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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: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: ICS;   ciliary dyskinesia;   ciliary dyskinesias;   ciliary motility disorder;   immotile cilia syndrome;   immotile cilia syndromes
 primary_id: MESH:D002925
 alt_id: RDO:0001578
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Ciliary Motility Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:147,756,574...147,826,983
Ensembl chr 4:147,756,553...147,826,997
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215, PMID:19668216 NCBI chr 3:3,843,307...3,856,154
Ensembl chr 3:3,843,307...3,855,981
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) RGD PMID:16055928 RGD:1599600 NCBI chr  X:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407, PMID:17558409 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:22876777, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
JBrowse link
Kartagener syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21131974, PMID:28492532, PMID:31443223 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
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 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400, PMID:19944405 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621, PMID:24498942 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:10745040, PMID:22387996, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO PMID:12142464 RGD:734893 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
MouseDO
PMID:19357118, PMID:19630565, PMID:23477994, PMID:28492532, PMID:11788826 RGD:1601080 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 susceptibility ISO DNA:missense mutation, insertion, deletion:exon, intron:p.G515S
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar Annotator: match by term: Primary ciliary dyskinesia
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:244400
ClinVar
CTD
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, PMID:11231901 RGD:1601083 NCBI chr 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
PMID:18950741 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390, PMID:23022101 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
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 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:248,435,069...248,442,669
Ensembl chr 1:248,723,397...248,729,962
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 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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 chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:23806086, PMID:23849778, PMID:24088041, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO
ISS
ClinVar Annotator: match by term: Kartagener syndrome ClinVar
MouseDO
PMID:25192045, PMID:25224326 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
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 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
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 chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779, PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
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 chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
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 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link
Meckel syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cc2d2a coiled-coil and C2 domain containing 2A ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Gruber syndrome
ClinVar PMID:18950740, PMID:19777577, PMID:22241855, PMID:22425360, PMID:23012439, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26477546, PMID:26485645, PMID:27081510, PMID:27082236, PMID:28492532, PMID:30311386 NCBI chr14:71,895,128...71,979,452
Ensembl chr14:71,895,246...71,973,419
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:16909394, PMID:17345604, PMID:17564967, PMID:17564974, PMID:17705300, PMID:17964524, PMID:19466712, PMID:19764032, PMID:20079931, PMID:20683928, PMID:20690115, PMID:21153841, PMID:21245082, PMID:21602930, PMID:21866095, PMID:23027964, PMID:23188109, PMID:23344081, PMID:23351400, PMID:23559409, PMID:24265693, PMID:24850569, PMID:25377065, PMID:25741868, PMID:25920555, PMID:26047050, PMID:26092869, PMID:26673778, PMID:28041643, PMID:28492532, PMID:28497568, PMID:28559085, PMID:28829391, PMID:29398085, PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: Meckel syndrome type 1
DNA:splice-site mutations:intron:c.870-2A>G, c.1546+1G¿¿¿>A (human)
DNA:deletion:intron:IVS15-7_35del (human)
DNA:splice-site mutation:intron:c.515 + 6T>C (mouse)
DNA:missense mutations, splice-site mutations:exon:c.417G>A, c.958G>A (p.V320I), c.1490G>A (p.R497K) (human)
ClinVar Annotator: match by OMIM:249000
ClinVar Annotator: match by null
OMIM
ClinVar
PMID:16415886, PMID:17185389, PMID:17377820, PMID:17397051, PMID:17437276, PMID:17935508, PMID:18327255, PMID:19430481, PMID:21068128, PMID:21258341, PMID:23351400, PMID:23736532, PMID:24033266, PMID:25741868, PMID:25966130, PMID:26092869, PMID:26490104, PMID:27377014, PMID:28224992, PMID:28492532, PMID:28497568, PMID:30718709, PMID:23351400, PMID:17935508, PMID:19776033, PMID:21045211, PMID:17397051 RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:75,149,814...75,160,481
Ensembl chr10:75,149,814...75,160,480
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar PMID:17558409, PMID:19430481, PMID:25741868, PMID:28492532 NCBI chr19:17,115,266...17,208,055
Ensembl chr19:17,115,412...17,208,055
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome type 1 ClinVar PMID:25741868, PMID:27571260 NCBI chr10:55,653,694...55,656,270
Ensembl chr10:55,653,946...55,656,270
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar Annotator: match by term: Meckel syndrome type 1
