primary ciliary dyskinesia - Ontology Report - Rat Genome Database

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RGD DISEASE ONTOLOGY - ANNOTATIONS

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

Term:	primary ciliary dyskinesia	go back to main search page
Accession:	DOID:9562	browse the term
Definition:	A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)
Synonyms:	exact_synonym:	immotile ciliary syndrome
	xref:	GARD:4484; NCI:C84638; OMIM:PS244400; ORDO:244

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Genes (355)

primary ciliary dyskinesia

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

ATP binding cassette subfamily G member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,126,687...9,182,948
Ensembl chr20:9,126,687...9,182,948

G

adenosine deaminase, RNA-specific, B1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,222,569...11,350,854
Ensembl chr20:11,222,583...11,350,852

G

1-acylglycerol-3-phosphate O-acyltransferase 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,330,960...10,415,358
Ensembl chr20:10,384,507...10,415,358

G

autoimmune regulator

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,636,058...10,651,060
Ensembl chr20:10,636,123...10,651,060

G

adenylate kinase 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18776131 PMID:20537283 PMID:22801010

NCBI chr 6:124,611,789...124,679,978
Ensembl chr 6:124,611,902...124,679,961

G

adaptor related protein complex 1 subunit beta 1

NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778

G

aprataxin

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,798,896...55,822,963
Ensembl chr 5:55,800,248...55,822,855

G

aquaporin 3 (Gill blood group)

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,239,200...56,244,718
Ensembl chr 5:56,239,201...56,244,720

G

aquaporin 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,171,649...56,186,642
Ensembl chr 5:56,172,519...56,186,642

G

Rho guanine nucleotide exchange factor 39

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,752,509...57,756,079
Ensembl chr 5:57,752,509...57,756,109

G

AT-rich interaction domain 3C

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,889,649...56,896,959
Ensembl chr 5:56,890,042...56,895,888

G

atos homolog B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,260,839...57,274,524
Ensembl chr 5:57,260,841...57,268,892

G

beta-1,4-galactosyltransferase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,935,614...55,982,461
Ensembl chr 5:55,935,615...55,982,461

G

BAG cochaperone 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075

G

similar to human chromosome 21 open reading frame 58

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,167,279...12,188,665
Ensembl chr20:12,175,442...12,187,017

G

C2 calcium-dependent domain containing 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr11:37,225,321...37,289,741
Ensembl chr11:37,227,415...37,289,739

G

similar to human chromosome 1 open reading frame 127

NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369

G

calcium voltage-gated channel auxiliary subunit alpha2delta 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,072,208...108,203,516
Ensembl chr 8:108,072,454...108,203,173

G

CaM kinase-like vesicle-associated

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169

G

carbonic anhydrase 9

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,763,234...57,769,838
Ensembl chr 5:57,763,206...57,769,838

G

cystathionine beta synthase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,708,089...9,732,623
Ensembl chr20:9,708,090...9,732,764

G

chibby 1, beta catenin antagonist

NCBI chr 7:111,216,835...111,223,305

G

coiled-coil domain containing 103

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:22581229 PMID:23891469 More...

NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757

G

coiled-coil domain containing 107

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,749,502...57,752,920
Ensembl chr 5:57,748,999...57,752,918

G

coiled-coil domain 39 molecular ruler complex subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:21131974 More...

NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243

G

coiled-coil domain containing 65

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803

G

calicin

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,206,676...58,208,563
Ensembl chr 5:58,206,633...58,208,951

G

C-C motif chemokine ligand 19

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308

G

C-C motif chemokine ligand 21

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686

G

C-C motif chemokine ligand 27

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506

G

cyclin O

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24747639 More...

NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914

G

Cd72 molecule

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,697,361...57,704,980
Ensembl chr 5:57,697,367...57,704,725

G

cell division cycle associated 7 like

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888

G

cilia and flagella associated protein 221

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr13:31,046,550...31,118,141
Ensembl chr13:31,046,535...31,116,899

G

cilia and flagella associated protein 410

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,687,863...10,694,736
Ensembl chr20:10,687,863...10,694,737

G

cilia and flagella associated protein 57

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:132,074,404...132,148,102
Ensembl chr 5:132,074,395...132,148,462

G

charged multivesicular body protein 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,081,385...56,098,529
Ensembl chr 5:56,081,343...56,098,529

G

ciliary microtubule inner protein 2B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,675,537...57,680,133
Ensembl chr 5:57,675,462...57,678,611

G

clathrin, light chain A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,244,253...58,263,480
Ensembl chr 5:58,245,442...58,263,472

G

ciliary neurotrophic factor receptor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,823,448...56,861,049
Ensembl chr 5:56,823,965...56,841,392

G

collagen type XVIII alpha 1 chain

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,474,104...11,582,593
Ensembl chr20:11,474,104...11,582,593

G

collagen type VI alpha 1 chain

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597

G

collagen type VI alpha 2 chain

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564

G

cAMP responsive element binding protein 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,817,865...57,823,233
Ensembl chr 5:57,817,832...57,824,390

G

crystallin, alpha A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,783,605...9,787,351
Ensembl chr20:9,783,605...9,787,349

G

cystatin B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,245,462...10,247,505
Ensembl chr20:10,245,462...10,247,526

G

cytochrome b561 family, member D2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,213,201...108,215,778
Ensembl chr 8:108,213,205...108,215,759

G

cytochrome b-245 beta chain

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:13,358,101...13,392,570
Ensembl chr X:13,359,430...13,392,586

G

dynein assembly factor with WD repeats 1

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

DDB1 and CUL4 associated factor 12

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,460,418...56,482,171
Ensembl chr 5:56,461,006...56,482,456

G

dynactin subunit 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102

G

dynein, axonemal, assembly factor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19944400 PMID:19944405 More...

NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:20301301 PMID:23122589 PMID:23527195 PMID:23891469 PMID:24033266 More...

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

G

dynein, axonemal, assembly factor 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:17576681 PMID:19052621 PMID:24033266 PMID:24498942 More...

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

dynein, axonemal, assembly factor 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:10745040 PMID:16199547 PMID:17576681 PMID:22387996 More...

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

dynein axonemal assembly factor 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:23872636 PMID:24033266 PMID:24824133 PMID:25741868 PMID:26139845 More...

NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292

G

dynein, axonemal, assembly factor 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

MouseDO
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More...

NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739

G

dynein axonemal assembly factor 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:103,724,419...103,775,633
Ensembl chr X:103,731,857...103,775,629

G

dynein, axonemal, heavy chain 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

dynein, axonemal, heavy chain 11

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:2690980 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18022865 More...

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

G

dynein, axonemal, heavy chain 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

MouseDO
ClinVar

PMID:2127064 PMID:2389146 PMID:2506606 PMID:9536098 PMID:11062149 More...

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

dynein, axonemal, heavy chain 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297

G

dynein, axonemal, heavy chain 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19763152 PMID:20307669 More...

NCBI chr20:8,692,939...8,946,780
Ensembl chr20:8,692,963...8,946,772

G

dynein, axonemal, heavy chain 9

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532 PMID:30471718

NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949

G

dynein, axonemal, intermediate chain 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:10577904 PMID:11231901 PMID:11713099 PMID:16199547 More...

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

dynein, axonemal, intermediate chain 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

MouseDO
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More...

NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378

G

DnaJ heat shock protein family (Hsp40) member A1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,842,414...55,853,326
Ensembl chr 5:55,842,426...55,853,967

G

DnaJ heat shock protein family (Hsp40) member B13

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 1:154,848,586...154,863,042
Ensembl chr 1:154,848,594...154,862,963

G

DnaJ heat shock protein family (Hsp40) member B5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,176,840...57,186,067
Ensembl chr 5:57,176,845...57,185,490

G

dynein, axonemal, light chain 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

DNA methyltransferase 3 like

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,614,933...10,629,337
Ensembl chr20:10,614,934...10,629,516

G

deleted in primary ciliary dyskinesia

NCBI chr 1:244,408,766...244,426,891
Ensembl chr 1:244,408,785...244,426,888

G

dynein regulatory complex subunit 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:12746204 PMID:16199547 PMID:17576681 PMID:23354437 More...

NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414

G

dynein light chain Tctex-type 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:13,327,933...13,337,139
Ensembl chr X:13,327,892...13,337,139

G

energy homeostasis associated

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777

G

exosome component 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060

G

family with sequence similarity 187, member A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471

G

family with sequence similarity 219, member A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,679,272...56,729,959
Ensembl chr 5:56,680,613...56,729,924

G

family with sequence similarity 221, member B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,910,346...57,919,562
Ensembl chr 5:57,910,352...57,919,367

G

FA complementation group G

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,230,287...57,240,067
Ensembl chr 5:57,231,685...57,240,029

G

F-box protein 10

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,297,016...59,343,429
Ensembl chr 5:59,297,045...59,343,348

G

forkhead box J1

NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237

G

FERM and PDZ domain containing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,443,076...59,545,125
Ensembl chr 5:59,443,076...59,545,080

G

formimidoyltransferase cyclodeaminase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735

G

alpha glucosidase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

galactose-1-phosphate uridylyltransferase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265

G

growth arrest-specific 2 like 2

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

growth arrest specific 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305

G

glutamine amidotransferase class 1 domain containing 3A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,514,793...10,522,894
Ensembl chr20:10,514,744...10,522,885

G

glucosylceramidase beta 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,822,389...57,834,522
Ensembl chr 5:57,822,389...57,834,072

G

glial fibrillary acidic protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

G

GLI pathogenesis-related 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,170,417...58,202,258
Ensembl chr 5:58,170,425...58,202,272

G

G protein subunit alpha i2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979

G

G protein subunit alpha transducin 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671

G

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,267,189...58,307,396
Ensembl chr 5:58,267,210...58,307,499

G

G protein-coupled receptor, class C, group 6, member A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412

G

glyoxylate and hydroxypyruvate reductase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603

G

H2A.P histone

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:12,907,962...12,908,516

G

histidine triad nucleotide binding protein 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,904,613...57,906,868
Ensembl chr 5:57,904,614...57,907,097

G

histidine rich carboxyl terminus 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,982,344...57,983,186
Ensembl chr 5:57,982,470...57,982,790

G

hydroxysteroid dehydrogenase like 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,615,794...47,631,892
Ensembl chr19:47,615,796...47,631,846

G

heat shock transcription factor 2 binding protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,035,562...10,123,059
Ensembl chr20:10,035,562...10,121,242

G

hyaluronidase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,250,668...108,254,519
Ensembl chr 8:108,250,667...108,260,210

G

hyaluronidase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,241,895...108,246,853
Ensembl chr 8:108,243,133...108,246,850

G

hyaluronidase 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647

G

hyccin PI4KA lipid kinase complex subunit 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 4:11,132,224...11,239,120
Ensembl chr 4:11,132,385...11,239,113

G

Hydin, axonemal central pair apparatus protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264

G

inducible T-cell co-stimulator ligand

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,600,420...10,610,718
Ensembl chr20:10,600,420...10,610,703

G

interferon-related developmental regulator 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194

G

interleukin 11 receptor subunit alpha 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408

G

interleukin 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178

G

integrin subunit beta 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600

G

kinesin family member 24

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,561,019...56,628,040
Ensembl chr 5:56,561,154...56,628,025

G

kelch-like family member 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541

G

karyopherin subunit alpha 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078

G

keratin associated protein 10-1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,880,524...10,881,445
Ensembl chr20:10,855,181...10,864,362

G

keratin associated protein 10-10

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,854,951...10,864,402

G

keratin associated protein 10-2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,888,588...10,889,386

G

keratin associated protein 10-8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,871,991...10,872,927
Ensembl chr20:10,871,991...10,872,844

G

keratin associated protein 10-9

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,939,609...10,940,526
Ensembl chr20:10,939,609...10,940,526

G

keratin associated protein 12-1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,917,340...10,917,949

G

keratin associated protein 12-2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,904,422...10,904,751

G

keratin associated protein 12-4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,910,350...10,910,682

G

leucine rich repeat protein 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 6:87,643,195...87,651,894
Ensembl chr 6:87,643,217...87,651,894

G

leucine rich repeat containing 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,758,919...10,763,736
Ensembl chr20:10,758,955...10,762,067

G

leucine-rich single-pass membrane protein 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115

G

lanosterol synthase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762

G

membrane-bound transcription factor peptidase, site 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,561,598...47,612,769
Ensembl chr19:47,561,598...47,612,791

G

multiciliate differentiation and DNA synthesis associated cell cycle protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:8813877 PMID:9536098 PMID:17576681 PMID:24033266 PMID:25048963 More...

NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601

G

minichromosome maintenance complex component 3 associated protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,127,570...12,165,165
Ensembl chr20:12,127,570...12,165,165

G

maternal embryonic leucine zipper kinase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,540,393...58,600,562
Ensembl chr 5:58,540,449...58,600,937

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177

G

malonyl-CoA decarboxylase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,447,931...47,463,794
Ensembl chr19:47,447,970...47,463,793

G

MON1 homolog A, secretory trafficking associated

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156

G

microseminoprotein, prostate associated

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,838,935...57,839,985
Ensembl chr 5:57,838,935...57,839,985

G

macrophage stimulating 1 receptor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,596,100...108,611,441
Ensembl chr 8:108,597,299...108,612,455

G

myogenesis regulating glycosidase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440

G

N(alpha)-acetyltransferase 80, NatH catalytic subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563

G

NADH:ubiquinone oxidoreductase subunit B6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,400,543...55,410,110
Ensembl chr 5:55,400,543...55,410,181

G

NADH:ubiquinone oxidoreductase subunit V3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,612,462...9,621,622
Ensembl chr20:9,612,431...9,623,074
Ensembl chr13:9,612,431...9,623,074

G

N-terminal EF-hand calcium binding protein 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,501,351...47,527,722
Ensembl chr19:47,501,302...47,527,684

G

nuclear transcription factor, X-box binding 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,104,945...56,162,912
Ensembl chr 5:56,105,234...56,162,912

G

NME/NM23 family member 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:16199547 PMID:17360648 PMID:20301301 PMID:22499950 PMID:24033266 More...

NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948

G

nucleolar protein 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,259,919...56,270,540
Ensembl chr 5:56,260,830...56,270,336

G

natriuretic peptide receptor 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,883,171...57,901,590
Ensembl chr 5:57,883,171...57,901,580

G

NPR2-like, GATOR1 complex subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,215,823...108,218,996
Ensembl chr 8:108,215,814...108,218,996

G

nudix hydrolase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,628,265...56,643,104
Ensembl chr 5:56,628,265...56,643,104

G

outer dynein arm docking complex subunit 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More...

NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925

G

outer dynein arm docking complex subunit 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More...

NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399

G

outer dynein arm docking complex subunit 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499

G

outer dynein arm docking complex subunit 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603

G

Ofd1 centriole and centriolar satellite protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:11179005 PMID:12595504 PMID:16783569 PMID:18414213 PMID:18546297 More...

NCBI chr X:28,015,347...28,056,115
Ensembl chr X:28,015,347...28,056,110

G

olfactory receptor family 13 subfamily C member 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,081,150...58,082,109
Ensembl chr 5:58,077,726...58,083,852

G

olfactory receptor family 13 subfamily J member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,961,391...57,962,329
Ensembl chr 5:57,960,219...57,965,853

G

oxidative stress induced growth inhibitor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,471,750...47,500,517
Ensembl chr19:47,492,171...47,500,516

G

ornithine transcarbamylase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:10946359 PMID:11793468 PMID:16055928 PMID:16786505 PMID:16969763 More...

NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918

G

paired box 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,763,334...58,945,719
Ensembl chr 5:58,765,036...58,944,326

G

poly(rC) binding protein 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,678,218...11,878,210
Ensembl chr20:11,678,269...11,878,210

G

pericentrin

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710

G

proprotein convertase subtilisin/kexin type 5

NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600

G

phosphodiesterase 9A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,469,809...9,562,949
Ensembl chr20:9,469,848...9,562,948

G

phosphofructokinase, liver type

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,664,285...10,686,324
Ensembl chr20:10,664,272...10,686,315

G

PHD finger protein 24

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497

G

phosphatidylinositol glycan anchor biosynthesis, class O

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,244,721...57,256,252
Ensembl chr 5:57,245,166...57,254,146

G

PBX/knotted 1 homeobox 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,662,866...9,705,030
Ensembl chr20:9,662,899...9,703,727

G

protein O-fucosyltransferase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,367,073...11,377,788
Ensembl chr20:11,367,096...11,377,743

G

DNA polymerase epsilon 2, accessory subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 6:87,674,702...87,712,723
Ensembl chr 6:87,674,702...87,699,305

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More...

