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:0006536 | HP:0006536 | Airway obstruction | 0 | ACTC1 CL E G H | 70 | 143 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 208 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | | | | 36 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | | | | 404 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | APC CL E G H | 324 | 583 | ORPHA:261584 | Familial adenomatous polyposis due to 5q22.2 microdeletion | HP:0040283 - Occasional | | | 3179 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | | | | 314 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 36 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 126 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 182 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CEACAM3 CL E G H | 1084 | 1815 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CEACAM6 CL E G H | 4680 | 1818 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:586 | Cystic fibrosis | | | | 1371 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 1371 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CITED2 CL E G H | 10370 | 1987 | ORPHA:99105 | Atrial septal defect, sinus venosus type | HP:0040284 - Very rare | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CLCA4 CL E G H | 22802 | 2018 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | | | | 215 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | | | | 27 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | | | | 111 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DCTN4 CL E G H | 51164 | 15518 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 116 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 78 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 63 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | | | | 27 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 27 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 62 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 542 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 527 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 18 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 73 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 104 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 167 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DNASE1L3 CL E G H | 1776 | 2959 | ORPHA:36412 | Hypocomplementemic urticarial vasculitis | HP:0040283 - Occasional | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 44 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | EDNRA CL E G H | 1909 | 3179 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 175 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | | | | 145 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 9 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GATA4 CL E G H | 2626 | 4173 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 87 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GATA6 CL E G H | 2627 | 4174 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 37 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GCLC CL E G H | 2729 | 4311 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GLA CL E G H | 2717 | 4296 | OMIM:301500 | Fabry disease | . | | | 291 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | | | | 291 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | | | | 173 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GSTM3 CL E G H | 2947 | 4635 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | GUSB CL E G H | 2990 | 4696 | OMIM:253220 | Mucopolysaccharidosis, type VII | | | | 54 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HFE CL E G H | 3077 | 4886 | ORPHA:586 | Cystic fibrosis | | | | 38 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HMOX1 CL E G H | 3162 | 5013 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HMOX1 CL E G H | 3162 | 5013 | OMIM:606963 | Pulmonary disease, chronic obstructive | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | | | | 86 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | | | | 86 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | IDS CL E G H | 3423 | 5389 | OMIM:309900 | Mucopolysaccharidosis, type II | | | | 86 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | KCNN4 CL E G H | 3783 | 6293 | ORPHA:586 | Cystic fibrosis | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | KIF22 CL E G H | 3835 | 6391 | ORPHA:93360 | Spondyloepimetaphyseal dysplasia with multiple dislocations | HP:0040283 - Occasional | | | 14 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 645 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 13 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MIF CL E G H | 4282 | 7097 | ORPHA:586 | Cystic fibrosis | | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MMP1 CL E G H | 4312 | 7155 | OMIM:606963 | Pulmonary disease, chronic obstructive | | | | 6 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MYH6 CL E G H | 4624 | 7576 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 452 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | | | | 1269 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | | | | 13 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | | | | 67 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | | | | 37 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NFIX CL E G H | 4784 | 7788 | OMIM:602535 | Marshall-Smith syndrome | | | | 40 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NKX2-5 CL E G H | 1482 | 2488 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 90 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 50 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 201 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 76 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 200 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 31 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 58 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 67 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 61 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | | | | 57 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | | | | 131 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SERPINA1 CL E G H | 5265 | 8941 | ORPHA:586 | Cystic fibrosis | | | | 131 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | | | | 177 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SLC11A1 CL E G H | 6556 | 10907 | ORPHA:586 | Cystic fibrosis | | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SLC26A9 CL E G H | 115019 | 14469 | ORPHA:586 | Cystic fibrosis | | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SLC6A14 CL E G H | 11254 | 11047 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SLC9A3 CL E G H | 6550 | 11073 | ORPHA:586 | Cystic fibrosis | | | | 7 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SOX9 CL E G H | 6662 | 11204 | ORPHA:718 | Isolated Pierre Robin syndrome | | | | 109 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 45 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 15 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 3 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:586 | Cystic fibrosis | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TBX20 CL E G H | 57057 | 11598 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 20 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TGFB1 CL E G H | 7040 | 11766 | ORPHA:586 | Cystic fibrosis | | | | 13 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99106 | Atrial septal defect, ostium primum type | HP:0040283 - Occasional | | | 6 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TLL1 CL E G H | 7092 | 11843 | ORPHA:99103 | Atrial septal defect, ostium secundum type | HP:0040284 - Very rare | | | 6 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040282 - Frequent | | | 1 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 65 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | | | | 6 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | | | | 83 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | | | | 5 | | |
