ONTOLOGY REPORT - ANNOTATIONS


Term:Ciliary Motility Disorders
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Accession:DOID:9001591 term browser browse the term
Definition:Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
Synonyms:exact_synonym: Ciliary Dyskinesia;   Ciliary Motility Disorder;   ICS;   Immotile Cilia Syndrome;   ciliary dyskinesias;   immotile cilia syndromes
 primary_id: MESH:D002925
 alt_id: RDO:0001578
For additional species annotation, visit the Alliance of Genome Resources.


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Ciliary Motility Disorders term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:8554872
G Dnah7 dynein, axonemal, heavy chain 7 JBrowse link 9
9
60,070,087
59,564,253
60,330,121
59,595,347
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G Ift122 intraflagellar transport 122 JBrowse link 4 147,756,574 147,826,983 RGD:11554173
G Inpp5e inositol polyphosphate-5-phosphatase E JBrowse link 3 3,843,307 3,856,154 RGD:11554173
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Ofd1 OFD1, centriole and centriolar satellite protein JBrowse link X 29,562,165 29,602,934 RGD:8554872
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:1599600
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:11554173
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
Kartagener syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:8554872
RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:13592920
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:13592920
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
RGD:11554173
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
RGD:11554173
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:11554173
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:734893
RGD:13592920
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:1601080
RGD:13592920
RGD:8554872
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:1601083
RGD:8554872
RGD:11554173
RGD:7240710
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
RGD:11554173
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mbl2 mannose binding lectin 2 JBrowse link 1 248,435,069 248,442,669 RGD:11250592
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph3 radial spoke head 3 JBrowse link 1 47,412,151 47,478,924 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
Meckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cc2d2a coiled-coil and C2 domain containing 2A JBrowse link 14 71,895,128 71,979,452 RGD:8554872
G Cep290 centrosomal protein 290 JBrowse link 7 40,217,269 40,306,327 RGD:8554872
G Mks1 MKS transition zone complex subunit 1 JBrowse link 10 75,149,814 75,160,481 RGD:7240710
RGD:8554872
RGD:11535078
RGD:11535074
RGD:11535068
RGD:11535065
RGD:11063991
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 RGD:8554872
G Tmem107 transmembrane protein 107 JBrowse link 10 55,653,694 55,656,270 RGD:8554872
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:8554872
Meckel syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem216 transmembrane protein 216 JBrowse link 1 226,601,201 226,606,417 RGD:7240710
RGD:8554872
RGD:11067331
Meckel syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem67 transmembrane protein 67 JBrowse link 5 25,666,138 25,721,056 RGD:7240710
RGD:8554872
RGD:11535945
RGD:11535082
RGD:11535080
RGD:11535078
RGD:11068761
RGD:11063991
primary ciliary dyskinesia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 JBrowse link 20 11,060,584 11,144,806 RGD:8554872
G Ak7 adenylate kinase 7 JBrowse link 6 129,538,648 129,606,960 RGD:8554872
G Ap1b1 adaptor related protein complex 1 subunit beta 1 JBrowse link 14 85,230,652 85,281,806 RGD:13592920
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Cby1 chibby family member 1, beta catenin antagonist JBrowse link 7 120,891,930 120,898,318 RGD:13592920
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:8554872
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:8554872
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:8554872
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:8554872
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:8554872
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:8554872
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:8554872
G Cryaa crystallin, alpha A JBrowse link 20 10,438,444 10,442,189 RGD:8554872
G Cstb cystatin B JBrowse link 20 10,966,357 10,968,399 RGD:8554872
G Daw1 dynein assembly factor with WD repeats 1 JBrowse link 9 88,964,530 89,001,568 RGD:13592920
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:8554872
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:8554872
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:8554872
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:8554872
RGD:13592920
G Dnah8 dynein, axonemal, heavy chain 8 JBrowse link 20 9,301,317 9,560,805 RGD:8554872
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:8554872
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:8554872
RGD:13592920
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:8554872
G Dpcd deleted in primary ciliary dyskinesia JBrowse link 1 265,298,872 265,318,521 RGD:13592920
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:8554872
G Foxj1 forkhead box J1 JBrowse link 10 105,282,090 105,289,396 RGD:13592920
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
G Gatd3a glutamine amidotransferase like class 1 domain containing 3A JBrowse link 20 11,244,353 11,252,450 RGD:8554872
G Gfap glial fibrillary acidic protein JBrowse link 10 90,990,762 90,999,435 RGD:8554872
G Hsf2bp heat shock transcription factor 2 binding protein JBrowse link 20 10,757,172 10,844,177 RGD:8554872
G LOC691354 hypothetical protein LOC691354 JBrowse link 5 165,464,832 165,491,375 RGD:13592920
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:8554872
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein JBrowse link 2 44,863,246 44,869,732 RGD:8554872
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 JBrowse link 20 10,265,826 10,275,298 RGD:8554872
G Pcsk5 proprotein convertase subtilisin/kexin type 5 JBrowse link 1 236,031,988 236,313,858 RGD:13592920
G Pde9a phosphodiesterase 9A JBrowse link 20 10,123,624 10,216,325 RGD:8554872
G Pdxk pyridoxal kinase JBrowse link 20 10,930,651 10,952,194 RGD:8554872
G Pknox1 PBX/knotted 1 homeobox 1 JBrowse link 20 10,331,608 10,358,922 RGD:8554872
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
G Pwp2 PWP2, small subunit processome component JBrowse link 20 11,228,892 11,243,204 RGD:8554872
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 14,271,012 14,331,745 RGD:8554872
G Rrp1 ribosomal RNA processing 1 JBrowse link 20 10,982,016 10,993,260 RGD:8554872
G Rrp1b ribosomal RNA processing 1B JBrowse link 20 10,844,234 10,869,830 RGD:8554872
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:8554872
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:8554872
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:8554872
G Sik1 salt-inducible kinase 1 JBrowse link 20 10,670,747 10,680,279 RGD:8554872
G Slc37a1 solute carrier family 37 member 1 JBrowse link 20 10,026,839 10,087,691 RGD:8554872
G Slit2 slit guidance ligand 2 JBrowse link 14 66,831,848 67,171,491 RGD:13592920
G Spef2 sperm flagellar 2 JBrowse link 2 58,901,937 59,084,194 RGD:13592920
G Synj1 synaptojanin 1 JBrowse link 11 31,105,784 31,181,573 RGD:8554872
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
G Tnnt1 troponin T1, slow skeletal type JBrowse link 1 72,889,270 72,899,629 RGD:8554872
G Trappc10 trafficking protein particle complex 10 JBrowse link 20 11,168,298 11,228,634 RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
G Ttll1 tubulin tyrosine ligase like 1 JBrowse link 7 124,338,396 124,367,719 RGD:13592920
G U2af1 U2 small nuclear RNA auxiliary factor 1 JBrowse link 20 10,396,652 10,407,564 RGD:8554872
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:8554872
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:8554872
primary ciliary dyskinesia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnai1 dynein, axonemal, intermediate chain 1 JBrowse link 5 57,947,796 58,017,985 RGD:13592920
primary ciliary dyskinesia 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf2 dynein, axonemal, assembly factor 2 JBrowse link 6 91,481,439 91,490,189 RGD:8554872
RGD:7240710
G Mgat2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase JBrowse link 6 91,476,698 91,479,187 RGD:8554872
primary ciliary dyskinesia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph4a radial spoke head component 4A JBrowse link 20 32,450,701 32,467,362 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 12 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph9 radial spoke head 9 homolog JBrowse link 9 17,224,589 17,245,093 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 13 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf1 dynein, axonemal, assembly factor 1 JBrowse link 19 52,217,427 52,245,930 RGD:8554872
RGD:7240710
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C JBrowse link 19 52,246,061 52,252,642 RGD:8554872
primary ciliary dyskinesia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc39 coiled-coil domain containing 39 JBrowse link 2 120,278,605 120,367,829 RGD:7240710
RGD:8554872
G Ttc14 tetratricopeptide repeat domain 14 JBrowse link 2 120,266,883 120,277,505 RGD:8554872
primary ciliary dyskinesia 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc40 coiled-coil domain containing 40 JBrowse link 10 108,055,270 108,393,408 RGD:7240710
RGD:8554872
G Gaa glucosidase, alpha, acid JBrowse link 10 108,395,873 108,412,999 RGD:8554872
primary ciliary dyskinesia 16 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnal1 dynein, axonemal, light chain 1 JBrowse link 6 107,596,785 107,623,869 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 17 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc103 coiled-coil domain containing 103 JBrowse link 10 90,984,213 90,987,829 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 18 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf5 dynein, axonemal, assembly factor 5 JBrowse link 12 17,545,468 17,584,466 RGD:8554872
RGD:7240710
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta JBrowse link 12 17,614,536 17,713,567 RGD:8554872
primary ciliary dyskinesia 19 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc6 leucine rich repeat containing 6 JBrowse link 7 107,130,402 107,231,507 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf3 dynein, axonemal, assembly factor 3 JBrowse link 1 72,874,131 72,882,867 RGD:7240710
RGD:8554872
G Tnni3 troponin I3, cardiac type JBrowse link 1 72,882,806 72,886,490 RGD:8554872
primary ciliary dyskinesia 20 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc114 coiled-coil domain containing 114 JBrowse link 1 101,904,042 101,932,999 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 21 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Drc1 dynein regulatory complex subunit 1 JBrowse link 6 27,425,237 27,460,038 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmynd10 zinc finger, MYND-type containing 10 JBrowse link 8 116,302,513 116,306,871 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Armc4 armadillo repeat containing 4 JBrowse link 17 60,283,926 60,474,289 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 24 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph1 radial spoke head component 1 JBrowse link 20 9,998,698 10,020,719 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 25 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnaaf4 dynein axonemal assembly factor 4 JBrowse link 8 79,637,678 79,651,892 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap298 cilia and flagella associated protein 298 JBrowse link 11 31,094,103 31,103,487 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc65 coiled-coil domain containing 65 JBrowse link 7 140,383,395 140,397,186 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 28 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Polr2k RNA polymerase II subunit K JBrowse link 7 74,939,010 74,992,594 RGD:8554872
G Spag1 sperm associated antigen 1 JBrowse link 7 74,994,379 75,054,294 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccno cyclin O JBrowse link 2 44,857,043 44,860,317 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah5 dynein, axonemal, heavy chain 5 JBrowse link 2
2
80,947,730
81,159,060
81,143,997
81,337,560
RGD:7240710
RGD:8554872
primary ciliary dyskinesia 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccdc151 coiled-coil domain containing 151 JBrowse link 8 23,000,912 23,014,707 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 32 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rsph3 radial spoke head 3 JBrowse link 1 47,412,151 47,478,924 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 33 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gas8 growth arrest specific 8 JBrowse link 19 56,316,367 56,335,873 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 34 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 JBrowse link 1 165,515,718 165,530,163 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ttc25 tetratricopeptide repeat domain 25 JBrowse link 10 88,459,490 88,488,237 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 36, X-Linked term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pih1d3 PIH1 domain containing 3 JBrowse link X 111,389,557 111,439,399 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 37 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah1 dynein, axonemal, heavy chain 1 JBrowse link 16 7,345,131 7,407,009 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 38 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cfap300 cilia and flagella associated protein 300 JBrowse link 8 6,218,391 6,236,438 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrrc56 leucine rich repeat containing 56 JBrowse link 1 214,182,232 214,197,184 RGD:8554872
RGD:7240710
Primary Ciliary Dyskinesia 40 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnah9 dynein, axonemal, heavy chain 9 JBrowse link 10 52,351,226 52,711,289 RGD:8554872
RGD:7240710
primary ciliary dyskinesia 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hydin Hydin, axonemal central pair apparatus protein JBrowse link 19 41,036,507 41,379,634 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nme8 NME/NM23 family member 8 JBrowse link 17 47,300,932 47,368,543 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdca7l cell division cycle associated 7 like JBrowse link 6 145,739,570 145,785,607 RGD:8554872
G Dnah11 dynein, axonemal, heavy chain 11 JBrowse link 6 145,784,893 146,099,212 RGD:7240710
RGD:8554872
primary ciliary dyskinesia 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnai2 dynein, axonemal, intermediate chain 2 JBrowse link 10 103,266,343 103,301,521 RGD:7240710
RGD:8554872
Stromme syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cenpf centromere protein F JBrowse link 13 108,132,499 108,178,609 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4730
      ciliopathy 192
        Ciliary Motility Disorders 93
          Ciliary Discoordination due to Random Ciliary Orientation 0
          Ciliary Dyskinesia with Transposition of Ciliary Microtubules 0
          Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
          Immotile Cilia Syndrome, due to Defective Radial Spokes 0
          Immotile Cilia Syndrome, due to Excessively Long Cilia 0
          Meckel syndrome 1 6
          Meckel syndrome 2 1
          Meckel syndrome 3 1
          Primary Ciliary Dyskinesia 36, X-Linked 1
          primary ciliary dyskinesia + 82
          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 1
          primary ciliary dyskinesia 17 1
          primary ciliary dyskinesia 18 2
          primary ciliary dyskinesia 19 1
          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 30 1
          primary ciliary dyskinesia 32 1
          primary ciliary dyskinesia 33 1
          primary ciliary dyskinesia 34 1
          primary ciliary dyskinesia 35 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Multiple Abnormalities 1281
            ciliopathy 192
              Ciliary Motility Disorders 93
                Ciliary Discoordination due to Random Ciliary Orientation 0
                Ciliary Dyskinesia with Transposition of Ciliary Microtubules 0
                Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia 0
                Immotile Cilia Syndrome, due to Defective Radial Spokes 0
                Immotile Cilia Syndrome, due to Excessively Long Cilia 0
                Meckel syndrome 1 6
                Meckel syndrome 2 1
                Meckel syndrome 3 1
                Primary Ciliary Dyskinesia 36, X-Linked 1
                primary ciliary dyskinesia + 82
                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 1
                primary ciliary dyskinesia 17 1
                primary ciliary dyskinesia 18 2
                primary ciliary dyskinesia 19 1
                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 30 1
                primary ciliary dyskinesia 32 1
                primary ciliary dyskinesia 33 1
                primary ciliary dyskinesia 34 1
                primary ciliary dyskinesia 35 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.