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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 Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:28492532 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
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 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Ift122 intraflagellar transport 122 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20493458 NCBI chr 4:148,905,031...148,975,458
Ensembl chr 4:148,905,046...148,975,458
JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO CTD Direct Evidence: marker/mechanism CTD PMID:19668215 PMID:19668216 NCBI chr 3:9,216,776...9,229,539
Ensembl chr 3:9,216,776...9,229,450
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Immotile cilia syndrome ClinVar PMID:28492532 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpgrip1l Rpgrip1-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:17558407 PMID:17558409 NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
JBrowse link
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp73 tumor protein p73 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly OMIM
ClinVar
PMID:34077761 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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 chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISS MouseDO NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:21131974 PMID:28492532 NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24747639 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31879361 More... NCBI chr 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
JBrowse link
G Cfap298 cilia and flagella associated protein 298 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24094744 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS MouseDO NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19944400 PMID:19944405 NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:24307375 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:19052621 PMID:24498942 NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:10745040 PMID:22387996 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23872636 NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:25927852 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 susceptibility ISO
ISS
DNA:nonsense mutation, missense mutation: :R2852X, R3004Q MouseDO
RGD
PMID:12142464 RGD:734893 NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 susceptibility ISO
ISS
DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
MouseDO
RGD
PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More... RGD:1601080 NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24307375 NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16858015 PMID:17576681 More... RGD:1601083 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:18950741 PMID:28492532 NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:21496787 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome
CTD
ClinVar
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,249
Ensembl chr10:101,566,304...101,570,237
JBrowse link
G Hydin Hydin, axonemal central pair apparatus protein ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:14985390 PMID:23022101 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Mbl2 mannose binding lectin 2 severity ISO DNA:haplotype:promoter: RGD PMID:24753481 RGD:11250592 NCBI chr 1:228,016,439...228,024,736 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 PMID:28492532 NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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 chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISS
ISO
ClinVar Annotator: match by term: Kartagener syndrome MouseDO
ClinVar
PMID:25192045 PMID:25224326 PMID:25741868 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:26073779 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:24055112 PMID:25741868 PMID:28492532 PMID:30067075 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Kartagener syndrome ClinVar PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:16199547 PMID:18950740 PMID:19777577 PMID:22241855 PMID:22425360 More... NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
JBrowse link
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar PMID:9536098 PMID:16199547 PMID:16909394 PMID:17345604 PMID:17409309 More... NCBI chr 7:35,310,071...35,399,392
Ensembl chr 7:35,310,199...35,399,392
JBrowse link
G Fto FTO, alpha-ketoglutarate dependent dioxygenase ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA ClinVar PMID:28492532 NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
JBrowse link
G LOC120095383 U8 small nucleolar RNA ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
JBrowse link
G Mks1 MKS transition zone complex subunit 1 ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | 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)
OMIM
ClinVar
RGD
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 More... RGD:11535078, RGD:11535074, RGD:11535068, RGD:11535065, RGD:11063991 NCBI chr10:72,655,921...72,667,007
Ensembl chr10:72,655,921...72,666,655
JBrowse link
G Rpgrip1l Rpgrip1-like ISO ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:17558407 PMID:17558409 PMID:19430481 PMID:20301500 PMID:21866095 More... NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar PMID:25741868 PMID:27571260 NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome ClinVar PMID:9375913 PMID:17377820 PMID:17397051 PMID:18414213 PMID:19058225 More... NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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
DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM
ClinVar
RGD
PMID:16199547 PMID:18414213 PMID:20036350 PMID:20301500 PMID:20512146 More... RGD:11067331 NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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-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
OMIM
ClinVar
RGD
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 More... RGD:11535945, RGD:11535082, RGD:11535082, RGD:11535080, RGD:11535078, RGD:11068761, RGD:11063991 NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
JBrowse link
G Tmem67wpk transmembrane protein 67; wpk mutant IAGP RGD PMID:16415887 RGD:11535082