HP:0006536 | HP:0006536 | Airway obstruction | 0 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | | | | 5 | | |
HP:0006536 | HP:0033541 | Irreversible airflow obstruction | 1 | CL E G H | | | | | | | | | | |
HP:0006536 | HP:0033540 | Reversible airflow obstruction | 1 | CL E G H | | | | | | | | | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | AHDC1 CL E G H | 27245 | 25230 | ORPHA:412069 | AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome | HP:0040282 - Frequent | | | 36 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | ALMS1 CL E G H | 7840 | 428 | ORPHA:64 | Alström syndrome | HP:0040283 - Occasional | | | 404 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040283 - Occasional | | | 314 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | BTNL2 CL E G H | 56244 | 1142 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 1 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | CARMIL2 CL E G H | 146206 | 27089 | OMIM:618131 | IMMUNODEFICIENCY 58; IMD58 | | | | 3 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | CFTR CL E G H | 1080 | 1884 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 1371 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:440354 | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | HP:0040281 - Very frequent | | | 215 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | CYBA CL E G H | 1535 | 2577 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 27 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | CYBB CL E G H | 1536 | 2578 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 111 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | CYBC1 CL E G H | 79415 | 28672 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | DDRGK1 CL E G H | 65992 | 16110 | ORPHA:93352 | Spondyloepimetaphyseal dysplasia, Shohat type | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | DNAAF4 CL E G H | 161582 | 21493 | OMIM:615482 | Ciliary dyskinesia, primary, 25 | . | | | 27 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | DNAH11 CL E G H | 8701 | 2942 | OMIM:611884 | CILIARY DYSKINESIA, PRIMARY, 7; CILD7 | | | | 542 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | ENG CL E G H | 2022 | 3349 | OMIM:187300 | Telangiectasia, hereditary hemorrhagic, type 1 | | | | 186 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:100800 | ACHONDROPLASIA | . | | | 145 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | GLA CL E G H | 2717 | 4296 | ORPHA:324 | Fabry disease | HP:0040283 - Occasional | | | 291 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | GNE CL E G H | 10020 | 23657 | ORPHA:3166 | Sialuria | HP:0040281 - Very frequent | | | 173 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:133 | Chronic beryllium disease | HP:0040282 - Frequent | | | 1 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | HLA-DRB1 CL E G H | 3123 | 4948 | ORPHA:797 | Sarcoidosis | HP:0040283 - Occasional | | | 2 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | HMOX1 CL E G H | 3162 | 5013 | OMIM:606963 | Pulmonary disease, chronic obstructive | . | | | 3 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | KCNJ6 CL E G H | 3763 | 6267 | ORPHA:435628 | Keppen-Lubinsky syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | LMNA CL E G H | 4000 | 6636 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 645 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | MCIDAS CL E G H | 345643 | 40050 | OMIM:618695 | CILIARY DYSKINESIA, PRIMARY, 42; CILD42 | | | | 13 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | MMP1 CL E G H | 4312 | 7155 | OMIM:606963 | Pulmonary disease, chronic obstructive | . | | | 6 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | MPEG1 CL E G H | 219972 | 29619 | OMIM:619223 | IMMUNODEFICIENCY 77; IMD77 | | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | MYH7 CL E G H | 4625 | 7577 | ORPHA:437572 | MYH7-related late-onset scapuloperoneal muscular dystrophy | HP:0040283 - Occasional | | | 1269 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 13 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | NCF2 CL E G H | 4688 | 7661 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 67 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | NCF4 CL E G H | 4689 | 7662 | ORPHA:379 | Chronic granulomatous disease | HP:0040281 - Very frequent | | | 37 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | NFKB1 CL E G H | 4790 | 7794 | OMIM:616576 | IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12 | | | | 7 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | RAC2 CL E G H | 5880 | 9802 | OMIM:618986 | IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B | | | | 9 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | RSPH3 CL E G H | 83861 | 21054 | OMIM:616481 | Ciliary dyskinesia, primary, 32 | | | | 5 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | RSPH9 CL E G H | 221421 | 21057 | OMIM:612650 | CILIARY DYSKINESIA, PRIMARY, 12; CILD12 | | | | 20 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | SCNN1A CL E G H | 6337 | 10599 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 67 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | SCNN1B CL E G H | 6338 | 10600 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 61 | | |
HP:0006536 | HP:0030877 | Reduced FEV1/FVC ratio | 1 | SCNN1G CL E G H | 6340 | 10602 | ORPHA:60033 | Idiopathic bronchiectasis | HP:0040282 - Frequent | | | 57 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | SERPINA1 CL E G H | 5265 | 8941 | OMIM:613490 | Alpha-1-Antitrypsin deficiency | . | | | 131 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | SH3BP2 CL E G H | 6452 | 10825 | ORPHA:184 | Cherubism | HP:0040283 - Occasional | | | 177 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | SOX9 CL E G H | 6662 | 11204 | ORPHA:718 | Isolated Pierre Robin syndrome | HP:0040282 - Frequent | | | 109 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | THSD4 CL E G H | 79875 | 25835 | OMIM:619825 | AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12 | | | | 2 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | WAS CL E G H | 7454 | 12731 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 65 | | |
HP:0006536 | HP:0006510 | Chronic pulmonary obstruction | 1 | WIPF1 CL E G H | 7456 | 12736 | ORPHA:906 | Wiskott-Aldrich syndrome | HP:0040281 - Very frequent | | | 6 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | ZMPSTE24 CL E G H | 10269 | 12877 | ORPHA:740 | Hutchinson-Gilford progeria syndrome | HP:0040283 - Occasional | | | 83 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | ZSWIM6 CL E G H | 57688 | 29316 | OMIM:603671 | Acromelic frontonasal dysostosis | HP:0040283 - Occasional | | | 5 | | |
HP:0006536 | HP:0002781 | Upper airway obstruction | 1 | ZSWIM6 CL E G H | 57688 | 29316 | ORPHA:1827 | Acromelic frontonasal dysplasia | HP:0040283 - Occasional | | | 5 | | |
HP:0006536 | HP:0012271 | Episodic upper airway obstruction | 2 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |