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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:primary ciliary dyskinesia
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Accession:DOID:9562 term browser browse the term
Definition:A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)
Synonyms:exact_synonym: immotile ciliary syndrome
 xref: GARD:4484;   NCI:C84638;   OMIM:PS244400;   ORDO:244
For additional species annotation, visit the Alliance of Genome Resources.


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primary ciliary dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AGPAT3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,120,899...30,243,438
Ensembl chr21:43,479,513...43,540,453
JBrowse link
G AK7 adenylate kinase 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18776131, PMID:20537283, PMID:22801010 NCBI chr14:77,021,880...77,119,037
Ensembl chr14:96,344,240...96,440,384
JBrowse link
G CBS cystathionine beta-synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,361,519...29,385,610 JBrowse link
G CCDC103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr17:12,416,623...12,423,251
Ensembl chr17:12,589,984...12,595,664
JBrowse link
G CCDC39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131972, PMID:22693285, PMID:22693295, PMID:23255504, PMID:23891469, PMID:24033266, PMID:24498942, PMID:25118008, PMID:25186273, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30067075 NCBI chr 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362
JBrowse link
G CCDC40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213, PMID:21131974, PMID:22499950, PMID:22693285, PMID:23255504, PMID:23261302, PMID:23757202, PMID:23891469, PMID:24033266, PMID:24498942, PMID:24518672, PMID:25619595, PMID:25741868, PMID:25877373, PMID:26228299, PMID:28492532, PMID:31443223 NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G CCDC65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr12:39,829,171...39,845,221
Ensembl chr12:40,697,723...40,723,750
JBrowse link
G CCNO cyclin O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24747639, PMID:25741868, PMID:26139845, PMID:26777464, PMID:28492532 NCBI chr 5:58,796,177...58,798,797
Ensembl chr 5:60,418,890...60,421,475
JBrowse link
G CDCA7L cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22184204, PMID:24033266, PMID:24450482, PMID:25741868, PMID:28492532 NCBI chr 7:22,501,225...22,632,357
Ensembl chr 7:21,897,798...21,944,329
JBrowse link
G CFAP298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24094744, PMID:25741868, PMID:28492532 NCBI chr21:18,944,205...18,982,229 JBrowse link
G CSTB cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,030,359...30,032,899 JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400, PMID:19944405, PMID:22499950, PMID:23599692, PMID:24033266, PMID:24307375, PMID:24498942, PMID:25158045, PMID:25741868, PMID:27543293, PMID:27884173, PMID:28492532, PMID:28991257, PMID:29228333 NCBI chr16:64,810,498...64,843,705 JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19052621, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10745040, PMID:22387996, PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:52,199,690...52,208,648 JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23872636, PMID:24033266, PMID:24824133, PMID:25741868, PMID:26139845, PMID:28492532 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
JBrowse link
G DNAAF5 dynein axonemal assembly factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23040496, PMID:24307375, PMID:25232951, PMID:25741868, PMID:28492532, PMID:29358401, PMID:29363216 NCBI chr 7:875,482...938,560
Ensembl chr 7:1,095,732...1,154,740
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:2690980, PMID:18022865, PMID:20513915, PMID:22102620, PMID:22184204, PMID:24033266, PMID:24450482, PMID:24498942, PMID:25326637, PMID:25741868, PMID:25802884, PMID:26139845, PMID:26729821, PMID:26909801, PMID:27637300, PMID:27637763, PMID:28492532, PMID:28976722, PMID:29997923, PMID:30067075, PMID:30311386, PMID:30359267, PMID:31040315 NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:2127064, PMID:2389146, PMID:11788826, PMID:11912187, PMID:12615011, PMID:15750039, PMID:16492982, PMID:16627867, PMID:17534128, PMID:18492703, PMID:18950741, PMID:19357118, PMID:19630565, PMID:21270641, PMID:22416021, PMID:22499950, PMID:23261302, PMID:23477994, PMID:23891469, PMID:24033266, PMID:24150548, PMID:24267886, PMID:24498942, PMID:24905662, PMID:25066065, PMID:25118008, PMID:25186273, PMID:25326635, PMID:25741868, PMID:25802884, PMID:26139845, PMID:26228299, PMID:26373788, PMID:26918822, PMID:26938784, PMID:27618201, PMID:27637300, PMID:27779714, PMID:28492532, PMID:29363216, PMID:29402277, PMID:29453417, PMID:30067075, PMID:30311386 NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358
JBrowse link
G DNAH7 dynein axonemal heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr2B:82,981,765...83,314,338
Ensembl chr2B:200,883,742...201,200,239
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:24307375, PMID:25741868, PMID:28492532 NCBI chr 6:38,275,243...38,620,278
Ensembl chr 6:39,479,294...39,800,107
JBrowse link
G DNAH9 dynein axonemal heavy chain 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:10577904, PMID:11231901, PMID:11713099, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:23477994, PMID:24033266, PMID:24498942, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216 NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18950741, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:68,212,341...68,253,732
Ensembl chr17:73,770,753...73,811,845
JBrowse link
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr11:69,022,757...69,043,006
Ensembl chr11:72,330,992...72,349,858
JBrowse link
G DNAL1 dynein axonemal light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21496787, PMID:24033266, PMID:28492532 NCBI chr14:54,204,306...54,258,747
Ensembl chr14:73,062,108...73,112,026
JBrowse link
G DRC1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9343467, PMID:12746204, PMID:23354437, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532 NCBI chr2A:26,399,275...26,453,518
Ensembl chr2A:26,491,900...26,545,640
JBrowse link
G ERVH48-1 endogenous retrovirus group 48 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,230,537...29,238,436
Ensembl chr21:42,541,006...42,541,482
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
G GAS2L2 growth arrest specific 2 like 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:30665704 NCBI chr17:21,042,437...21,051,162
Ensembl chr17:21,337,138...21,345,487
JBrowse link
G GAS8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr16:70,777,446...70,806,437
Ensembl chr16:90,444,141...90,467,849
JBrowse link
G GATD3A glutamine amidotransferase like class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,391,586...30,403,698 JBrowse link
G GFAP glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
G HSF2BP heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,787,768...29,916,089
Ensembl chr21:43,088,012...43,214,760
JBrowse link
G LOC100973318 armadillo repeat-containing protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23806086, PMID:23849778, PMID:24033266, PMID:24088041, PMID:25741868, PMID:28492532 NCBI chr10:27,959,535...28,133,143
Ensembl chr10:28,320,425...28,502,925
JBrowse link
G LOC100973922 splicing factor U2AF 35 kDa subunit-like protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,399,601...29,414,156 JBrowse link
G LOC100982531 cytochrome b-245 heavy chain ISO ClinVar Annotator: match by term: Primary ciliary Dyskinesia ClinVar NCBI chr  X:30,230,394...30,267,379
Ensembl chr  X:37,939,704...37,973,183
JBrowse link
G LRRC6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25048963, PMID:25741868, PMID:28492532 NCBI chr 5:58,802,664...58,811,075
Ensembl chr 5:60,425,341...60,433,035
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:30,199,011...30,201,566 JBrowse link
G NDUFV3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,205,714...29,222,057
Ensembl chr21:42,516,295...42,531,750
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr19:45,297,346...45,322,895
Ensembl chr19:53,891,345...53,915,541
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr  X:6,296,597...6,376,197
Ensembl chr  X:13,611,304...13,664,512
JBrowse link
G OTC ornithine transcarbamylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:30,796,828...30,868,144
Ensembl chr  X:38,505,232...38,575,819
JBrowse link
G PDE9A phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:28,963,181...29,088,395
Ensembl chr21:42,275,697...42,398,681
JBrowse link
G PKNOX1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,282,883...29,341,998
Ensembl chr21:42,622,065...42,647,329
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:700,691...876,497
Ensembl chr 7:923,668...1,097,456
JBrowse link
G PTCD3 pentatricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131974, PMID:23255504, PMID:25741868 NCBI chr2A:86,157,741...86,192,227
Ensembl chr2A:87,705,389...87,740,432
JBrowse link
G PWP2 PWP2 small subunit processome component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,364,398...30,389,202 JBrowse link
G RAG1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr11:36,483,697...36,546,242
Ensembl chr11:36,412,420...36,422,904
JBrowse link
G RPGR retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8673101, PMID:9399904, PMID:9855162, PMID:10737996, PMID:10937588, PMID:24033266, PMID:25741868, PMID:28492532, PMID:29453956 NCBI chr  X:30,718,669...30,777,671 JBrowse link
G RRP1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,045,143...30,061,243
Ensembl chr21:43,343,786...43,358,401
JBrowse link
G RRP1B ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,916,109...29,952,749
Ensembl chr21:43,217,516...43,251,192
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:25741868, PMID:26139845, PMID:28492532 NCBI chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610
JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 6:156,861,740...156,889,821
Ensembl chr 6:161,880,465...161,904,315
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19200523, PMID:22448264, PMID:23798057, PMID:23993197, PMID:24033266, PMID:25741868, PMID:25789548, PMID:28492532 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G RSPH9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19200523, PMID:23993197, PMID:24033266, PMID:24307375, PMID:25741868, PMID:28492532 NCBI chr 6:43,234,531...43,261,040
Ensembl chr 6:44,524,408...44,550,569
JBrowse link
G SIK1 salt inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,675,040...29,689,408 JBrowse link
G SLC37A1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:28,821,106...28,891,158
Ensembl chr21:42,138,959...42,208,322
JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 8:96,798,887...96,882,982
Ensembl chr 8:98,977,469...99,054,849
JBrowse link
G SPEF2 sperm flagellar 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:31942643 NCBI chr 5:74,554,017...74,751,921 JBrowse link
G TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400, PMID:19944405, PMID:24033266 NCBI chr16:64,843,197...64,852,408
Ensembl chr16:84,184,928...84,194,147
JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219
JBrowse link
G TNNT1 troponin T1, slow skeletal type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr19:52,173,523...52,190,577
Ensembl chr19:60,868,330...60,882,005
JBrowse link
G TRAPPC10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:30,269,085...30,363,396
Ensembl chr21:43,581,617...43,656,740
JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:21131972, PMID:23255504, PMID:23891469, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:177,628,616...177,644,785
Ensembl chr 3:185,801,388...185,817,540
JBrowse link
G WDR4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr21:29,161,429...29,191,672
Ensembl chr21:42,472,371...42,502,336
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:25741868, PMID:28492532 NCBI chr 3:50,267,218...50,273,009
Ensembl chr 3:51,502,548...51,508,288
JBrowse link
G ZNF18 zinc finger protein 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr17:39,644,525...39,665,660
Ensembl chr17:44,394,846...44,414,720
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr17:12,416,623...12,423,251
Ensembl chr17:12,589,984...12,595,664
JBrowse link
G CCDC40 coiled-coil domain containing 40 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:21131974, PMID:28492532, PMID:31443223 NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G CCNO cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar PMID:24747639, PMID:28492532 NCBI chr 5:58,796,177...58,798,797
Ensembl chr 5:60,418,890...60,421,475
JBrowse link
G CFAP298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744, PMID:28492532 NCBI chr21:18,944,205...18,982,229 JBrowse link
G DNAAF1 dynein axonemal assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400, PMID:19944405 NCBI chr16:64,810,498...64,843,705 JBrowse link
G DNAAF2 dynein axonemal assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621, PMID:24498942 NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
JBrowse link
G DNAAF3 dynein axonemal assembly factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:10745040, PMID:22387996, PMID:28492532 NCBI chr19:52,199,690...52,208,648 JBrowse link
G DNAAF4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
JBrowse link
G DNAH1 dynein axonemal heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 susceptibility ISO DNA:nonsense mutation, missense mutation:R2852X, R3004Q RGD PMID:12142464 RGD:734893 NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485
JBrowse link
G DNAH5 dynein axonemal heavy chain 5 susceptibility ISO DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
RGD
ClinVar
PMID:11788826, PMID:19357118, PMID:19630565, PMID:23477994, PMID:28492532 RGD:1601080 NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358
JBrowse link
G DNAH8 dynein axonemal heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr 6:38,275,243...38,620,278
Ensembl chr 6:39,479,294...39,800,107
JBrowse link
G DNAI1 dynein axonemal intermediate chain 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
CTD
ClinVar
RGD
PMID:10577904, PMID:11231901, PMID:16858015, PMID:18434704, PMID:19675306, PMID:21143860, PMID:21270641, PMID:22416021, PMID:23477994, PMID:24033266, PMID:24498942, PMID:24912412, PMID:25741868, PMID:25802884, PMID:26918822, PMID:28492532, PMID:28939216, PMID:29363216 RGD:1601083 NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454
JBrowse link
G DNAI2 dynein axonemal intermediate chain 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:18950741 NCBI chr17:68,212,341...68,253,732
Ensembl chr17:73,770,753...73,811,845
JBrowse link
G DNAL1 dynein axonemal light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr14:54,204,306...54,258,747
Ensembl chr14:73,062,108...73,112,026
JBrowse link
G DRC1 dynein regulatory complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:9343467, PMID:12746204, PMID:23354437, PMID:23571587, PMID:24033266, PMID:25741868, PMID:27260402, PMID:28492532 NCBI chr2A:26,399,275...26,453,518
Ensembl chr2A:26,491,900...26,545,640
JBrowse link
G HYDIN HYDIN axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390, PMID:23022101 NCBI chr16:53,785,727...54,210,088
Ensembl chr16:70,661,924...71,063,631
JBrowse link
G LOC100973318 armadillo repeat-containing protein 4 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23806086, PMID:23849778, PMID:24088041, PMID:28492532 NCBI chr10:27,959,535...28,133,143
Ensembl chr10:28,320,425...28,502,925
JBrowse link
G LRRC6 leucine rich repeat containing 6 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24307375, PMID:28492532 NCBI chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351
JBrowse link
G MBL2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr10:49,401,364...49,409,328
Ensembl chr10:51,527,758...51,543,432
JBrowse link
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:1523039, PMID:8813877, PMID:25048963 NCBI chr 5:58,802,664...58,811,075
Ensembl chr 5:60,425,341...60,433,035
JBrowse link
G ODAD1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr19:45,297,346...45,322,895
Ensembl chr19:53,891,345...53,915,541
JBrowse link
G ODAD3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25192045, PMID:25224326 NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
JBrowse link
G POLR2K RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 NCBI chr 8:96,791,485...96,794,913
Ensembl chr 8:98,965,837...98,969,221
JBrowse link
G RSPH1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:26139845, PMID:28492532 NCBI chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610
JBrowse link
G RSPH3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779, PMID:28492532 NCBI chr 6:156,861,740...156,889,821
Ensembl chr 6:161,880,465...161,904,315
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23798057, PMID:24824133, PMID:25741868, PMID:28492532 NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
G SPAG1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112, PMID:25741868, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 8:96,798,887...96,882,982
Ensembl chr 8:98,977,469...99,054,849
JBrowse link
G ZMYND10 zinc finger MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23891469, PMID:23891471, PMID:28492532 NCBI chr 3:50,267,218...50,273,009
Ensembl chr 3:51,502,548...51,508,288
JBrowse link
primary ciliary dyskinesia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAI1 dynein axonemal intermediate chain 1 ISO OMIM NCBI chr 9:34,295,010...34,357,331
Ensembl chr 9:35,104,297...35,167,454
JBrowse link
primary ciliary dyskinesia 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF2 dynein axonemal assembly factor 2 ISO OMIM NCBI chr14:30,203,426...30,213,629
Ensembl chr14:48,513,696...48,522,800
JBrowse link
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 10 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr14:30,199,011...30,201,566 JBrowse link
primary ciliary dyskinesia 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPH4A radial spoke head component 4A ISO OMIM NCBI chr 6:114,423,322...114,441,199
Ensembl chr 6:118,568,907...118,585,812
JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPH9 radial spoke head component 9 ISO OMIM NCBI chr 6:43,234,531...43,261,040
Ensembl chr 6:44,524,408...44,550,569
JBrowse link
primary ciliary dyskinesia 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF1 dynein axonemal assembly factor 1 ISO OMIM NCBI chr16:64,810,498...64,843,705 JBrowse link
G TAF1C TATA-box binding protein associated factor, RNA polymerase I subunit C ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 13 ClinVar PMID:25741868 NCBI chr16:64,843,197...64,852,408
Ensembl chr16:84,184,928...84,194,147
JBrowse link
primary ciliary dyskinesia 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC39 coiled-coil domain containing 39 ISO OMIM NCBI chr 3:177,640,127...177,705,885
Ensembl chr 3:185,813,245...185,878,362
JBrowse link
G TTC14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 14 ClinVar PMID:21131972, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 3:177,628,616...177,644,785
Ensembl chr 3:185,801,388...185,817,540
JBrowse link
primary ciliary dyskinesia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC40 coiled-coil domain containing 40 ISO OMIM NCBI chr17:74,120,483...74,187,323
Ensembl chr17:79,656,287...79,722,565
JBrowse link
G GAA alpha glucosidase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:74,188,296...74,206,593
Ensembl chr17:79,723,699...79,741,839
JBrowse link
primary ciliary dyskinesia 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALDH6A1 aldehyde dehydrogenase 6 family member A1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,616,531...54,643,346
Ensembl chr14:73,472,255...73,495,734
JBrowse link
G BBOF1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,578,549...54,637,331
Ensembl chr14:73,434,030...73,478,079
JBrowse link
G COQ6 coenzyme Q6, monooxygenase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,509,514...54,522,310
Ensembl chr14:73,363,711...73,376,545
JBrowse link
G DNAL1 dynein axonemal light chain 1 ISO OMIM NCBI chr14:54,204,306...54,258,747
Ensembl chr14:73,062,108...73,112,026
JBrowse link
G ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5 (inactive) ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,522,428...54,578,501
Ensembl chr14:73,376,684...73,410,468
JBrowse link
G FAM161B FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,491,623...54,509,629
Ensembl chr14:73,347,103...73,364,026
JBrowse link
G LIN52 lin-52 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,643,652...54,760,308
Ensembl chr14:73,496,037...73,612,416
JBrowse link
G MIDEAS mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,274,444...54,349,983
Ensembl chr14:73,130,955...73,176,626
JBrowse link
G PNMA1 PNMA family member 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,271,102...54,273,695
Ensembl chr14:73,128,629...73,129,690
JBrowse link
G PTGR2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,410,939...54,444,595 JBrowse link
G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,797,734...54,821,081 JBrowse link
G ZNF410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr14:54,445,895...54,491,498
Ensembl chr14:73,299,907...73,346,286
JBrowse link
primary ciliary dyskinesia 17 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC103 coiled-coil domain containing 103 ISO OMIM NCBI chr17:12,416,623...12,423,251
Ensembl chr17:12,589,984...12,595,664
JBrowse link
G GFAP glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 17 ClinVar NCBI chr17:12,407,211...12,417,072
Ensembl chr17:12,579,754...12,591,961
JBrowse link
primary ciliary dyskinesia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF5 dynein axonemal assembly factor 5 ISO OMIM NCBI chr 7:875,482...938,560
Ensembl chr 7:1,095,732...1,154,740
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 18 ClinVar PMID:25741868, PMID:28492532, PMID:29363216 NCBI chr 7:700,691...876,497
Ensembl chr 7:923,668...1,097,456
JBrowse link
primary ciliary dyskinesia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC6 leucine rich repeat containing 6 ISO OMIM NCBI chr 8:129,223,591...129,329,535
Ensembl chr 8:132,199,607...132,305,351
JBrowse link
primary ciliary dyskinesia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF3 dynein axonemal assembly factor 3 ISO OMIM NCBI chr19:52,199,690...52,208,648 JBrowse link
G TNNI3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS ClinVar PMID:24033266, PMID:25741868 NCBI chr19:52,193,061...52,198,782
Ensembl chr19:60,887,630...60,894,219
JBrowse link
primary ciliary dyskinesia 20 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ODAD1 outer dynein arm docking complex subunit 1 ISO OMIM NCBI chr19:45,297,346...45,322,895
Ensembl chr19:53,891,345...53,915,541
JBrowse link
primary ciliary dyskinesia 21 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DRC1 dynein regulatory complex subunit 1 ISO OMIM NCBI chr2A:26,399,275...26,453,518
Ensembl chr2A:26,491,900...26,545,640
JBrowse link
primary ciliary dyskinesia 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMYND10 zinc finger MYND-type containing 10 ISO OMIM NCBI chr 3:50,267,218...50,273,009
Ensembl chr 3:51,502,548...51,508,288
JBrowse link
primary ciliary dyskinesia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100973318 armadillo repeat-containing protein 4 ISO OMIM NCBI chr10:27,959,535...28,133,143
Ensembl chr10:28,320,425...28,502,925
JBrowse link
primary ciliary dyskinesia 24 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPH1 radial spoke head component 1 ISO OMIM NCBI chr21:28,779,994...28,804,130
Ensembl chr21:42,098,212...42,121,610
JBrowse link
primary ciliary dyskinesia 25 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF4 dynein axonemal assembly factor 4 ISO OMIM NCBI chr15:34,382,064...34,469,432
Ensembl chr15:52,711,349...52,791,281
JBrowse link
primary ciliary dyskinesia 26 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP298 cilia and flagella associated protein 298 ISO OMIM NCBI chr21:18,944,205...18,982,229 JBrowse link
primary ciliary dyskinesia 27 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC65 coiled-coil domain containing 65 ISO OMIM NCBI chr12:39,829,171...39,845,221
Ensembl chr12:40,697,723...40,723,750
JBrowse link
primary ciliary dyskinesia 28 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR2K RNA polymerase II, I and III subunit K ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 28 ClinVar PMID:24055112 NCBI chr 8:96,791,485...96,794,913
Ensembl chr 8:98,965,837...98,969,221
JBrowse link
G SPAG1 sperm associated antigen 1 ISO OMIM NCBI chr 8:96,798,887...96,882,982
Ensembl chr 8:98,977,469...99,054,849
JBrowse link
primary ciliary dyskinesia 29 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCNO cyclin O ISO OMIM NCBI chr 5:58,796,177...58,798,797
Ensembl chr 5:60,418,890...60,421,475
JBrowse link
primary ciliary dyskinesia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM NCBI chr 5:13,989,114...14,316,855
Ensembl chr 5:13,851,391...14,093,358
JBrowse link
primary ciliary dyskinesia 30 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ODAD3 outer dynein arm docking complex subunit 3 ISO OMIM NCBI chr19:10,967,913...10,982,032
Ensembl chr19:11,678,306...11,693,332
JBrowse link
primary ciliary dyskinesia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RSPH3 radial spoke head 3 ISO OMIM NCBI chr 6:156,861,740...156,889,821
Ensembl chr 6:161,880,465...161,904,315
JBrowse link
primary ciliary dyskinesia 33 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS8 growth arrest specific 8 ISO OMIM NCBI chr16:70,777,446...70,806,437