ClinVar PMID:9375913, PMID:10508989, PMID:17377820, PMID:17397051, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21866095, PMID:23559409, PMID:24033266, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26729329, PMID:27491411, PMID:28431631, PMID:28492532, PMID:29891882, PMID:30311386 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
Meckel syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem216 transmembrane protein 216 ISO ClinVar Annotator: match by term: Meckel syndrome, type 2
ClinVar Annotator: match by term: Meckel syndrome type 2
ClinVar Annotator: match by OMIM:603194
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
PMID:18414213, PMID:20036350, PMID:20301500, PMID:20512146, PMID:22282472, PMID:23351400, PMID:24033266, PMID:25741868, PMID:26092869, PMID:26467025, PMID:26673778, PMID:28492532, PMID:28497568, PMID:20512146 RGD:11067331 NCBI chr 1:226,601,201...226,606,417
Ensembl chr 1:226,601,201...226,606,344
JBrowse link
Meckel syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem67 transmembrane protein 67 ISO
IAGP
ClinVar Annotator: match by term: Meckel syndrome, type 3
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 3
ClinVar Annotator: match by term: Meckel syndrome type 3
DNA:deletion
DNA:deletions, missense mutation, splice-site mutations: :multiple
DNA:missense mutation:exon:p.P394L (rat)
DNA:missense mutation:exon:p.R549C (c.1645C>T) (human)
DNA:missense mutations: :p.M252T (c.755T>C), p.R441C (c.1392C>T) (human)
DNA:missense mutations:exon: p.M252T (755T>C), p.R440Q (1319G>A), p.L966P (2897T>C) (human)
DNA:missense mutations, splice-site mutation:exon:multiple
ClinVar Annotator: match by OMIM:607361
OMIM
ClinVar
PMID:2929661, PMID:9375913, PMID:10508989, PMID:16415887, PMID:16541367, PMID:17160906, PMID:17185389, PMID:17377820, PMID:17397051, PMID:18327255, PMID:18414213, PMID:19058225, PMID:19466712, PMID:19508969, PMID:19540516, PMID:19574260, PMID:19778711, PMID:20232449, PMID:20607301, PMID:21068128, PMID:21633164, PMID:21866095, PMID:22121117, PMID:23351400, PMID:23559409, PMID:25326635, PMID:25729630, PMID:25741868, PMID:25920555, PMID:26035863, PMID:26092869, PMID:26467025, PMID:26729329, PMID:27491411, PMID:28289063, PMID:28431631, PMID:28492532, PMID:28497568, PMID:28973083, PMID:29127258, PMID:29891882, PMID:29974258, PMID:30311386, PMID:19211713, PMID:16415887, PMID:16415887, PMID:26191240, PMID:23351400, PMID:17377820, PMID:17397051 RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,666,138...25,721,056
Ensembl chr 5:25,666,137...25,721,072
JBrowse link
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 chr20:11,060,584...11,144,806
Ensembl chr20:11,114,164...11,144,806
JBrowse link
G Ak7 adenylate kinase 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18776131, PMID:20537283, PMID:22801010 NCBI chr 6:129,538,648...129,606,960
Ensembl chr 6:129,538,982...129,606,932
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:85,230,652...85,281,806
Ensembl chr14:85,230,648...85,281,803
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISS MouseDO NCBI chr 7:120,891,930...120,898,318
Ensembl chr 7:120,891,940...120,897,687
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 chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
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 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
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 chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 7:140,383,395...140,397,186
Ensembl chr 7:140,383,397...140,397,179
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 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
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 6:145,739,570...145,785,607
Ensembl chr 6:145,740,035...145,785,606
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 chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,438,444...10,442,189
Ensembl chr20:10,438,444...10,442,187
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,966,357...10,968,399
Ensembl chr20:10,966,331...10,968,432
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Primary ciliary Dyskinesia ClinVar NCBI chr  X:14,578,330...14,610,049
Ensembl chr  X:14,578,264...14,612,547
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:88,964,530...89,001,568
Ensembl chr 9:88,964,525...89,001,567
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 chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
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 chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
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 chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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 chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
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 chr12:17,545,468...17,584,466
Ensembl chr12:17,545,468...17,584,466
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
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: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 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar
MouseDO
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 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:60,070,087...60,330,121
NCBI chr 9:59,564,253...59,595,347
Ensembl chr 9:60,070,739...60,330,125
Ensembl chr 9:60,070,739...60,330,125
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 chr20:9,301,317...9,560,805
Ensembl chr20:9,313,271...9,560,682
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:52,351,226...52,711,289
Ensembl chr10:52,351,192...52,710,862
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 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISO
ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar
MouseDO
PMID:18950741, PMID:23261302, PMID:23891469, PMID:24033266, PMID:25741868, PMID:25802884, PMID:28492532 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
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 chr 1:165,515,718...165,530,163
Ensembl chr 1:165,515,726...165,530,095
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 chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS MouseDO NCBI chr 1:265,298,872...265,318,521
Ensembl chr 1:265,298,868...265,317,860
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:105,282,090...105,289,396 JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213, PMID:23757202, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISS MouseDO NCBI chr10:70,639,429...70,646,402
Ensembl chr10:70,639,862...70,646,495
JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr19:56,316,367...56,335,873
Ensembl chr19:56,316,268...56,335,870
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 chr20:11,244,353...11,252,450
Ensembl chr20:11,244,353...11,252,449
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,757,172...10,844,177
Ensembl chr20:10,757,854...10,844,178
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:165,464,832...165,491,375
Ensembl chr 5:165,465,095...165,481,914
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 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
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 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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 chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,265,826...10,275,298
Ensembl chr20:10,265,806...10,275,304
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 chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
JBrowse link
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:23806086, PMID:23849778, PMID:24033266, PMID:24088041, PMID:25741868, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
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:29,562,165...29,602,934
Ensembl chr  X:29,562,165...29,602,925
JBrowse link
G Otc ornithine carbamoyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,524,804...13,601,074
Ensembl chr  X:13,524,607...13,601,069
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS MouseDO NCBI chr 1:236,031,988...236,313,858
Ensembl chr 1:236,031,988...236,313,858
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,123,624...10,216,325
Ensembl chr20:10,123,651...10,216,548
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,331,608...10,358,922
Ensembl chr20:10,334,308...10,358,922
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 chr12:17,614,536...17,713,567
Ensembl chr12:17,614,632...17,712,373
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 chr 4:99,795,646...99,822,960
Ensembl chr 4:99,795,656...99,822,992
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,228,892...11,243,204
Ensembl chr20:11,228,844...11,243,205
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868, PMID:28492532 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
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:14,271,012...14,331,745
Ensembl chr  X:14,271,017...14,331,486
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,982,016...10,993,260
Ensembl chr20:10,981,998...10,993,280
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,844,234...10,869,830
Ensembl chr20:10,844,266...10,869,821
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 chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
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 chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
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 9:17,224,589...17,245,093
Ensembl chr 9:17,225,122...17,245,093
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,670,747...10,680,279
Ensembl chr20:10,668,411...10,680,283
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,026,839...10,087,691
Ensembl chr20:10,032,641...10,087,688
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:66,831,848...67,171,491
Ensembl chr14:66,831,848...67,170,361
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 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
JBrowse link
G Spef2 sperm flagellar 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:31942643 NCBI chr 2:58,901,937...59,084,194
Ensembl chr 2:58,901,939...59,181,863
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:19944400, PMID:19944405, PMID:24033266 NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
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 chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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 chr 1:72,889,270...72,899,629
Ensembl chr 1:72,889,270...72,899,659
JBrowse link
G Trappc10 trafficking protein particle complex 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,168,298...11,228,634
Ensembl chr20:11,168,298...11,228,625
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 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
JBrowse link
G Ttll1 tubulin tyrosine ligase like 1 ISS MouseDO NCBI chr 7:124,338,396...124,367,719
Ensembl chr 7:124,338,395...124,367,630
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,396,652...10,407,564
Ensembl chr20:10,396,621...10,407,554
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,240,571...10,264,818
Ensembl chr20:10,239,154...10,257,044
JBrowse link
G Zfp18 zinc finger protein 18 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 NCBI chr10:52,327,668...52,350,944
Ensembl chr10:52,334,240...52,348,692
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 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
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 5:57,947,796...58,017,985
Ensembl chr 5:57,947,716...58,017,992
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 ClinVar Annotator: match by OMIM:612518
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 10
ClinVar
OMIM
PMID:19052621, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
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 chr 6:91,476,698...91,479,187
Ensembl chr 6:91,476,698...91,479,183
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 11
ClinVar Annotator: match by OMIM:612649
OMIM
ClinVar
PMID:19200523, PMID:22448264, PMID:23798057, PMID:23993197, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr20:32,450,701...32,467,362
Ensembl chr20:32,450,733...32,467,194
Ensembl chr20:32,450,733...32,467,194
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 12
ClinVar Annotator: match by OMIM:612650
OMIM
ClinVar
PMID:19200523, PMID:23993197, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 9:17,224,589...17,245,093
Ensembl chr 9:17,225,122...17,245,093
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 ClinVar Annotator: match by OMIM:613193
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 13
ClinVar
OMIM
PMID:19944400, PMID:19944405, PMID:22499950, PMID:23599692, PMID:24033266, PMID:24498942, PMID:25158045, PMID:25741868, PMID:27884173, PMID:28492532 NCBI chr19:52,217,427...52,245,930
Ensembl chr19:52,217,984...52,245,929
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 13 ClinVar PMID:25741868 NCBI chr19:52,246,061...52,252,642
Ensembl chr19:52,246,068...52,252,587
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 14
ClinVar Annotator: match by OMIM:613807
OMIM
ClinVar
PMID:21131972, PMID:22693285, PMID:22693295, PMID:23255504, PMID:24033266, PMID:25118008, PMID:25186273, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30067075 NCBI chr 2:120,278,605...120,367,829
Ensembl chr 2:120,278,605...120,316,600
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 2:120,266,883...120,277,505
Ensembl chr 2:120,266,933...120,276,616
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15
ClinVar Annotator: match by OMIM:613808
OMIM
ClinVar
PMID:21131974, PMID:22499950, PMID:22693285, PMID:23255504, PMID:23261302, PMID:23891469, PMID:24033266, PMID:25619595, PMID:25741868, PMID:25877373, PMID:26228299, PMID:28492532 NCBI chr10:108,055,270...108,393,408
Ensembl chr10:108,340,240...108,372,862
JBrowse link
G Gaa glucosidase, alpha, acid ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 15 ClinVar PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr10:108,395,873...108,412,999
Ensembl chr10:108,395,860...108,413,059
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 chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,123,855...108,149,613
Ensembl chr 6:108,123,816...108,149,607
JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,076,393...108,087,782
Ensembl chr 6:108,076,306...108,087,696
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16
ClinVar Annotator: match by OMIM:614017
OMIM
ClinVar
PMID:21496787, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:107,596,785...107,623,869
Ensembl chr 6:107,596,782...107,625,214
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,087,677...108,123,811
Ensembl chr 6:108,087,418...108,120,579
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,060,019...108,076,303
Ensembl chr 6:108,061,063...108,076,186
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 chr 6:108,167,412...108,264,459
Ensembl chr 6:108,167,716...108,178,508
JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,633,762...107,703,462
Ensembl chr 6:107,633,716...107,678,156
JBrowse link
G Pnma1 PNMA family member 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,631,227...107,633,012
Ensembl chr 6:107,631,227...107,633,012
JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:107,999,832...108,031,645
Ensembl chr 6:107,999,846...108,031,643
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,285,031...108,308,588
Ensembl chr 6:108,285,822...108,308,587
JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 16 ClinVar PMID:28492532 NCBI chr 6:108,031,747...108,058,836
Ensembl chr 6:108,032,856...108,058,809
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 17
ClinVar Annotator: match by OMIM:614679
OMIM
ClinVar
PMID:22581229, PMID:23891469, PMID:24033266, PMID:24357714, PMID:25326635, PMID:25741868, PMID:26123568, PMID:27637300, PMID:28492532, PMID:28790179, PMID:30311386 NCBI chr10:90,984,213...90,987,829
Ensembl chr10:90,984,227...90,987,823
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 17 ClinVar NCBI chr10:90,990,762...90,999,435
Ensembl chr10:90,990,762...90,999,506
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 18 ClinVar
OMIM
PMID:23040496, PMID:25741868, PMID:28492532, PMID:29358401, PMID:29363216 NCBI chr12:17,545,468...17,584,466
Ensembl chr12:17,545,468...17,584,466
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 chr12:17,614,536...17,713,567
Ensembl chr12:17,614,632...17,712,373
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 19
OMIM
ClinVar
PMID:8066563, PMID:12162599, PMID:14656747, PMID:19606528, PMID:23122589, PMID:23527195, PMID:23891469, PMID:24033266, PMID:24307375, PMID:25741868, PMID:27637300, PMID:28492532, PMID:30311386 NCBI chr 7:107,130,402...107,231,507
Ensembl chr 7:107,130,402...107,223,047
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 2
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 2, WITH OR WITHOUT SITUS INVERSUS
ClinVar Annotator: match by OMIM:606763
OMIM
ClinVar
PMID:10745040, PMID:22387996, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 1:72,874,131...72,882,867
Ensembl chr 1:72,874,404...72,883,002
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 chr 1:72,882,806...72,886,490
Ensembl chr 1:72,882,806...72,886,488
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 20
ClinVar Annotator: match by This custom term has been created by RGD curators.
OMIM
ClinVar
PMID:23261302, PMID:23261303, PMID:25741868, PMID:28492532 NCBI chr 1:101,904,042...101,932,999
Ensembl chr 1:101,906,903...101,932,998
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 21
ClinVar Annotator: match by OMIM:615294
OMIM
ClinVar
PMID:12746204, PMID:23354437, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 6:27,425,237...27,460,038
Ensembl chr 6:27,425,235...27,460,038
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 22 OMIM
ClinVar
PMID:23891469, PMID:23891471, PMID:25741868, PMID:28492532 NCBI chr 8:116,302,513...116,306,871
Ensembl chr 8:116,302,513...116,306,870
JBrowse link
primary ciliary dyskinesia 23 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odad2 outer dynein arm docking complex subunit 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 23
ClinVar Annotator: match by OMIM:615451
OMIM
ClinVar
PMID:23806086, PMID:23849778, PMID:24033266, PMID:24088041, PMID:24203976, PMID:25741868, PMID:28492532 NCBI chr17:60,283,926...60,474,289
Ensembl chr17:60,287,203...60,474,031
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 ClinVar Annotator: match by term: Primary ciliary dyskinesia 24
ClinVar Annotator: match by OMIM:615481
OMIM
ClinVar
PMID:23993197, PMID:24033266, PMID:24518672, PMID:24568568, PMID:25741868, PMID:26139845, PMID:28492532 NCBI chr20:9,998,698...10,020,719
Ensembl chr20:9,998,701...10,013,559
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 25, WITH OR WITHOUT SITUS INVERSUS
ClinVar Annotator: match by term: Primary ciliary dyskinesia 25
ClinVar Annotator: match by OMIM:615482
OMIM
ClinVar
PMID:23872636, PMID:25741868, PMID:28492532 NCBI chr 8:79,637,678...79,651,892
Ensembl chr 8:79,638,696...79,651,884
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 26
ClinVar Annotator: match by OMIM:615500
OMIM
ClinVar
PMID:24094744, PMID:25741868, PMID:28492532 NCBI chr11:31,094,103...31,103,487
Ensembl chr11:31,094,084...31,103,520
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 27 OMIM
ClinVar
PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr 7:140,383,395...140,397,186
Ensembl chr 7:140,383,397...140,397,179
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 7:74,939,010...74,992,594
Ensembl chr 7:74,989,223...74,992,582
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 28
ClinVar Annotator: match by OMIM:615505
OMIM
ClinVar
PMID:24033266, PMID:24055112, PMID:25741868, PMID:26139845, PMID:26228299, PMID:27637300, PMID:28492532 NCBI chr 7:74,994,379...75,054,294
Ensembl chr 7:74,994,605...75,054,293
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 29 OMIM
ClinVar
PMID:24747639, PMID:25741868, PMID:28492532 NCBI chr 2:44,857,043...44,860,317
Ensembl chr 2:44,857,213...44,860,315
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 3
ClinVar Annotator: match by OMIM:608644
OMIM
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:24267886, PMID:24498942, PMID:25066065, PMID:25118008, PMID:25186273, PMID:25326635, PMID:25741868, PMID:25802884, PMID:26139845, PMID:26228299, PMID:26918822, PMID:26938784, PMID:27637300, PMID:28492532, PMID:29402277, PMID:29453417, PMID:30311386 NCBI chr 2:80,947,730...81,143,997
NCBI chr 2:81,159,060...81,337,560
Ensembl chr 2:80,948,658...81,143,447
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 30 ClinVar
OMIM
PMID:24033266, PMID:25192045, PMID:25224326, PMID:25741868, PMID:28492532 NCBI chr 8:23,000,912...23,014,707
Ensembl chr 8:23,000,872...23,014,499
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 32 ClinVar
OMIM
PMID:26073779, PMID:28492532 NCBI chr 1:47,412,151...47,478,924
Ensembl chr 1:47,426,258...47,477,524
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 33
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 33
ClinVar
OMIM
PMID:25741868, PMID:26387594, PMID:28492532 NCBI chr19:56,316,367...56,335,873
Ensembl chr19:56,316,268...56,335,870
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 34
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 34
ClinVar
OMIM
PMID:25741868, PMID:27486783, PMID:28492532 NCBI chr 1:165,515,718...165,530,163
Ensembl chr 1:165,515,726...165,530,095
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 35
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 35