primary ciliary dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg1 ATP binding cassette subfamily G member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948
JBrowse link
G Adarb1 adenosine deaminase, RNA-specific, B1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852
JBrowse link
G Agpat3 1-acylglycerol-3-phosphate O-acyltransferase 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358
JBrowse link
G Aire autoimmune regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060
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 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961
JBrowse link
G Ap1b1 adaptor related protein complex 1 subunit beta 1 ISS MouseDO NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778
JBrowse link
G C2cd2 C2 calcium-dependent domain containing 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764
JBrowse link
G Cby1 chibby family member 1, beta catenin antagonist ISS MouseDO NCBI chr 7:111,216,835...111,223,305 JBrowse link
G Ccdc103 coiled-coil domain containing 103 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:22581229 PMID:23891469 PMID:24033266 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G Ccdc39 coiled-coil domain containing 39 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22693285 More... NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ccdc40 coiled-coil domain containing 40 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21131974 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Ccdc65 coiled-coil domain containing 65 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
JBrowse link
G Ccno cyclin O ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:24033266 PMID:24747639 PMID:25741868 PMID:26139845 More... NCBI chr 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
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:25741868 PMID:26139845 PMID:28492532 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
JBrowse link
G Cfap221 cilia and flagella associated protein 221 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:31636325 NCBI chr13:31,046,550...31,118,141
Ensembl chr13:31,046,535...31,116,899
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 chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
JBrowse link
G Cfap410 cilia and flagella associated protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737
JBrowse link
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:32764743 NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
JBrowse link
G Cryaa crystallin, alpha A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349
JBrowse link
G Cstb cystatin B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526
JBrowse link
G Cybb cytochrome b-245 beta chain ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,360,583...13,392,517
Ensembl chr  X:13,359,430...13,392,586
JBrowse link
G Daw1 dynein assembly factor with WD repeats 1 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
JBrowse link
G Dnaaf1 dynein, axonemal, assembly factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:19052621 PMID:24033266 PMID:24498942 More... NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Dnaaf3 dynein, axonemal, assembly factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:10745040 PMID:16199547 PMID:17576681 PMID:22387996 More... NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Dnaaf4 dynein axonemal assembly factor 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23872636 PMID:24033266 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23040496 PMID:24033266 More... NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
JBrowse link
G Dnaaf6 dynein axonemal assembly factor 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:30067075 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18022865 PMID:20513915 More... NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
JBrowse link
G Dnah5 dynein, axonemal, heavy chain 5 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11788826 More... NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
JBrowse link
G Dnah7 dynein, axonemal, heavy chain 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
JBrowse link
G Dnah8 dynein, axonemal, heavy chain 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24307375 More... NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
JBrowse link
G Dnah9 dynein, axonemal, heavy chain 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 More... NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnai2 dynein, axonemal, intermediate chain 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:23261302 More... NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
JBrowse link
G Dnajb13 DnaJ heat shock protein family (Hsp40) member B13 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Dnmt3l DNA methyltransferase 3 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,614,933...10,629,516
Ensembl chr20:10,614,934...10,629,516
JBrowse link
G Dpcd deleted in primary ciliary dyskinesia ISS MouseDO NCBI chr 1:244,408,710...244,426,891
Ensembl chr 1:244,408,785...244,426,888
JBrowse link
G Drc1 dynein regulatory complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:12746204 PMID:16199547 PMID:17576681 PMID:23354437 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
JBrowse link
G Dynlt3 dynein light chain Tctex-type 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,327,933...13,337,139
Ensembl chr  X:13,327,892...13,337,139
JBrowse link
G Fam126a family with sequence similarity 126, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
JBrowse link
G FAM187A family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
JBrowse link
G Foxj1 forkhead box J1 ISS MouseDO NCBI chr10:101,566,299...101,570,249
Ensembl chr10:101,566,304...101,570,237
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:18414213 PMID:23757202 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
JBrowse link
G Gas2l2 growth arrest-specific 2 like 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:30665704 NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
JBrowse link
G Gas8 growth arrest specific 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
JBrowse link
G Gatd3a glutamine amidotransferase class 1 domain containing 3A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
