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
Accession: DOID:9001591
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
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Dnah5
dynein, axonemal, heavy chain 5
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia
ClinVar
PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:19763152 PMID:20301301 PMID:20307669 PMID:21270641 PMID:22406018 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:24905662 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27428751 PMID:27618201 PMID:27637300 PMID:27637763 PMID:27779714 PMID:27988889 PMID:28492532 PMID:28939216 PMID:28976722 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30148830 PMID:30290127 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31469207 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32111882 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:33574797 PMID:33577779 PMID:33589394 PMID:33635012 PMID:33715250 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dnah8
dynein, axonemal, heavy chain 8
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24307375 PMID:25741868 PMID:28492532 PMID:31213628 PMID:32037394 PMID:32619401 PMID:32681648 More...
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
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Dnai1
dynein, axonemal, intermediate chain 1
ISO
ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME | ClinVar Annotator: match by term: Immotile cilia syndrome
ClinVar
PMID:11231901 PMID:16858015 PMID:19300481 PMID:21143860 PMID:25741868 PMID:25802884 PMID:28492532 PMID:30868567 More...
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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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
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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
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Rpgr
retinitis pigmentosa GTPase regulator
ISO
associated with Retinitis Pigmentosa 3;DNA:exon, intron:g.631_IVS6+9del (human) ClinVar Annotator: match by term: Ciliary dyskinesia | ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME
ClinVar RGD
PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 PMID:9536098 PMID:9855162 PMID:9990021 PMID:10480356 PMID:10482958 PMID:10737996 PMID:10932196 PMID:10937588 PMID:10946359 PMID:11180598 PMID:11754050 PMID:11793468 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:12859409 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16786505 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:17898302 PMID:18332319 PMID:18487280 PMID:18552978 PMID:19138872 PMID:19218993 PMID:19475717 PMID:19783189 PMID:19815619 PMID:20631154 PMID:20861475 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22382802 PMID:22494545 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23591405 PMID:23681342 PMID:23847139 PMID:23950152 PMID:24033266 PMID:25097241 PMID:25356976 PMID:25640679 PMID:25741868 PMID:26261414 PMID:26747767 PMID:26766544 PMID:27620828 PMID:27768226 PMID:28041643 PMID:28127548 PMID:28322733 PMID:28492532 PMID:28559085 PMID:28863407 PMID:28912962 PMID:29276052 PMID:29453956 PMID:29528978 PMID:29555955 PMID:29641573 PMID:29721948 PMID:29785639 PMID:30029497 PMID:30067075 PMID:30105367 PMID:30193314 PMID:30337596 PMID:30543658 PMID:30622176 PMID:30718709 PMID:30902645 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31456290 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32000842 PMID:32037395 PMID:32531858 PMID:32679846 PMID:32702353 PMID:32788070 PMID:32856788 PMID:33090715 PMID:33355362 PMID:33546218 PMID:33576794 PMID:34906470 PMID:34946927 PMID:35892439 PMID:16055928 More...
RGD:1599600
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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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
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME
ClinVar
PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:28492532 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: IMMOTILE CILIA SYNDROME
ClinVar
PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 PMID:34513534 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Tp73
tumor protein p73
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly
OMIM ClinVar
PMID:25741868 PMID:34077761
NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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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
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C5h1orf127
similar to human chromosome 1 open reading frame 127
ISS
MouseDO
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Ccdc103
coiled-coil domain containing 103
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22581229
NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISS
MouseDO
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome
CTD ClinVar
PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31443223 PMID:31650533 PMID:31772028 PMID:31879361 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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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
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:19944400 PMID:19944405 PMID:28492532
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23122589 PMID:23891469 PMID:24307375 PMID:26139845 PMID:28492532
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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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
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Dnaaf3
dynein, axonemal, assembly factor 3
ISO ISS
CTD Direct Evidence: marker/mechanism
CTD MouseDO
PMID:22387996
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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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
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:25927852 PMID:28492532 PMID:32719396
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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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
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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 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31443223 PMID:11788826 More...
RGD:1601080
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dnai1
dynein, axonemal, intermediate chain 1
susceptibility
ISO ISS
DNA:missense mutation, insertion, deletion:exon, intron:p.G515S ClinVar Annotator: match by term: Kartagener syndrome CTD Direct Evidence: marker/mechanism
ClinVar MouseDO CTD RGD
PMID:9536098 PMID:10577904 PMID:11231901 PMID:16199547 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:19675306 PMID:21143860 PMID:21270641 PMID:22416021 PMID:23477994 PMID:24033266 PMID:24498942 PMID:24912412 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29363216 PMID:30067075 PMID:30868567 PMID:31589614 PMID:33032373 PMID:33447612 PMID:11231901 More...
RGD:1601083
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Dnai2
dynein, axonemal, intermediate chain 2
ISS
MouseDO
NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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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
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Drc1
dynein regulatory complex subunit 1
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Kartagener syndrome
CTD MouseDO ClinVar
PMID:23354437 PMID:25741868
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Foxj1
forkhead box J1
ISS
MouseDO
NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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Mbl2
mannose binding lectin 2
severity
ISO
DNA:haplotype:promoter:
RGD
PMID:24753481
RGD:11250592
NCBI chr 1:228,016,439...228,024,736
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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 PMID:27637300 PMID:28492532 More...
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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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
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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 PMID:28492532
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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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
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 PMID:28492532 PMID:34513534 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Slit2
slit guidance ligand 2
ISS
MouseDO
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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Zmynd10
zinc finger, MYND-type containing 10
ISO
ClinVar Annotator: match by term: Kartagener syndrome
ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:33635866 More...
NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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B9d1
B9 domain containing 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:46,186,222...46,196,309
Ensembl chr10:46,186,691...46,196,008
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B9d2
B9 domain containing 2
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:81,189,395...81,195,383
Ensembl chr 1:81,189,405...81,195,356
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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
PMID:3631907 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:18950740 PMID:19466712 PMID:19574260 PMID:19777577 PMID:21068128 PMID:22241855 PMID:22246503 PMID:22425360 PMID:23012439 PMID:23351400 PMID:24033266 PMID:24360807 PMID:25525159 PMID:25741868 PMID:26092869 PMID:26477546 PMID:26485645 PMID:26673778 PMID:27081510 PMID:27082236 PMID:27959436 PMID:28125082 PMID:28492532 PMID:28518168 PMID:29146704 PMID:31618753 PMID:31964843 PMID:32461654 PMID:32488064 PMID:34194672 More...
NCBI chr14:67,349,004...67,435,883
Ensembl chr14:67,351,353...67,435,949
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Cep290
centrosomal protein 290
ISO
ClinVar Annotator: match by term: DYSENCEPHALIA SPLANCHNOCYSTICA | ClinVar Annotator: match by term: Dysencephalia splachnocystica ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 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 Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:9536098 PMID:16199547 PMID:16682970 PMID:16682973 PMID:16909394 PMID:17345604 PMID:17409309 PMID:17564967 PMID:17564974 PMID:17576681 PMID:17705300 PMID:17964524 PMID:18414213 PMID:19466712 PMID:19764032 PMID:19959640 PMID:20079931 PMID:20301475 PMID:20683928 PMID:20690115 PMID:21068128 PMID:21153841 PMID:21245082 PMID:21493627 PMID:21602930 PMID:21866095 PMID:22334370 PMID:22355252 PMID:22693042 PMID:23027964 PMID:23188109 PMID:23343883 PMID:23344081 PMID:23351400 PMID:23559409 PMID:23591405 PMID:23847139 PMID:23954617 PMID:24474277 PMID:25097241 PMID:25377065 PMID:25445212 PMID:25525159 PMID:25741868 PMID:25818971 PMID:25920555 PMID:26047050 PMID:26062849 PMID:26092869 PMID:26467025 PMID:26529047 PMID:26673778 PMID:27208204 PMID:27353947 PMID:27422788 PMID:28041643 PMID:28157192 PMID:28453600 PMID:28492532 PMID:28497568 PMID:28559085 PMID:28829391 PMID:29146704 PMID:29178642 PMID:29217415 PMID:29343940 PMID:29398085 PMID:29482223 PMID:29588463 PMID:29641573 PMID:29754767 PMID:29844330 PMID:29974258 PMID:30190494 PMID:30193310 PMID:30559420 PMID:30718709 PMID:30902645 PMID:31054281 PMID:31091803 PMID:31411728 PMID:31630094 PMID:31734136 PMID:31877679 PMID:31884610 PMID:31970223 PMID:32036094 PMID:32037395 PMID:32139166 PMID:32165824 PMID:32208788 PMID:32600475 PMID:32856788 PMID:32865313 PMID:33105651 PMID:33308271 PMID:33502066 PMID:33532864 PMID:33546218 PMID:33574314 PMID:33924653 PMID:33946315 PMID:33970760 PMID:34196655 PMID:34906470 PMID:35764379 PMID:36909829 More...
NCBI chr 7:35,310,071...35,399,388
Ensembl chr 7:35,310,199...35,399,392
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1 ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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Hoxb6
homeo box B6
ISO
ClinVar Annotator: match by term: Meckel syndrome, type 1
ClinVar
PMID:25741868
NCBI chr10:81,258,726...81,267,458
Ensembl chr10:81,265,056...81,267,449
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Mks1
MKS transition zone complex subunit 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica | ClinVar Annotator: match by term: Gruber syndrome | ClinVar Annotator: match by term: Meckel syndrome, type 1 CTD Direct Evidence: marker/mechanism 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 CTD RGD
PMID:9536098 PMID:16199547 PMID:16415886 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17437276 PMID:17576681 PMID:17935508 PMID:18327255 PMID:19430481 PMID:19466712 PMID:20301500 PMID:21068128 PMID:21228398 PMID:21258341 PMID:23169490 PMID:23351400 PMID:23602711 PMID:23736532 PMID:24033266 PMID:24608809 PMID:24886560 PMID:25363768 PMID:25741868 PMID:26092869 PMID:26490104 PMID:26862157 PMID:27353947 PMID:27377014 PMID:27570071 PMID:28224992 PMID:28492532 PMID:28497568 PMID:28771248 PMID:29620724 PMID:30055837 PMID:30076350 PMID:30679815 PMID:30718709 PMID:30902645 PMID:31191208 PMID:31456290 PMID:31964843 PMID:33584783 PMID:34008892 PMID:34011629 PMID:34359301 PMID:34582790 PMID:35587316 PMID:23351400 PMID:17935508 PMID:19776033 PMID:21045211 PMID:17397051 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
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Nphp3
nephrocystin 3
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 8:104,621,908...104,662,383
Ensembl chr 8:104,621,864...104,662,383
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Rlig1
RNA 5'-phosphate and 3'-OH ligase 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:25741868 PMID:28492532 PMID:34196655
NCBI chr 7:35,396,876...35,408,633
Ensembl chr 7:35,397,995...35,409,600
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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:9536098 PMID:16199547 PMID:17558407 PMID:17558409 PMID:17576681 PMID:17960139 PMID:18414213 PMID:18565097 PMID:19430481 PMID:20301500 PMID:21068128 PMID:21866095 PMID:25741868 PMID:26092869 PMID:27434533 PMID:28492532 PMID:28771248 PMID:31390572 PMID:36468023 More...
NCBI chr19:15,692,189...15,785,083
Ensembl chr19:15,692,150...15,785,083
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Snord118
small nucleolar RNA, C/D box 118
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946
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Tctn1
tectonic family member 1
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:21725307 PMID:22693042 PMID:25741868 PMID:27894351 PMID:28492532
NCBI chr12:34,309,795...34,347,190
Ensembl chr12:34,309,897...34,342,267
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Tmem107
transmembrane protein 107
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 1
ClinVar
PMID:25741868 PMID:27571260
NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
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Tmem231
transmembrane protein 231
ISO
ClinVar Annotator: match by term: Dysencephalia splachnocystica
ClinVar
PMID:9536098 PMID:17576681 PMID:23349226 PMID:25558065 PMID:25741868 PMID:25869670 PMID:28492532 More...
NCBI chr19:39,883,077...39,904,296
Ensembl chr19:39,883,077...39,904,269
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Tmem67
transmembrane protein 67
ISO
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:2929661 PMID:9375913 PMID:9536098 PMID:17160906 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21633164 PMID:21866095 PMID:22700954 PMID:23034536 PMID:23351400 PMID:23559409 PMID:24033266 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26729329 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29891882 PMID:34964473 More...
NCBI chr 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334
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Tmem216
transmembrane protein 216
ISO
ClinVar Annotator: match by term: MECKEL-GRUBER SYNDROME, TYPE 2 | ClinVar Annotator: match by term: Meckel syndrome, type 2 CTD Direct Evidence: marker/mechanism DNA:missense,frameshift,nonsense mutations:cds,splice junction:
OMIM ClinVar CTD RGD
PMID:16199547 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 More...