Ensembl chr16:90,444,141...90,467,849
JBrowse link
primary ciliary dyskinesia 34 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAJB13 DnaJ heat shock protein family (Hsp40) member B13 ISO OMIM NCBI chr11:69,022,757...69,043,006
Ensembl chr11:72,330,992...72,349,858
JBrowse link
primary ciliary dyskinesia 35 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ODAD4 outer dynein arm docking complex subunit 4 ISO OMIM NCBI chr17:15,349,353...15,385,293
Ensembl chr17:15,570,316...15,603,787
JBrowse link
primary ciliary dyskinesia 36 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAAF6 dynein axonemal assembly factor 6 ISO OMIM NCBI chr  X:96,300,392...96,338,023
Ensembl chr  X:106,676,738...106,714,294
JBrowse link
primary ciliary dyskinesia 37 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAH1 dynein axonemal heavy chain 1 ISO OMIM NCBI chr 3:52,233,271...52,342,627
Ensembl chr 3:53,491,822...53,572,393
JBrowse link
primary ciliary dyskinesia 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP300 cilia and flagella associated protein 300 ISO OMIM NCBI chr11:96,997,736...97,034,422
Ensembl chr11:100,495,360...100,530,638
JBrowse link
primary ciliary dyskinesia 39 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC56 leucine rich repeat containing 56 ISO OMIM NCBI chr11:514,227...559,838
Ensembl chr11:575,495...588,750
JBrowse link
primary ciliary dyskinesia 40 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAH9 dynein axonemal heavy chain 9 ISO OMIM NCBI chr17:39,673,338...40,047,090
Ensembl chr17:44,422,928...44,796,983
JBrowse link
primary ciliary dyskinesia 41 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GAS2L2 growth arrest specific 2 like 2 ISO OMIM NCBI chr17:21,042,437...21,051,162
Ensembl chr17:21,337,138...21,345,487
JBrowse link
primary ciliary dyskinesia 42 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein ISO OMIM NCBI chr 5:58,802,664...58,811,075
Ensembl chr 5:60,425,341...60,433,035
JBrowse link
primary ciliary dyskinesia 43 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXJ1 forkhead box J1 ISO OMIM NCBI chr17:70,084,920...70,089,865
Ensembl chr17:75,638,634...75,641,666
JBrowse link
primary ciliary dyskinesia 44 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEK10 NIMA related kinase 10 ISO OMIM NCBI chr 3:27,002,397...27,257,856 JBrowse link
primary ciliary dyskinesia 45 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TTC12 tetratricopeptide repeat domain 12 ISO OMIM NCBI chr11:108,194,610...108,253,161
Ensembl chr11:112,037,620...112,106,537
JBrowse link
primary ciliary dyskinesia 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HYDIN HYDIN axonemal central pair apparatus protein ISO OMIM NCBI chr16:53,785,727...54,210,088
Ensembl chr16:70,661,924...71,063,631
JBrowse link
primary ciliary dyskinesia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NME8 NME/NM23 family member 8 ISO OMIM NCBI chr 7:38,128,610...38,536,611
Ensembl chr 7:38,708,937...38,757,795
JBrowse link
primary ciliary dyskinesia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDCA7L cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 7 ClinVar PMID:18022865, PMID:25741868, PMID:28492532 NCBI chr 7:22,501,225...22,632,357
Ensembl chr 7:21,897,798...21,944,329
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO OMIM NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485
JBrowse link
primary ciliary dyskinesia 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DNAI2 dynein axonemal intermediate chain 2 ISO OMIM NCBI chr17:68,212,341...68,253,732
Ensembl chr17:73,770,753...73,811,845
JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CENPF centromere protein F ISO OMIM NCBI chr 1:190,170,414...190,231,478
Ensembl chr 1:195,024,877...195,086,518
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12771
    sensory system disease 4826
      Otorhinolaryngologic Diseases 1102
        Ciliary Motility Disorders 102
          primary ciliary dyskinesia 93
            Kartagener syndrome 29
            Stromme syndrome 1
            primary ciliary dyskinesia 1 1
            primary ciliary dyskinesia 10 2
            primary ciliary dyskinesia 11 1
            primary ciliary dyskinesia 12 1
            primary ciliary dyskinesia 13 2
            primary ciliary dyskinesia 14 2