G Gprc6a G protein-coupled receptor, class C, group 6, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412
JBrowse link
G H2ap H2A.P histone ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,907,962...12,908,516 JBrowse link
G Hsf2bp heat shock transcription factor 2 binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242
JBrowse link
G Icoslg inducible T-cell co-stimulator ligand ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703
JBrowse link
G Il6 interleukin 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Itgb2 integrin subunit beta 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078
JBrowse link
G Krtap12-2 keratin associated protein 12-2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,904,257...10,904,751 JBrowse link
G Krtap12-4 keratin associated protein 12-4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,910,203...10,911,281 JBrowse link
G LOC100365646 hypothetical protein LOC100365646 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,799,355...10,800,354
Ensembl chr20:10,799,355...10,800,215
JBrowse link
G LOC690460 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,888,588...10,896,525 JBrowse link
G LOC690478 similar to keratin associated protein 10-7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526
JBrowse link
G LOC691354 hypothetical protein LOC691354 ISS MouseDO NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
JBrowse link
G Lrr1 leucine rich repeat protein 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894
JBrowse link
G Lrrc3 leucine rich repeat containing 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067
JBrowse link
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
JBrowse link
G Mcidas multiciliate differentiation and DNA synthesis associated cell cycle protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 PMID:28492532 NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
JBrowse link
G Mcm3ap minichromosome maintenance complex component 3 associated protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165
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 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
JBrowse link
G Ndufv3 NADH:ubiquinone oxidoreductase subunit V3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
JBrowse link
G Odad1 outer dynein arm docking complex subunit 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
JBrowse link
G Odad3 outer dynein arm docking complex subunit 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:31373179 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Otc ornithine transcarbamylase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,453,834...12,529,954
Ensembl chr  X:12,453,834...12,566,918
JBrowse link
G Pcbp3 poly(rC) binding protein 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210
JBrowse link
G Pcnt pericentrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISS MouseDO NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600
JBrowse link
G Pde9a phosphodiesterase 9A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948
JBrowse link
G Pfkl phosphofructokinase, liver type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315
JBrowse link
G Pknox1 PBX/knotted 1 homeobox 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727
JBrowse link
G Pofut2 protein O-fucosyltransferase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743
JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305
JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Prdm15 PR/SET domain 15 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
JBrowse link
G Pttg1ip PTTG1 interacting protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316
JBrowse link
G Pwp2 PWP2, small subunit processome component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rapgef5 Rap guanine nucleotide exchange factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:138,445,127...138,679,943
Ensembl chr 6:138,437,991...138,679,936
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147
JBrowse link
G RGD1564149 similar to Protein C21orf58 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017
JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799
JBrowse link
G Rn7sl1 RNA component of signal recognition particle 7SL1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103
JBrowse link
G Rpgr retinitis pigmentosa GTPase regulator ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:8673101 PMID:9399904 PMID:9536098 PMID:9855162 PMID:10480356 More... NCBI chr  X:12,566,447...12,628,171
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Rpl36al ribosomal protein L36A-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,654,808...87,656,202
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr10:97,766,179...97,768,892
JBrowse link
G Rps29 ribosomal protein S29 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:87,635,229...87,636,605
Ensembl chr 6:87,635,230...87,636,636
JBrowse link
G Rrp1 ribosomal RNA processing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144
JBrowse link
G Rrp1b ribosomal RNA processing 1B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928
JBrowse link
G Rsph1 radial spoke head component 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:19200523 PMID:23798057 PMID:23993197 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:16199547 PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 More... NCBI chr 9:14,839,565...14,860,062
Ensembl chr 9:14,840,115...14,860,062
JBrowse link
G Sik1 salt-inducible kinase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972
JBrowse link
G Slc37a1 solute carrier family 37 member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892
JBrowse link
G Slit2 slit guidance ligand 2 ISS MouseDO NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
JBrowse link
G Slx9 SLX9 ribosome biogenesis factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521
JBrowse link
G Sp4 Sp4 transcription factor ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:24055112 PMID:25741868 PMID:28492532 PMID:30067075 NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
JBrowse link
G Spatc1l spermatogenesis and centriole associated 1-like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301
JBrowse link
G Spef2 sperm flagellar 2 ISS