RGD:11067331
NCBI chr 1:207,196,454...207,201,704
Ensembl chr 1:207,196,454...207,201,754
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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 CTD Direct Evidence: marker/mechanism 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 CTD RGD
PMID:2929661 PMID:9375913 PMID:9536098 PMID:16199547 PMID:16415887 PMID:16541367 PMID:17160906 PMID:17185389 PMID:17377820 PMID:17397051 PMID:17576681 PMID:18327255 PMID:18414213 PMID:19058225 PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20232449 PMID:20607301 PMID:21068128 PMID:21493627 PMID:21633164 PMID:21866095 PMID:22121117 PMID:22700954 PMID:23351400 PMID:23559409 PMID:24033266 PMID:24039893 PMID:25326635 PMID:25412400 PMID:25741868 PMID:25920555 PMID:26035863 PMID:26092869 PMID:26123494 PMID:26191240 PMID:26275793 PMID:26467025 PMID:26546361 PMID:26729329 PMID:27491411 PMID:28125082 PMID:28289063 PMID:28431631 PMID:28492532 PMID:28497568 PMID:28680603 PMID:28771248 PMID:28973083 PMID:29127258 PMID:29146704 PMID:29261186 PMID:29891882 PMID:29974258 PMID:30029678 PMID:30476936 PMID:31411728 PMID:32000717 PMID:34032358 PMID:34675960 PMID:26035863 PMID:19211713 PMID:16415887 PMID:16415887 PMID:26191240 PMID:23351400 PMID:17377820 PMID:17397051 More...
RGD:329950577 , 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
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Tmem67wpk
transmembrane protein 67; wpk mutant
IAGP
RGD
PMID:16415887
RGD:11535082
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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
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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
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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
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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
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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
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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
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Aptx
aprataxin
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855
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Aqp3
aquaporin 3 (Gill blood group)
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720
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Aqp7
aquaporin 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642
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Arhgef39
Rho guanine nucleotide exchange factor 39
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109
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Arid3c
AT-rich interaction domain 3C
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888
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Atosb
atos homolog B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892
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B4galt1
beta-1,4-galactosyltransferase 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461
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Bag1
BAG cochaperone 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
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C20h21orf58
similar to human chromosome 21 open reading frame 58
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
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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
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C5h1orf127
similar to human chromosome 1 open reading frame 127
ISS
MouseDO
NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369
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Cacna2d2
calcium voltage-gated channel auxiliary subunit alpha2delta 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173
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Camkv
CaM kinase-like vesicle-associated
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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Car9
carbonic anhydrase 9
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838
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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
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Cby1
chibby 1, beta catenin antagonist
ISS
MouseDO
NCBI chr 7:111,216,835...111,223,305
G
Ccdc103
coiled-coil domain containing 103
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 PMID:30067075 PMID:35626283 PMID:37673932 More...
NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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Ccdc107
coiled-coil domain containing 107
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:21131972 PMID:22406018 PMID:22499950 PMID:22693285 PMID:22693295 PMID:23255504 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25118008 PMID:25186273 PMID:25640679 PMID:25741868 PMID:27637300 PMID:28230599 PMID:28492532 PMID:29748307 PMID:30067075 PMID:31213628 PMID:31469207 PMID:31650533 PMID:31772028 PMID:31980526 PMID:32253119 PMID:33005176 PMID:33577779 PMID:33942430 PMID:34768622 More...
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 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:30067075 PMID:31213628 PMID:31443223 PMID:31507630 PMID:31589614 PMID:31650533 PMID:31765523 PMID:31772028 PMID:31879361 PMID:31980526 PMID:32502479 PMID:33715250 PMID:34134972 PMID:34768622 PMID:35626283 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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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
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Ccin
calicin
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951
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Ccl19
C-C motif chemokine ligand 19
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
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Ccl21
C-C motif chemokine ligand 21
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
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Ccl27
C-C motif chemokine ligand 27
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
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Ccno
cyclin O
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24747639 PMID:25741868 PMID:26139845 PMID:26777464 PMID:28492532 PMID:30067075 PMID:31650533 PMID:31879361 PMID:31980526 PMID:32367404 PMID:32622824 PMID:331765523 More...
NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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Cd72
Cd72 molecule
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725
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Cdca7l
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:24033266 PMID:24450482 PMID:25741868 PMID:26139845 PMID:28492532 PMID:29997923 PMID:31772028 PMID:31879361 PMID:32502479 PMID:32622824 PMID:33942430 PMID:34133440 PMID:34556108 More...
NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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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
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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
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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
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Chmp5
charged multivesicular body protein 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529
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Cimip2b
ciliary microtubule inner protein 2B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611
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Clta
clathrin, light chain A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472
G
Cntfr
ciliary neurotrophic factor receptor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392
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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
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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
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
G
Creb3
cAMP responsive element binding protein 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390
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
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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
G
Cyb561d2
cytochrome b561 family, member D2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759
G
Cybb
cytochrome b-245 beta chain
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586
G
Daw1
dynein assembly factor with WD repeats 1
ISS ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
MouseDO ClinVar
PMID:28991257 PMID:36074124
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
G
Dcaf12
DDB1 and CUL4 associated factor 12
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456
G
Dctn3
dynactin subunit 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
G
Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 PMID:24033266 PMID:24307375 PMID:24498942 PMID:25158045 PMID:25741868 PMID:26633542 PMID:27543293 PMID:27884173 PMID:28492532 PMID:28991257 PMID:29228333 PMID:30067075 PMID:34556108 More...
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
G
Dnaaf11
dynein axonemal assembly factor 11
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 PMID:24307375 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 More...
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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 PMID:25741868 PMID:28492532 PMID:32719396 More...
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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 PMID:22876777 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30067075 PMID:31213628 PMID:31772028 PMID:31879361 PMID:34401452 More...
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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 PMID:30067075 More...
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
G
Dnaaf5
dynein, axonemal, assembly factor 5
ISS ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
MouseDO ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 PMID:24033266 PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 PMID:29358401 PMID:29363216 PMID:37104040 More...
NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
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
G
Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868 PMID:27573432 PMID:27798045 PMID:28492532
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
G
Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:2690980 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18022865 PMID:20301301 PMID:20513915 PMID:21270641 PMID:21911699 PMID:22102620 PMID:22184204 PMID:22499950 PMID:22749724 PMID:23891469 PMID:23998934 PMID:24033266 PMID:24450482 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26729821 PMID:26909801 PMID:27637300 PMID:27854218 PMID:28492532 PMID:28976722 PMID:29363216 PMID:29467202 PMID:29997923 PMID:30067075 PMID:30359267 PMID:30919572 PMID:31040315 PMID:31507630 PMID:31607746 PMID:31633846 PMID:31650533 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32253119 PMID:32367404 PMID:32502479 PMID:32622824 PMID:32633470 PMID:32860008 PMID:33131162 PMID:33240318 PMID:33447612 PMID:33577779 PMID:33608380 PMID:33715250 PMID:33942430 PMID:34008892 PMID:34133440 PMID:34210339 PMID:34298581 PMID:34513534 PMID:34556108 PMID:35440622 PMID:35804324 PMID:36003331 PMID:36864285 PMID:37673932 More...