ClinVar
OMIM
PMID:25741868, PMID:27486780 NCBI chr10:88,459,490...88,488,237
Ensembl chr10:88,459,490...88,488,237
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 36, X-LINKED
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked
ClinVar
OMIM
PMID:25741868, PMID:28041644, PMID:32170493 NCBI chr  X:111,389,557...111,439,399
Ensembl chr  X:111,396,995...111,439,376
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37 OMIM
ClinVar
PMID:25927852 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38 ClinVar
OMIM
PMID:29727692, PMID:29727693 NCBI chr 8:6,218,391...6,236,438
Ensembl chr 8:6,218,393...6,235,967
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 39 ClinVar
OMIM
PMID:30388400 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 40 ClinVar
OMIM
PMID:30471717, PMID:30471718 NCBI chr10:52,351,226...52,711,289
Ensembl chr10:52,351,192...52,710,862
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 41 OMIM
ClinVar
PMID:30665704 NCBI chr10:70,639,429...70,646,402
Ensembl chr10:70,639,862...70,646,495
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42 OMIM
ClinVar
PMID:1523039, PMID:8813877, PMID:25048963, PMID:30237576 NCBI chr 2:44,863,246...44,869,732
Ensembl chr 2:44,863,252...44,870,536
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 43 OMIM
ClinVar
PMID:31630787 NCBI chr10:105,282,090...105,289,396 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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 44 ClinVar
OMIM
NCBI chr15:11,627,133...11,830,647
Ensembl chr15:11,632,759...11,812,485
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 ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45 OMIM
ClinVar
PMID:1978331 NCBI chr 8:53,770,685...53,818,873
Ensembl chr 8:53,770,681...53,816,447
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 5
ClinVar Annotator: match by OMIM:608647
OMIM
ClinVar
PMID:14985390, PMID:23022101, PMID:23849777, PMID:24033266, PMID:25741868 NCBI chr19:41,036,507...41,379,634
Ensembl chr19:41,036,510...41,379,588
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 6
ClinVar Annotator: match by OMIM:610852
OMIM
ClinVar
PMID:17360648, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr17:47,300,932...47,368,543
Ensembl chr17:47,301,511...47,368,553
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 null
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 7
ClinVar PMID:18022865, PMID:25741868, PMID:28492532 NCBI chr 6:145,739,570...145,785,607
Ensembl chr 6:145,740,035...145,785,606
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 7
ClinVar Annotator: match by OMIM:611884
OMIM
ClinVar
PMID:2690980, PMID:9585585, PMID:12142464, PMID:18022865, PMID:20301301, PMID:22102620, PMID:24033266, PMID:24450482, PMID:25741868, PMID:26139845, PMID:26729821, PMID:27637300, PMID:28492532, PMID:32860008 NCBI chr 6:145,784,893...146,099,212
Ensembl chr 6:145,785,275...146,099,053
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 9
ClinVar Annotator: match by OMIM:612444
OMIM
ClinVar
PMID:18950741, PMID:23261302, PMID:23891469, PMID:24033266, PMID:25741868, PMID:25802884, PMID:28492532 NCBI chr10:103,266,343...103,301,521
Ensembl chr10:103,266,296...103,301,544
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 ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 31
ClinVar Annotator: match by term: Stromme syndrome
ClinVar Annotator: match by OMIM:243605
ClinVar
OMIM
PMID:8261651, PMID:25564561, PMID:25741868, PMID:26820108, PMID:28407396 NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      Otorhinolaryngologic Diseases 1190
        Ciliary Motility Disorders 110
          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 + 101
          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 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 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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            ciliopathy 227
              Ciliary Motility Disorders 110
                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 + 101
                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 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 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.