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia MouseDO
ClinVar
PMID:31942643 NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664
JBrowse link
G Srpx sushi-repeat-containing protein, X-linked ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,676,984...12,751,296
Ensembl chr  X:12,566,645...12,747,882
JBrowse link
G Sumo3 small ubiquitin-like modifier 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:11,010,140...11,020,850
Ensembl chr20:11,007,148...11,020,877
Ensembl chr20:11,007,148...11,020,877
JBrowse link
G Sun1 Sad1 and UNC84 domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr12:15,396,378...15,441,277
Ensembl chr12:15,396,381...15,441,571
JBrowse link
G Sytl5 synaptotagmin-like 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:12,775,529...13,030,134
Ensembl chr  X:12,788,698...13,030,175
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 PMID:28492532 NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
JBrowse link
G Tff1 trefoil factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597
JBrowse link
G Tff2 trefoil factor 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619
JBrowse link
G Tff3 trefoil factor 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
JBrowse link
G Tmprss3 transmembrane serine protease 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363
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 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
JBrowse link
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074
JBrowse link
G Trpm2 transient receptor potential cation channel, subfamily M, member 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181
JBrowse link
G Tspear thrombospondin-type laminin G domain and EAR repeats ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:23255504 More... NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
JBrowse link
G Ttll1 TTL family tubulin polyglutamylase complex subunit L1 ISS MouseDO NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761
JBrowse link
G U2af1 U2 small nuclear RNA auxiliary factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832
JBrowse link
G Ubash3a ubiquitin associated and SH3 domain containing, A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224
JBrowse link
G Ube2g2 ubiquitin-conjugating enzyme E2G 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447
JBrowse link
G Umodl1 uromodulin-like 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146
JBrowse link
G Wdr4 WD repeat domain 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581
JBrowse link
G Xk X-linked Kx blood group ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr  X:13,436,412...13,472,830
Ensembl chr  X:13,436,418...13,472,830
JBrowse link
G Ybey ybeY metalloendoribonuclease ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713
JBrowse link
G Zbtb21 zinc finger and BTB domain containing 21 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr11:37,311,860...37,327,040
Ensembl chr11:37,312,378...37,326,996
JBrowse link
G Zmynd10 zinc finger, MYND-type containing 10 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:9536098 PMID:17576681 PMID:23891469 PMID:23891471 PMID:25741868 More... NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia ClinVar PMID:28492532 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306
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 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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 term: Primary ciliary dyskinesia 10 OMIM
ClinVar
PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 More... NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
JBrowse link
G Mgat2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177
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: Primary ciliary dyskinesia 11 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:19200523 PMID:23798057 PMID:23993197 More... NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
JBrowse link
primary ciliary dyskinesia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 ClinVar PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852
JBrowse link
G Rsph9 radial spoke head component 9 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 12 OMIM
ClinVar
PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:14,839,565...14,860,062
Ensembl chr 9:14,840,115...14,860,062
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 term: Primary ciliary dyskinesia 13 OMIM
ClinVar
PMID:16199547 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 More... NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
JBrowse link
G Taf1c TATA-box binding protein associated factor, RNA polymerase 1 subunit C ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 ClinVar PMID:25741868 NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971
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: Primary ciliary dyskinesia 14 OMIM
ClinVar
PMID:16199547 PMID:21131972 PMID:22693285 PMID:22693295 PMID:23255504 More... NCBI chr 2:116,665,261...116,703,364
Ensembl chr 2:116,665,261...116,703,350
JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 ClinVar PMID:21131972 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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: Primary ciliary dyskinesia 15 OMIM
ClinVar
PMID:21131974 PMID:22499950 PMID:22693285 PMID:23255504 PMID:23261302 More... NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
JBrowse link
G Gaa alpha glucosidase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 15 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836
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: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
JBrowse link
G Coq6 coenzyme Q6 monooxygenase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
JBrowse link
G Dnal1 dynein, axonemal, light chain 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 OMIM
ClinVar
PMID:21496787 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878
JBrowse link
G Entpd5 ectonucleoside triphosphate diphosphohydrolase 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
JBrowse link
G Fam161b FAM161 centrosomal protein B ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
JBrowse link
G Lin52 lin-52 DREAM MuvB core complex component ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,098,818...104,199,323