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:19763152 PMID:20301301 PMID:20307669 PMID:21270641 PMID:22406018 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23661805 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:24905662 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25525159 PMID:25640679 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27428751 PMID:27618201 PMID:27637300 PMID:27637763 PMID:27779714 PMID:27988889 PMID:28492532 PMID:28939216 PMID:28976722 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30148830 PMID:30290127 PMID:30293987 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31469207 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32111882 PMID:32253119 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:32847546 PMID:33574797 PMID:33577779 PMID:33589394 PMID:33635012 PMID:33715250 PMID:37860582 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
G
Dnah7
dynein, axonemal, heavy chain 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
G
Dnah8
dynein, axonemal, heavy chain 8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 PMID:22406018 PMID:24033266 PMID:24307375 PMID:25640679 PMID:25741868 PMID:28492532 PMID:31213628 PMID:32037394 PMID:32574564 PMID:32619401 PMID:32681648 More...
NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772
G
Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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 PMID:16858015 PMID:17576681 PMID:18434704 PMID:18492703 PMID:19300481 PMID:19675306 PMID:21143860 PMID:21270641 PMID:23477994 PMID:24033266 PMID:24498942 PMID:25741868 PMID:25802884 PMID:26918822 PMID:28152038 PMID:28492532 PMID:28939216 PMID:28952366 PMID:29095814 PMID:29363216 PMID:30067075 PMID:30300419 PMID:30868567 PMID:31130284 PMID:31213628 PMID:31589614 PMID:31650533 PMID:31772028 PMID:33032373 PMID:33131162 PMID:33447612 PMID:33715250 PMID:34445527 PMID:37860582 More...
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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:20301301 PMID:23261302 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25640679 PMID:25741868 PMID:25802884 PMID:28492532 PMID:31681265 PMID:32253119 PMID:33447612 PMID:35728977 PMID:36303540 More...
NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
G
Dnaja1
DnaJ heat shock protein family (Hsp40) member A1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967
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
G
Dnajb5
DnaJ heat shock protein family (Hsp40) member B5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490
G
Dnal1
dynein, axonemal, light chain 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
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
G
Dnmt3l
DNA methyltransferase 3 like
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516
G
Dpcd
deleted in primary ciliary dyskinesia
ISS
MouseDO
NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888
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 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31270959 PMID:31701675 PMID:31960620 More...
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
G
Dynlt3
dynein light chain Tctex-type 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139
G
Enho
energy homeostasis associated
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
G
Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
G
FAM187A
family with sequence similarity 187, member A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
G
Fam219a
family with sequence similarity 219, member A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924
G
Fam221b
family with sequence similarity 221, member B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367
G
Fancg
FA complementation group G
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029
G
Fbxo10
F-box protein 10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348
G
Foxj1
forkhead box J1
ISS
MouseDO
NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
G
Frmpd1
FERM and PDZ domain containing 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080
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
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
G
Galt
galactose-1-phosphate uridylyltransferase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
G
Gas2l2
growth arrest-specific 2 like 2
ISS ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
MouseDO ClinVar
PMID:25741868 PMID:30665704
NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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
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
G
Gba2
glucosylceramidase beta 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072
G
Gfap
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
G
Glipr2
GLI pathogenesis-related 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272
G
Gnai2
G protein subunit alpha i2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
G
Gnat1
G protein subunit alpha transducin 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
G
Gne
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499
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
G
Grhpr
glyoxylate and hydroxypyruvate reductase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
H2ap
H2A.P histone
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:12,907,962...12,908,516
G
Hint2
histidine triad nucleotide binding protein 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097
G
Hrct1
histidine rich carboxyl terminus 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790
G
Hsdl1
hydroxysteroid dehydrogenase like 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846
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
G
Hyal1
hyaluronidase 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210
G
Hyal2
hyaluronidase 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850
G
Hyal3
hyaluronidase 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
G
Hycc1
hyccin PI4KA lipid kinase complex subunit 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113
G
Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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
G
Ifrd2
interferon-related developmental regulator 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
G
Il11ra1
interleukin 11 receptor subunit alpha 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
G
Il6
interleukin 6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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
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Kif24
kinesin family member 24
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025
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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
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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
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Krtap10-1
keratin associated protein 10-1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,880,573...10,881,445
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Krtap10-10
keratin associated protein 10-10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,854,951...10,864,402
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Krtap10-2
keratin associated protein 10-2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,888,588...10,889,386
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Krtap10-8
keratin associated protein 10-8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844
G
Krtap10-9
keratin associated protein 10-9
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
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Krtap12-1
keratin associated protein 12-1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,917,340...10,917,949
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Krtap12-2
keratin associated protein 12-2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,904,422...10,904,751
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Krtap12-4
keratin associated protein 12-4
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:10,910,350...10,910,682
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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
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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
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Lsmem2
leucine-rich single-pass membrane protein 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
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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
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Mbtps1
membrane-bound transcription factor peptidase, site 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791
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Mcidas
multiciliate differentiation and DNA synthesis associated cell cycle protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:8813877 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25048963 PMID:25741868 PMID:28492532 More...
NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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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
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Melk
maternal embryonic leucine zipper kinase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937
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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
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Mlycd
malonyl-CoA decarboxylase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793
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Mon1a
MON1 homolog A, secretory trafficking associated
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
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Msmp
microseminoprotein, prostate associated
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985
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Mst1r
macrophage stimulating 1 receptor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455
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Myorg
myogenesis regulating glycosidase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
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Naa80
N(alpha)-acetyltransferase 80, NatH catalytic subunit
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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Ndufb6
NADH:ubiquinone oxidoreductase subunit B6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181
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 Ensembl chr13:9,612,431...9,623,074
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Necab2
N-terminal EF-hand calcium binding protein 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684
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Nfx1
nuclear transcription factor, X-box binding 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912
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Nme8
NME/NM23 family member 8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:16199547 PMID:17360648 PMID:20301301 PMID:22499950 PMID:24033266 PMID:25741868 PMID:28106320 PMID:28492532 More...
NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
G
Nol6
nucleolar protein 6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336
G
Npr2
natriuretic peptide receptor 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580
G
Nprl2
NPR2-like, GATOR1 complex subunit
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996
G
Nudt2
nudix hydrolase 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104
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 PMID:24033266 PMID:25640679 PMID:25741868 PMID:27637300 PMID:28492532 PMID:30067075 PMID:30291279 PMID:31213628 PMID:32111882 More...
