E G H | 4256 | 7060 | ORPHA:85202 | Keutel syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NCF4 CL E G H | 4689 | 7662 | OMIM:613960 | Chronic granulomatous disease 3, autosomal recessive | . | | | 37 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NEK10 CL E G H | 152110 | 18592 | OMIM:618781 | CILIARY DYSKINESIA, PRIMARY, 44; CILD44 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NFKB2 CL E G H | 4791 | 7795 | ORPHA:293978 | Deficiency in anterior pituitary function-variable immunodeficiency syndrome | HP:0040281 - Very frequent | | | 11 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NFKB2 CL E G H | 4791 | 7795 | OMIM:615577 | Immunodeficiency, common variable, 10 | | | | 11 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NME5 CL E G H | 8382 | 7853 | OMIM:620032 | | | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | NME8 CL E G H | 51314 | 16473 | OMIM:610852 | Ciliary dyskinesia, primary, 6 | . | | | 50 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 50 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ODAD2 CL E G H | 55130 | 25583 | OMIM:615451 | CILIARY DYSKINESIA, PRIMARY, 23; CILD23 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD3 CL E G H | 115948 | 28303 | OMIM:616037 | Ciliary dyskinesia, primary, 30 | | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD4 CL E G H | 83538 | 25280 | OMIM:617092 | Ciliary dyskinesia, primary, 35 | . | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 201 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | PGM3 CL E G H | 5238 | 8907 | ORPHA:443811 | PGM3-CDG | HP:0040283 - Occasional | | | 15 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | PIK3CD CL E G H | 5293 | 8977 | OMIM:619281 | IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE; IMD14B | | | | 9 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | PRKCD CL E G H | 5580 | 9399 | OMIM:615559 | AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3 | | | | 10 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | RNF168 CL E G H | 165918 | 26661 | ORPHA:420741 | RIDDLE syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 200 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | RSPH1 CL E G H | 89765 | 12371 | OMIM:615481 | Ciliary dyskinesia, primary, 24 | . | | | 31 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 31 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 5 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | RSPH4A CL E G H | 345895 | 21558 | OMIM:612649 | Ciliary dyskinesia, primary, 11 | | | | 58 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 58 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | SASH3 CL E G H | 54440 | 15975 | OMIM:301082 | | | | | 1 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | SH3KBP1 CL E G H | 30011 | 13867 | OMIM:300310 | Immunodeficiency 61 | . | | | 2 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | SPAG1 CL E G H | 6674 | 11212 | OMIM:615505 | Ciliary dyskinesia, primary, 28 | . | | | 45 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 45 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 15 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | SPI1 CL E G H | 6688 | 11241 | OMIM:619707 | AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT; AGM10 | | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | STK36 CL E G H | 27148 | 17209 | OMIM:619436 | CILIARY DYSKINESIA, PRIMARY, 46; CILD46 | | | | 3 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 3 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | STXBP2 CL E G H | 6813 | 11445 | OMIM:613101 | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5 | | | | 70 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | TAP1 CL E G H | 6890 | 43 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 5 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | TAP2 CL E G H | 6891 | 44 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 17 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | TAPBP CL E G H | 6892 | 11566 | OMIM:604571 | Bare lymphocyte syndrome, type I | . | | | 3 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | TGFB1 CL E G H | 7040 | 11766 | OMIM:219700 | Cystic fibrosis | | | | 13 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | TMCO1 CL E G H | 54499 | 18188 | OMIM:213980 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | | | | 6 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | TNFRSF13B CL E G H | 23495 | 18153 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 32 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:240500 | Immunodeficiency, common variable, 2 | | | | 12 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | TNFRSF13C CL E G H | 115650 | 17755 | OMIM:613494 | Immunodeficiency, common variable, 4 | | | | 12 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | UNC119 CL E G H | 9094 | 12565 | OMIM:615518 | IMMUNODEFICIENCY 13; IMD13 | | | | 30 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | USB1 CL E G H | 79650 | 25792 | OMIM:604173 | Poikiloderma with neutropenia | | | | 8 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | WAS CL E G H | 7454 | 12731 | OMIM:301000 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0000246 | HP:0011108 | Recurrent sinusitis | 1 | ZMYND10 CL E G H | 51364 | 19412 | OMIM:615444 | Ciliary dyskinesia, primary, 22 | . | | | 20 | | |
HP:0000246 | HP:0011109 | Chronic sinusitis | 1 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040282 - Frequent | | | 20 | | |