Ensembl chr 6:104,099,162...104,194,103
JBrowse link
G Mideas mitotic deacetylase associated SANT domain protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:103,787,873...103,829,178
JBrowse link
G Pnma1 PNMA family member 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567
JBrowse link
G Ptgr2 prostaglandin reductase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,931,367...103,963,113
Ensembl chr 6:103,931,409...103,963,111
JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018
JBrowse link
G Zfp410 zinc finger protein 410 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 16 ClinVar PMID:28492532 NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:103,964,060...103,990,225
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: Primary ciliary dyskinesia 17 OMIM
ClinVar
PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More... NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
JBrowse link
G FAM187A family with sequence similarity 187, member A ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
JBrowse link
G Gfap glial fibrillary acidic protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 17 ClinVar NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
JBrowse link
primary ciliary dyskinesia 18 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 NCBI chr14:1,184,638...1,216,392 JBrowse link
G Dnaaf5 dynein, axonemal, assembly factor 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 OMIM
ClinVar
PMID:23040496 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29358401 More... NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 18 ClinVar PMID:25741868 PMID:28492532 PMID:29363216 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942
JBrowse link
primary ciliary dyskinesia 19 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnaaf11 dynein axonemal assembly factor 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23122589 PMID:23527195 PMID:23891469 More... NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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: Primary ciliary dyskinesia 2 OMIM
ClinVar
PMID:10745040 PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
JBrowse link
G Tnni3 troponin I3, cardiac type ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580
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: Primary ciliary dyskinesia 20 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More... NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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: Primary ciliary dyskinesia 21 OMIM
ClinVar
PMID:12746204 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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: Primary ciliary dyskinesia 22 OMIM
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:28492532 NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More... NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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 OMIM
ClinVar
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More... NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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: Primary ciliary dyskinesia 25 OMIM
ClinVar
PMID:12954984 PMID:23872636 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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: Primary ciliary dyskinesia 26 OMIM
ClinVar
PMID:24094744 PMID:25741868 PMID:28492532 NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346
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: Primary ciliary dyskinesia 27 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:23991085 PMID:24033266 PMID:24094744 More... NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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: Primary ciliary dyskinesia 28 ClinVar PMID:24055112 NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668
JBrowse link
G Spag1 sperm associated antigen 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 28 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:24033266 PMID:24055112 PMID:25741868 More... NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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: Primary ciliary dyskinesia 29 OMIM
ClinVar
PMID:24747639 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31879361 More... NCBI chr 2:44,630,640...44,633,914
Ensembl chr 2:44,626,369...44,633,914
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: Primary ciliary dyskinesia 3 OMIM
ClinVar
PMID:2127064 PMID:2389146 PMID:9536098 PMID:11788826 PMID:11912187 More... NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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: Primary ciliary dyskinesia 30 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 More... NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
JBrowse link
primary ciliary dyskinesia 32 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlt1 dynein light chain Tctex-type 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
JBrowse link
G Ezr ezrin ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505
JBrowse link
G Fndc1 fibronectin type III domain containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259
JBrowse link
G Gtf2h5 general transcription factor IIH subunit 5 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939
JBrowse link
G Rsph3 radial spoke head 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:26073779 PMID:26167114 More... NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
JBrowse link
G Serac1 serine active site containing 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727
JBrowse link
G Sod2 superoxide dismutase 2 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Sytl3 synaptotagmin-like 3 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460
JBrowse link
G Tagap T-cell activation RhoGTPase activating protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792
JBrowse link
G Tmem181 transmembrane protein 181 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295
JBrowse link
G Tulp4 TUB like protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 32 ClinVar PMID:28492532 NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688