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
G
Odad2
outer dynein arm docking complex subunit 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 PMID:24033266 PMID:24088041 PMID:25741868 PMID:27637300 PMID:28492532 PMID:33577779 More...
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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
G
Odad4
outer dynein arm docking complex subunit 4
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868
NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
G
Ofd1
Ofd1 centriole and centriolar satellite protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:11179005 PMID:12595504 PMID:16783569 PMID:18414213 PMID:18546297 PMID:25741868 PMID:26467025 PMID:26477546 PMID:27081566 PMID:28492532 PMID:31373179 PMID:35728977 More...
NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110
G
Or13c7
olfactory receptor family 13 subfamily C member 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852
G
Or13j1
olfactory receptor family 13 subfamily J member 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853
G
Osgin1
oxidative stress induced growth inhibitor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516
G
Otc
ornithine transcarbamylase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Pax5
paired box 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326
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
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
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
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
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
G
Phf24
PHD finger protein 24
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
G
Pigo
phosphatidylinositol glycan anchor biosynthesis, class O
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146
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
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
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
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Polr1e
RNA polymerase I subunit E
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369
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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
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
G
Prss3
serine protease 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562
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
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
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
G
Rapgef5
Rap guanine nucleotide exchange factor 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936
G
Rassf1
Ras association domain family member 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164
G
Rbm5
RNA binding motif protein 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
G
Rbm6
RNA binding motif protein 6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
G
Reck
reversion-inducing-cysteine-rich protein with kazal motifs
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502
G
Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147
G
Rgp1
RGP1 homolog, RAB6A GEF complex partner 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086
G
Rig1
RNA sensor RIG-1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819
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
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
G
Rnf38
ring finger protein 38
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446
G
Rpgr
retinitis pigmentosa GTPase regulator
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 PMID:9536098 PMID:9855162 PMID:9990021 PMID:10480356 PMID:10482958 PMID:10737996 PMID:10932196 PMID:10937588 PMID:10946359 PMID:11180598 PMID:11754050 PMID:11793468 PMID:11857109 PMID:11875055 PMID:11992260 PMID:12160730 PMID:12402343 PMID:12657579 PMID:12859409 PMID:14564670 PMID:15734019 PMID:16055928 PMID:16199547 PMID:16387007 PMID:16786505 PMID:16936086 PMID:16969763 PMID:17195164 PMID:17405150 PMID:17480003 PMID:17576681 PMID:17724181 PMID:17898302 PMID:18332319 PMID:18487280 PMID:18552978 PMID:19138872 PMID:19218993 PMID:19475717 PMID:19783189 PMID:19815619 PMID:20631154 PMID:20861475 PMID:21326217 PMID:21857984 PMID:21866333 PMID:22264887 PMID:22382802 PMID:22494545 PMID:22888088 PMID:23150612 PMID:23213406 PMID:23372056 PMID:23443027 PMID:23591405 PMID:23681342 PMID:23847139 PMID:23950152 PMID:24033266 PMID:25097241 PMID:25283059 PMID:25352739 PMID:25356976 PMID:25640679 PMID:25741868 PMID:26197217 PMID:26261414 PMID:26747767 PMID:26766544 PMID:27596865 PMID:27620828 PMID:27768226 PMID:28041643 PMID:28127548 PMID:28157192 PMID:28322733 PMID:28492532 PMID:28559085 PMID:28863407 PMID:28912962 PMID:29276052 PMID:29528978 PMID:29555955 PMID:29641573 PMID:29721948 PMID:29769798 PMID:29785639 PMID:30029497 PMID:30067075 PMID:30105367 PMID:30193314 PMID:30337596 PMID:30543658 PMID:30567410 PMID:30622176 PMID:30718709 PMID:30887160 PMID:30902645 PMID:30917587 PMID:30924848 PMID:31054281 PMID:31087526 PMID:31213501 PMID:31456290 PMID:31630094 PMID:31645972 PMID:31804667 PMID:31953110 PMID:31960602 PMID:32000842 PMID:32036094 PMID:32037395 PMID:32326409 PMID:32531858 PMID:32679846 PMID:32702353 PMID:32788070 PMID:32856788 PMID:33090715 PMID:33355362 PMID:33467000 PMID:33546218 PMID:33576794 PMID:34327195 PMID:34828430 PMID:34906470 PMID:34946927 PMID:34985506 PMID:35432464 PMID:35806195 PMID:35836572 PMID:35892439 PMID:36909829 More...
NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882
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Rpl36al1
ribosomal protein L36A like 1
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
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Rpp25l
ribonuclease P/MRP subunit p25 like
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
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Rps29
ribosomal protein S29
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636
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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
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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
G
Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 PMID:31772028 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 PMID:22448264 PMID:23798057 PMID:23993197 PMID:24033266 PMID:25741868 PMID:25789548 PMID:27637300 PMID:27848944 PMID:28492532 PMID:31130284 PMID:32253119 PMID:34513534 PMID:34768622 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
G
Rsph9
radial spoke head component 9
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 PMID:24307375 PMID:25741868 PMID:25789548 PMID:28492532 PMID:30067075 More...
NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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Rusc2
RUN and SH3 domain containing 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524
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Sema3b
semaphorin 3B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
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Sema3f
semaphorin 3F
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083
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Sigmar1
sigma non-opioid intracellular receptor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
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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
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Sit1
signaling threshold regulating transmembrane adaptor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838
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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
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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
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Slc38a3
solute carrier family 38, member 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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Slc38a8
solute carrier family 38, member 8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726
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Slit2
slit guidance ligand 2
ISS
MouseDO
NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948
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
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Smu1
SMU1, DNA replication regulator and spliceosomal factor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300
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Sp4
Sp4 transcription factor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126
G
Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:24033266 PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 More...
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
G
Spag8
sperm associated antigen 8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894
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Spata31f1
SPATA31 subfamily F member 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738
G
Spata31g1
SPATA31 subfamily G member 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070
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
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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
G
Spink4
serine peptidase inhibitor, Kazal type 4
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795
G
Spmip6
sperm microtubule inner protein 6
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923
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Srpx
sushi-repeat-containing protein, X-linked
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882
G
Stoml2
stomatin like 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920
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
G
Sytl5
synaptotagmin-like 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175
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
G
Tesk1
testis associated actin remodelling kinase 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698
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
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
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
G
Tln1
talin 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900
G
Tmem115
transmembrane protein 115
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298
G
Tmem215
transmembrane protein 215
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828
G
Tmem8b
transmembrane protein 8B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772
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
G
Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:22387996 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
G
Tnnt1
troponin T1, slow skeletal type
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 1:69,306,362...69,316,721
Ensembl chr 1:69,306,362...69,316,721
G
Tomm5
translocase of outer mitochondrial membrane 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269
G
Tomm7
translocase of outer mitochondrial membrane 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 PMID:23998934 PMID:28492532 More...
NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962
G
Topors
TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937
G
Tpm2
tropomyosin 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992
G
Traip
TRAF-interacting protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
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
G
Trio
trio Rho guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135
G
Trmt10b
tRNA methyltransferase 10B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526
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
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
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 PMID:23891469 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33005176 More...
NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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
G
Tusc2
tumor suppressor 2, mitochondrial calcium regulator
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056
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
G
Ubap1
ubiquitin-associated protein 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152
G
Ubap2
ubiquitin-associated protein 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049
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
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
G
Ube2r2
ubiquitin-conjugating enzyme E2R 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513
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
G
Unc13b
unc-13 homolog B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926
G
Vcp
valosin-containing protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
G
Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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
G
Xk
X-linked Kx blood group antigen, Kell and VPS13A binding protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 PMID:18487280 PMID:19138872 PMID:19475717 PMID:19783189 PMID:22382802 PMID:22494545 PMID:28492532 More...
NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830
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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
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Zbtb21
zinc finger and BTB domain containing 21
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996
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Zbtb5
zinc finger and BTB domain containing 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426
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Zcchc7
zinc finger CCHC-type containing 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:28492532
NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300
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Zmynd10
zinc finger, MYND-type containing 10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:26824761 PMID:28492532 PMID:31650533 PMID:31879361 PMID:33635866 More...
NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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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
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Dnai1
dynein, axonemal, intermediate chain 1
ISO ISS
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: DNAI1-related condition OMIM:244400
OMIM ClinVar MouseDO
PMID:9536098 PMID:11231901 PMID:16858015 PMID:17576681 PMID:19300481 PMID:21143860 PMID:24033266 PMID:25741868 PMID:25802884 PMID:28492532 PMID:30868567 PMID:31772028 PMID:33715250 PMID:37860582 More...
NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS
ClinVar
PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:28492532 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS
ClinVar
PMID:9536098 PMID:17576681 PMID:23798057 PMID:25741868 PMID:28492532 PMID:34513534 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Dnaaf2
dynein, axonemal, assembly factor 2
ISO ISS
ClinVar Annotator: match by term: DNAAF2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 10 OMIM:612518 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:19052621 PMID:24033266 PMID:24498942 PMID:25741868 PMID:28492532 PMID:32638265 More...
NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199
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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
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Rsph4a
radial spoke head component 4A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 11 | ClinVar Annotator: match by term: RSPH4A-related condition CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 PMID:22448264 PMID:23798057 PMID:23993197 PMID:24033266 PMID:25741868 PMID:25789548 PMID:27848944 PMID:28492532 PMID:31130284 PMID:32253119 PMID:34513534 PMID:34768622 More...
NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574
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Rsph9
radial spoke head component 9
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12
OMIM CTD ClinVar
PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062
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Dnaaf1
dynein, axonemal, assembly factor 1
ISO
ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 PMID:22499950 PMID:23599692 PMID:24033266 PMID:24498942 PMID:25158045 PMID:25741868 PMID:27543293 PMID:27884173 PMID:28492532 More...
NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313
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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
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Ccdc39
coiled-coil domain 39 molecular ruler complex subunit
ISO ISS
ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14 OMIM:613807
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 PMID:22693285 PMID:22693295 PMID:23255504 PMID:23891469 PMID:24033266 PMID:24498942 PMID:25118008 PMID:25186273 PMID:25741868 PMID:27637300 PMID:28492532 PMID:29748307 PMID:30067075 PMID:31213628 PMID:31469207 PMID:31650533 PMID:31772028 PMID:31980526 PMID:32253119 PMID:33942430 PMID:34674941 PMID:34768622 More...
NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350
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Ttc14
tetratricopeptide repeat domain 14
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 14
ClinVar
PMID:21131972 PMID:23255504 PMID:23891469 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131974 PMID:22499950 PMID:22693285 PMID:23255504 PMID:23261302 PMID:23891469 PMID:24033266 PMID:25619595 PMID:25741868 PMID:25877373 PMID:26228299 PMID:28492532 PMID:30067075 PMID:31213628 PMID:31443223 PMID:31507630 PMID:31589614 PMID:31650533 PMID:31772028 PMID:31879361 PMID:31980526 PMID:34768622 PMID:35626283 PMID:37260176 More...
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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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
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Aldh6a1
aldehyde dehydrogenase 6 family, member A1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
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Bbof1
basal body orientation factor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
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Coq6
coenzyme Q6 monooxygenase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657
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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
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Entpd5
ectonucleoside triphosphate diphosphohydrolase 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530
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Fam161b
FAM161 centrosomal protein B
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776
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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
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Mideas
mitotic deacetylase associated SANT domain protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:103,787,873...103,829,178
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Pnma1
PNMA family member 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567
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Ptgr2
prostaglandin reductase 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:103,931,367...103,963,113
Ensembl chr 6:103,931,409...103,963,111
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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
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Zfp410
zinc finger protein 410
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
ClinVar
PMID:21496787 PMID:28492532
NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:103,964,060...103,990,225
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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 PMID:25741868 PMID:26123568 PMID:27637300 PMID:28492532 PMID:28790179 PMID:30067075 PMID:37673932 More...
NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757
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FAM187A
family with sequence similarity 187, member A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471
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Gfap
glial fibrillary acidic protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17
ClinVar
PMID:25741868
NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589
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Cplx1
complexin 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 18
ClinVar
PMID:25741868
NCBI chr14:1,184,677...1,216,392
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Dnaaf5
dynein, axonemal, assembly factor 5
ISO
ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 PMID:24033266 PMID:24307375 PMID:25232951 PMID:25741868 PMID:28492532 PMID:29358401 PMID:29363216 PMID:37104040 More...
NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739
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Prkar1b
protein kinase cAMP-dependent type I regulatory subunit beta
ISO
ClinVar Annotator: match by term: DNAAF5-related condition | 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
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Dnaaf11
dynein axonemal assembly factor 11
ISO ISS
ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19 OMIM:614935
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 PMID:24307375 PMID:25640679 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30300419 PMID:31650533 More...
NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837
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Dnaaf3
dynein, axonemal, assembly factor 3
ISO ISS
ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2 OMIM:606763 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9536098 PMID:10745040 PMID:17576681 PMID:22387996 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:34401452 More...
NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344
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Tnni3
troponin I3, cardiac type
ISO
ClinVar Annotator: match by term: DNAAF3-related condition | 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
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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 PMID:25741868 PMID:27637300 PMID:28492532 PMID:30067075 PMID:32111882 More...
NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925
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Drc1
dynein regulatory complex subunit 1
ISO ISS
OMIM:615294 ClinVar Annotator: match by term: DRC1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 21
OMIM MouseDO ClinVar
PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31213628 PMID:31270959 PMID:31701675 PMID:31960620 More...
NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414
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Zmynd10
zinc finger, MYND-type containing 10
ISO ISS
OMIM:615444 ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition
OMIM MouseDO ClinVar
PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 PMID:31650533 PMID:33635866 More...
NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744
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Odad2
outer dynein arm docking complex subunit 2
ISO ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia 23 OMIM:615451
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 PMID:24033266 PMID:24088041 PMID:24203976 PMID:25640679 PMID:25741868 PMID:26139845 PMID:27637300 PMID:28492532 PMID:31213628 PMID:31650533 PMID:33577779 PMID:34670123 PMID:39033378 More...
NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399
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Rsph1
radial spoke head component 1
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 PMID:26139845 PMID:28492532 PMID:31772028 More...
NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640
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Dnaaf4
dynein axonemal assembly factor 4
susceptibility
ISO ISS
ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25 OMIM:615482
ClinVar OMIM MouseDO
PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 PMID:30290127 PMID:33760720 More...
NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292
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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
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Ccdc65
coiled-coil domain containing 65
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 27
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23991085 PMID:24033266 PMID:24094744 PMID:25741868 PMID:28492532 More...
NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803
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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
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Spag1
sperm associated antigen 1
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24055112 PMID:25640679 PMID:25741868 PMID:26139845 PMID:26228299 PMID:27637300 PMID:28492532 PMID:30067075 PMID:35178554 More...
NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368
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Vps13b
vacuolar protein sorting 13 homolog B
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429
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Ccno
cyclin O
ISO
ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29
OMIM ClinVar
PMID:24747639 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 PMID:31879361 PMID:31980526 PMID:32367404 PMID:32622824 PMID:331765523 More...
NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914
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Gcdh
glutaryl-CoA dehydrogenase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 29
ClinVar
PMID:8900227 PMID:9600243 PMID:10649503 PMID:10699052 PMID:10960496 PMID:11073722 PMID:18775954 PMID:20732827 PMID:24973495 PMID:25256449 PMID:25741868 PMID:25762492 PMID:28352331 PMID:28438223 PMID:28492532 PMID:28794906 PMID:30570710 PMID:31062211 PMID:31536184 More...
NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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Bach2
BTB domain and CNC homolog 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
PMID:28492532
NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877
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Ccdc40
coiled-coil domain 40 molecular ruler complex subunit
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243
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Dnah11
dynein, axonemal, heavy chain 11
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Dnah5
dynein, axonemal, heavy chain 5
ISO ISS
ClinVar Annotator: match by term: DNAH5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 3 OMIM:608644 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2127064 PMID:2389146 PMID:9536098 PMID:11062149 PMID:11788826 PMID:11912187 PMID:15750039 PMID:16199547 PMID:16492982 PMID:16627867 PMID:17534128 PMID:17576681 PMID:18492703 PMID:18950741 PMID:19357118 PMID:19630565 PMID:20301301 PMID:21270641 PMID:22416021 PMID:22499950 PMID:23261302 PMID:23477994 PMID:23891469 PMID:24033266 PMID:24150548 PMID:24448499 PMID:24498942 PMID:25066065 PMID:25118008 PMID:25186273 PMID:25326635 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26228299 PMID:26373788 PMID:26918822 PMID:26938784 PMID:27637300 PMID:27779714 PMID:28492532 PMID:29089047 PMID:29363216 PMID:29402277 PMID:29453417 PMID:30067075 PMID:30293990 PMID:30300419 PMID:31213628 PMID:31443223 PMID:31589614 PMID:31624253 PMID:31638833 PMID:31772028 PMID:31879361 PMID:32253119 PMID:32357925 PMID:32367404 PMID:32502479 PMID:32502767 PMID:33574797 PMID:33577779 PMID:33589394 PMID:33635012 PMID:37860582 More...
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Gas2l2
growth arrest-specific 2 like 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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Mcidas
multiciliate differentiation and DNA synthesis associated cell cycle protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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Mpeg1
macrophage expressed 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855
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Nfkb1
nuclear factor kappa B subunit 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
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Pten
phosphatase and tensin homolog
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 3
ClinVar
PMID:19442771 PMID:19732863 PMID:21931168 PMID:23456818 PMID:25741868 PMID:26373788 PMID:30067075 PMID:37272928 More...
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
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Odad3
outer dynein arm docking complex subunit 3
ISO ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia 30 OMIM:616037
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 PMID:25224326 PMID:25741868 PMID:28492532 PMID:31130284 PMID:31213628 PMID:32111882 More...
NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499
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Prkcsh
PRKCSH beta subunit of glucosidase II
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 30
ClinVar
PMID:25741868
NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492
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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
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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
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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
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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
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Rsph3
radial spoke head 3
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 32
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26073779 PMID:28492532 More...
NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232
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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
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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
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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
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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
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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
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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
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Acsf3
acyl-CoA synthetase family member 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553
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Ankrd11
ankyrin repeat domain containing 11
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962
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Aprt
adenine phosphoribosyl transferase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431
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Banp
Btg3 associated nuclear protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738
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Car5a
carbonic anhydrase 5A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906
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Cbfa2t3
CBFA2/RUNX1 partner transcriptional co-repressor 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610
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Cdh15
cadherin 15
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105
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Cdk10
cyclin-dependent kinase 10
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078
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Cdt1
chromatin licensing and DNA replication factor 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
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Chmp1a
charged multivesicular body protein 1A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436
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Cpne7
copine 7
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677
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Ctu2
cytosolic thiouridylase subunit 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623
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Cyba
cytochrome b-245 alpha chain
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721
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Dbndd1
dysbindin domain containing 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444
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Def8
differentially expressed in FDCP 8 homolog
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638
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Dpep1
dipeptidase 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257
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Fanca
FA complementation group A
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527
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Galns
galactosamine (N-acetyl)-6-sulfatase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
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Gas8
growth arrest specific 8
ISO ISS
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33 OMIM:616726
OMIM ClinVar MouseDO
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 PMID:25741868 PMID:26387594 PMID:27120127 PMID:27472056 PMID:28492532 More...
NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305
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Il17c
interleukin 17C
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169
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Jph3
junctophilin 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338
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Klhdc4
kelch domain containing 4
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868
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Mc1r
melanocortin 1 receptor
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192
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Mvd
mevalonate diphosphate decarboxylase
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971
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Pabpn1l
PABPN1 like
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Rnf166
ring finger protein 166
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274
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Rpl13
ribosomal protein L13
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014
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Slc7a5
solute carrier family 7 member 5
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823
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Snai3
snail family transcriptional repressor 3
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486
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Spata2L
spermatogenesis associated 2-like
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510
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Spata33
spermatogenesis associated 33
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894
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Spire2
spire-type actin nucleation factor 2
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920
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Tcf25
transcription factor 25
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723
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Trappc2l
trafficking protein particle complex subunit 2L
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192
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Tubb3
tubulin, beta 3 class III
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243
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Vps9d1
VPS9 domain containing 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634
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Zc3h18
zinc finger CCCH-type containing 18
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854
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Zfp26
zinc finger protein 26
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325
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Zfp276
zinc finger protein (C2H2 type) 276
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049
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Zfp469
zinc finger protein 469
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,282,337...50,324,010
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Zfpm1
zinc finger protein, multitype 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
ClinVar
PMID:28492532
NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591
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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
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Odad4
outer dynein arm docking complex subunit 4
ISO ISS
OMIM:617092 ClinVar Annotator: match by term: Primary ciliary dyskinesia 35
OMIM MouseDO ClinVar
PMID:25741868 PMID:27486780
NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603
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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
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Dnah1
dynein, axonemal, heavy chain 1
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 37 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 PMID:25741868 PMID:25927852 PMID:27573432 PMID:27798045 PMID:28492532 PMID:32719396 PMID:33577779 More...
NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
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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
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition
OMIM ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:30388400
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 | ClinVar Annotator: match by term: DNAH9-related condition
OMIM ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30471717 PMID:30471718 PMID:32037394 PMID:33027564 More...
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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Gas2l2
growth arrest-specific 2 like 2
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition
OMIM ClinVar
PMID:25741868 PMID:30665704
NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881
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Mcidas
multiciliate differentiation and DNA synthesis associated cell cycle protein
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42
OMIM ClinVar
PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 PMID:28492532 PMID:30237576 More...
NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601
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Foxj1
forkhead box J1
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43
OMIM ClinVar
PMID:25741868 PMID:31630787 PMID:33077954 PMID:34132502
NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237
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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
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Dnah6
dynein, axonemal, heavy chain 6
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45
ClinVar
PMID:25741868
NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
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Ttc12
tetratricopeptide repeat domain 12
ISO
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS | 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
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Stk36
serine/threonine kinase 36
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition
OMIM ClinVar
PMID:24033266 PMID:25741868 PMID:28492532 PMID:28543983
NCBI chr 9:76,176,922...76,204,423
Ensembl chr 9:76,176,920...76,204,422
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Nme5
NME/NM23 family member 5
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus
OMIM ClinVar
PMID:25741868 PMID:32185794 PMID:32950024
NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794
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Cfap74
cilia and flagella associated protein 74
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus
OMIM ClinVar
PMID:25741868 PMID:32555313 PMID:36047773
NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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Hydin
Hydin, axonemal central pair apparatus protein
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 5 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:14985390 PMID:23022101 PMID:23849777 PMID:24033266 PMID:25741868 PMID:28512736 PMID:29363216 PMID:31469207 PMID:31879361 More...
NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264
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Dnah7
dynein, axonemal, heavy chain 7
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50
OMIM ClinVar
PMID:25741868 PMID:34476482 PMID:35543642
NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297
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Brwd1
bromodomain and WD repeat domain containing 1
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51
OMIM ClinVar
PMID:25741868 PMID:33389130
NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768
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Daw1
dynein assembly factor with WD repeats 1
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52
OMIM ClinVar
PMID:25741868 PMID:28991257 PMID:36074124
NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635
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Clxn
calaxin
ISO
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53
OMIM ClinVar
PMID:25741868 PMID:36727596
NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538
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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
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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
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Elmo1
engulfment and cell motility 1
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6
ClinVar
PMID:28492532
NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788
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Gpr141
G protein-coupled receptor 141
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6
ClinVar
PMID:28492532
NCBI chr17:45,117,818...45,180,053
Ensembl chr17:45,117,812...45,180,027
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Matcap2
microtubule associated tyrosine carboxypeptidase 2
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
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Nme8
NME/NM23 family member 8
ISO
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 PMID:22499950 PMID:24033266 PMID:25741868 PMID:28106320 PMID:28492532 More...
NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948
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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
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Cdca7l
cell division cycle associated 7 like
ISO
ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7
ClinVar
PMID:18022865 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 PMID:28492532 PMID:29997923 PMID:32502479 PMID:32622824 PMID:33942430 PMID:34133440 PMID:34556108 More...
NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888
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Dnah11
dynein, axonemal, heavy chain 11
ISO ISS
ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7 OMIM:611884 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:2690980 PMID:9536098 PMID:9585585 PMID:12142464 PMID:16199547 PMID:17576681 PMID:18022865 PMID:20301301 PMID:20513915 PMID:22102620 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 PMID:25802884 PMID:26139845 PMID:26729821 PMID:26909801 PMID:27637300 PMID:27854218 PMID:28492532 PMID:28976722 PMID:29467202 PMID:29997923 PMID:30067075 PMID:30919572 PMID:31040315 PMID:31507630 PMID:31607746 PMID:31765523 PMID:31772028 PMID:31879361 PMID:32253119 PMID:32367404 PMID:32502479 PMID:32622824 PMID:32633470 PMID:32860008 PMID:33447612 PMID:33608380 PMID:33942430 PMID:34008892 PMID:34133440 PMID:34298581 PMID:34513534 PMID:34556108 PMID:35804324 PMID:36003331 PMID:37673932 More...
NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536
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Dnah5
dynein, axonemal, heavy chain 5
ISO
ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis
ClinVar
PMID:11788826 PMID:16627867 PMID:25741868 PMID:28492532
NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890
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Dnai2
dynein, axonemal, intermediate chain 2
ISO
ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9 | ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 PMID:23261302 PMID:23891469 PMID:24033266 PMID:25741868 PMID:25802884 PMID:28492532 PMID:33447612 PMID:35728977 More...
NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378
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Cenpf
centromere protein F
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Stromme syndrome
OMIM CTD ClinVar
PMID:8261651 PMID:25564561 PMID:25741868 PMID:25741878 PMID:26820108 PMID:28407396 PMID:28492532 More...
NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
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