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:0100750 | HP:0100750 | Atelectasis | 0 | ABCA3 CL E G H | 21 | 33 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 147 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040283 - Occasional | | | 78 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | B3GALT6 CL E G H | 126792 | 17978 | ORPHA:536467 | B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 38 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCDC103 CL E G H | 388389 | 32700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 36 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCDC39 CL E G H | 339829 | 25244 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 126 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCDC40 CL E G H | 55036 | 26090 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 182 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCDC65 CL E G H | 85478 | 29937 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCNO CL E G H | 10309 | 18576 | OMIM:615872 | Ciliary dyskinesia, primary, 29 | . | | | 23 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CCNO CL E G H | 10309 | 18576 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 23 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CFAP221 CL E G H | 200373 | 33720 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CFAP298 CL E G H | 56683 | 1301 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CFAP300 CL E G H | 85016 | 28188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CXCR4 CL E G H | 7852 | 2561 | ORPHA:51636 | WHIM syndrome | HP:0040284 - Very rare | | | 9 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | CYBB CL E G H | 1536 | 2578 | OMIM:306400 | Chronic granulomatous disease, X-linked | | | | 111 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF1 CL E G H | 123872 | 30539 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 116 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF11 CL E G H | 23639 | 16725 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF2 CL E G H | 55172 | 20188 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 78 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF3 CL E G H | 352909 | 30492 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 63 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF4 CL E G H | 161582 | 21493 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 27 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF5 CL E G H | 54919 | 26013 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 62 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAAF6 CL E G H | 139212 | 28570 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAH1 CL E G H | 25981 | 2940 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAH11 CL E G H | 8701 | 2942 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 542 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAH5 CL E G H | 1767 | 2950 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 527 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAH9 CL E G H | 1770 | 2953 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 18 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAI1 CL E G H | 27019 | 2954 | OMIM:244400 | Ciliary dyskinesia, primary, 1 | | | | 73 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAI1 CL E G H | 27019 | 2954 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 73 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAI2 CL E G H | 64446 | 18744 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 104 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAJB13 CL E G H | 374407 | 30718 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 2 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DNAL1 CL E G H | 83544 | 23247 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 167 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DRC1 CL E G H | 92749 | 24245 | OMIM:615294 | CILIARY DYSKINESIA, PRIMARY, 21; CILD21 | | | | 44 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | DRC1 CL E G H | 92749 | 24245 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 44 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | FOXJ1 CL E G H | 2302 | 3816 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | GAS2L2 CL E G H | 246176 | 24846 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 1 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | GAS8 CL E G H | 2622 | 4166 | OMIM:616726 | Ciliary dyskinesia, primary, 33 | | | | 9 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | GAS8 CL E G H | 2622 | 4166 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 9 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | HYDIN CL E G H | 54768 | 19368 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 21 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040283 - Occasional | | | 411 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | LRRC56 CL E G H | 115399 | 25430 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | MCIDAS CL E G H | 345643 | 40050 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 13 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | NEK10 CL E G H | 152110 | 18592 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | NHLRC2 CL E G H | 374354 | 24731 | OMIM:618278 | Fibrosis, neurodegeneration, and cerebral angiomatosis | . | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | NKX2-1 CL E G H | 7080 | 11825 | OMIM:610978 | Choreoathetosis, hypothyroidism, and neonatal respiratory distress | | | | 51 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | NME8 CL E G H | 51314 | 16473 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 50 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040283 - Occasional | | | 88 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ODAD1 CL E G H | 93233 | 26560 | OMIM:615067 | Ciliary dyskinesia, primary, 20 | . | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ODAD1 CL E G H | 93233 | 26560 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ODAD2 CL E G H | 55130 | 25583 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ODAD3 CL E G H | 115948 | 28303 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ODAD4 CL E G H | 83538 | 25280 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 201 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | PAX3 CL E G H | 5077 | 8617 | ORPHA:896 | Waardenburg syndrome type 3 | HP:0040282 - Frequent | | | 59 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | PLEC CL E G H | 5339 | 9069 | ORPHA:254361 | Plectin-related limb-girdle muscular dystrophy R17 | HP:0040284 - Very rare | | | 759 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RIPK4 CL E G H | 54101 | 496 | ORPHA:1401 | CHAND syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RPGR CL E G H | 6103 | 10295 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 200 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RPGR CL E G H | 6103 | 10295 | OMIM:300455 | RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS | | | | 200 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RSPH1 CL E G H | 89765 | 12371 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 31 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RSPH3 CL E G H | 83861 | 21054 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 5 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RSPH4A CL E G H | 345895 | 21558 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 58 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | RSPH9 CL E G H | 221421 | 21057 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | SFTPB CL E G H | 6439 | 10801 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | SFTPC CL E G H | 6440 | 10802 | ORPHA:70587 | Infant acute respiratory distress syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | SPAG1 CL E G H | 6674 | 11212 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 45 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | SPEF2 CL E G H | 79925 | 26293 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 15 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:2314 | Autosomal dominant hyper-IgE syndrome | HP:0040281 - Very frequent | | | 110 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | STK36 CL E G H | 27148 | 17209 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 3 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | | | | 32 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TP73 CL E G H | 7161 | 12003 | OMIM:619466 | CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY; CILD47 | | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TSC1 CL E G H | 7248 | 12362 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 1090 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TSC2 CL E G H | 7249 | 12363 | ORPHA:538 | Lymphangioleiomyomatosis | HP:0040282 - Frequent | | | 2738 | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | TTC12 CL E G H | 54970 | 23700 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0100750 | HP:0100750 | Atelectasis | 0 | ZMYND10 CL E G H | 51364 | 19412 | ORPHA:244 | Primary ciliary dyskinesia | HP:0040283 - Occasional | | | 20 | | |
HP:0100750 | HP:0033658 | Rounded atelectasis | 1 | CL E G H | | | | | | | | | | |
HP:0100750 | HP:0033657 | Linear atelectasis | 1 | CL E G H | | | | | | | | | | |