            primary ciliary dyskinesia 15 2
            primary ciliary dyskinesia 16 12
            primary ciliary dyskinesia 17 2
            primary ciliary dyskinesia 18 2
            primary ciliary dyskinesia 19 1
            primary ciliary dyskinesia 2 2
            primary ciliary dyskinesia 20 1
            primary ciliary dyskinesia 21 1
            primary ciliary dyskinesia 22 1
            primary ciliary dyskinesia 23 1
            primary ciliary dyskinesia 24 1
            primary ciliary dyskinesia 25 1
            primary ciliary dyskinesia 26 1
            primary ciliary dyskinesia 27 1
            primary ciliary dyskinesia 28 2
            primary ciliary dyskinesia 29 1
            primary ciliary dyskinesia 3 1
            primary ciliary dyskinesia 30 1
            primary ciliary dyskinesia 32 1
            primary ciliary dyskinesia 33 1
            primary ciliary dyskinesia 34 1
            primary ciliary dyskinesia 35 1
            primary ciliary dyskinesia 36 1
            primary ciliary dyskinesia 37 1
            primary ciliary dyskinesia 38 1
            primary ciliary dyskinesia 39 1
            primary ciliary dyskinesia 4 0
            primary ciliary dyskinesia 40 1
            primary ciliary dyskinesia 41 1
            primary ciliary dyskinesia 42 1
            primary ciliary dyskinesia 43 1
            primary ciliary dyskinesia 44 1
            primary ciliary dyskinesia 45 1
            primary ciliary dyskinesia 5 1
            primary ciliary dyskinesia 6 1
            primary ciliary dyskinesia 7 2
            primary ciliary dyskinesia 8 0
            primary ciliary dyskinesia 9 1
Path 2
Term Annotations click to browse term
  disease 12771
    Developmental Diseases 9044
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7866
        genetic disease 7409
          monogenic disease 5507
            ciliopathy 224
              Ciliary Motility Disorders 102
                primary ciliary dyskinesia 93
                  Kartagener syndrome 29
                  Stromme syndrome 1
                  primary ciliary dyskinesia 1 1
                  primary ciliary dyskinesia 10 2
                  primary ciliary dyskinesia 11 1
                  primary ciliary dyskinesia 12 1
                  primary ciliary dyskinesia 13 2
                  primary ciliary dyskinesia 14 2
                  primary ciliary dyskinesia 15 2
                  primary ciliary dyskinesia 16 12
                  primary ciliary dyskinesia 17 2
                  primary ciliary dyskinesia 18 2
                  primary ciliary dyskinesia 19 1
                  primary ciliary dyskinesia 2 2
                  primary ciliary dyskinesia 20 1
                  primary ciliary dyskinesia 21 1
                  primary ciliary dyskinesia 22 1
                  primary ciliary dyskinesia 23 1
                  primary ciliary dyskinesia 24 1
                  primary ciliary dyskinesia 25 1
                  primary ciliary dyskinesia 26 1
                  primary ciliary dyskinesia 27 1
                  primary ciliary dyskinesia 28 2
                  primary ciliary dyskinesia 29 1
                  primary ciliary dyskinesia 3 1
                  primary ciliary dyskinesia 30 1
                  primary ciliary dyskinesia 32 1
                  primary ciliary dyskinesia 33 1
                  primary ciliary dyskinesia 34 1
                  primary ciliary dyskinesia 35 1
                  primary ciliary dyskinesia 36 1
                  primary ciliary dyskinesia 37 1
                  primary ciliary dyskinesia 38 1
                  primary ciliary dyskinesia 39 1
                  primary ciliary dyskinesia 4 0
                  primary ciliary dyskinesia 40 1
                  primary ciliary dyskinesia 41 1
                  primary ciliary dyskinesia 42 1
                  primary ciliary dyskinesia 43 1
                  primary ciliary dyskinesia 44 1
                  primary ciliary dyskinesia 45 1
                  primary ciliary dyskinesia 5 1
                  primary ciliary dyskinesia 6 1
                  primary ciliary dyskinesia 7 2
                  primary ciliary dyskinesia 8 0
                  primary ciliary dyskinesia 9 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.