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: Primary ciliary dyskinesia 33 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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: Primary ciliary dyskinesia 34 OMIM
ClinVar
PMID:25741868 PMID:27486783 PMID:28492532 NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963
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: Primary ciliary dyskinesia 35 OMIM
ClinVar
PMID:25741868 PMID:27486780 NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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 OMIM
ClinVar
PMID:25741868 PMID:28041644 PMID:28492532 PMID:32170493 NCBI chr  X:103,724,419...103,775,633
Ensembl chr  X:103,731,857...103,775,629
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:24033266 PMID:24360805 PMID:25741868 PMID:25927852 PMID:27573432 More... NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29727692 PMID:29727693 NCBI chr 8:5,180,180...5,198,840
Ensembl chr 8:5,180,675...5,198,807
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 OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:30388400 NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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 OMIM
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:30471717 PMID:30471718 NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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 chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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:24033266 PMID:25048963 PMID:25741868 More... NCBI chr 2:44,636,581...44,643,730
Ensembl chr 2:44,636,856...44,642,601
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 PMID:33077954 NCBI chr10:101,566,299...101,570,249
Ensembl chr10:101,566,304...101,570,237
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 OMIM
ClinVar
PMID:25741868 NCBI chr15:10,387,063...10,564,177
Ensembl chr15:10,381,140...10,559,722
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 PMID:25741868 NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087
JBrowse link
Primary Ciliary Dyskinesia 46 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Stk36 serine/threonine kinase 36 ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 OMIM
ClinVar
PMID:28543983 NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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: Primary ciliary dyskinesia 5 OMIM
ClinVar
PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
JBrowse link
primary ciliary dyskinesia 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Anln anillin, actin binding protein ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538
JBrowse link
G Aoah acyloxyacyl hydrolase ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:43,808,110...44,049,458
Ensembl chr17:43,809,638...44,049,148
JBrowse link
G Elmo1 engulfment and cell motility 1 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:44,286,495...44,822,788
Ensembl chr17:44,286,485...44,822,788
JBrowse link
G Gpr141 G protein-coupled receptor 141 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:45,177,056...45,199,267
Ensembl chr17:45,117,812...45,180,027
JBrowse link
G Nme8 NME/NM23 family member 8 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 OMIM
ClinVar
PMID:9536098 PMID:17360648 PMID:17576681 PMID:24033266 PMID:25741868 More... NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
JBrowse link
G RGD1561444 similar to RIKEN cDNA 9530077C05 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:20,921,244...20,971,069
JBrowse link
G Sfrp4 secreted frizzled-related protein 4 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 ClinVar PMID:28492532 NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736
JBrowse link
primary ciliary dyskinesia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdca7l cell division cycle associated 7 like ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 ClinVar PMID:18022865 PMID:22184204 PMID:25741868 PMID:28492532 PMID:29997923 More... NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
JBrowse link
G Dnah11 dynein, axonemal, heavy chain 11 ISO ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 OMIM
ClinVar
PMID:9536098 PMID:9585585 PMID:12142464 PMID:17576681 PMID:18022865 More... NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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: Primary ciliary dyskinesia 9 OMIM
ClinVar
PMID:18950741 PMID:23261302 PMID:23891469 PMID:24033266 PMID:25741868 More... NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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: Stromme syndrome OMIM
ClinVar
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 More... NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    sensory system disease 6551
      Otorhinolaryngologic Diseases 1649
        Ciliary Motility Disorders 199
          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 8
          Meckel syndrome 2 1
          Meckel syndrome 3 3
          primary ciliary dyskinesia + 186
          primary ciliary dyskinesia 20 1
          primary ciliary dyskinesia 23 1
          primary ciliary dyskinesia 24 1
          primary ciliary dyskinesia 26 1
          primary ciliary dyskinesia 27 1
          primary ciliary dyskinesia 30 1
          primary ciliary dyskinesia 32 11
          primary ciliary dyskinesia 33 1
          primary ciliary dyskinesia 34 1
Path 2
Term Annotations click to browse term
  disease 18110
    Developmental Disease 12861
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11545
        genetic disease 11079
          monogenic disease 8550
            ciliopathy 660
              Ciliary Motility Disorders 199
                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 8
                Meckel syndrome 2 1
                Meckel syndrome 3 3
                primary ciliary dyskinesia + 186
                primary ciliary dyskinesia 20 1
                primary ciliary dyskinesia 23 1
                primary ciliary dyskinesia 24 1
                primary ciliary dyskinesia 26 1
                primary ciliary dyskinesia 27 1
                primary ciliary dyskinesia 30 1
                primary ciliary dyskinesia 32 11
                primary ciliary dyskinesia 33 1
                primary ciliary dyskinesia 34 1
paths to the root