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

G

RNA polymerase I subunit E

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,279,456...59,295,346
Ensembl chr 5:59,279,460...59,295,369

G

PR/SET domain 15

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr11:37,164,608...37,225,172
Ensembl chr11:37,165,575...37,222,207

G

protein kinase cAMP-dependent type I regulatory subunit beta

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

serine protease 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 4:70,203,088...70,206,562
Ensembl chr 4:70,203,088...70,206,562

G

PTTG1 interacting protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,030,013...11,047,742
Ensembl chr20:11,030,015...11,047,316

G

PWP2, small subunit processome component

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,499,332...10,512,965
Ensembl chr20:10,499,363...10,513,640

G

recombination activating 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291

G

Rap guanine nucleotide exchange factor 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 6:138,445,184...138,679,943
Ensembl chr 6:138,437,991...138,679,936

G

Ras association domain family member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,225,023...108,236,164
Ensembl chr 8:108,225,023...108,236,164

G

RNA binding motif protein 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430

G

RNA binding motif protein 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771

G

reversion-inducing-cysteine-rich protein with kazal motifs

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,102,961...58,169,516
Ensembl chr 5:58,102,981...58,169,502

G

regulatory factor X, 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147

G

RGP1 homolog, RAB6A GEF complex partner 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,834,467...57,843,087
Ensembl chr 5:57,834,629...57,843,086

G

RNA sensor RIG-1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,321,351...55,369,947
Ensembl chr 5:55,321,235...55,370,819

G

receptor-interacting serine-threonine kinase 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799

G

RNA component of signal recognition particle 7SL1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 6:87,636,808...87,637,106
Ensembl chr 6:87,636,804...87,637,103

G

ring finger protein 38

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,358,771...58,467,424
Ensembl chr 5:58,361,976...58,467,446

G

retinitis pigmentosa GTPase regulator

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:8673101 PMID:8817343 PMID:9326322 PMID:9331262 PMID:9399904 More...

NCBI chr X:12,566,447...12,628,171
Ensembl chr X:12,566,645...12,747,882

G

ribosomal protein L36A like 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

G

ribonuclease P/MRP subunit p25 like

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013

G

ribosomal protein S29

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 6:87,635,229...87,636,627
Ensembl chr 6:87,635,230...87,636,636

G

ribosomal RNA processing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,260,892...10,272,141
Ensembl chr20:10,260,870...10,272,144

G

ribosomal RNA processing 1B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,123,111...10,148,704
Ensembl chr20:10,123,125...10,147,928

G

radial spoke head component 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23993197 PMID:24033266 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

G

radial spoke head 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232

G

radial spoke head component 4A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:19200523 PMID:20301301 More...

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

G

radial spoke head component 9

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:16199547 PMID:19200523 PMID:22384920 PMID:23993197 PMID:24033266 More...

NCBI chr 9:14,840,115...14,852,950
Ensembl chr 9:14,840,115...14,860,062

G

RUN and SH3 domain containing 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,628,397...57,675,524
Ensembl chr 5:57,629,904...57,675,524

G

semaphorin 3B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919

G

semaphorin 3F

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,357,629...108,386,569
Ensembl chr 8:108,357,629...108,387,083

G

sigma non-opioid intracellular receptor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017

G

salt-inducible kinase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,949,407...9,959,036
Ensembl chr20:9,947,396...9,958,991

G

signaling threshold regulating transmembrane adaptor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,740,212...57,741,838
Ensembl chr 5:57,740,218...57,741,838

G

solute carrier family 19 member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972

G

solute carrier family 37 member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,360,501...9,433,895
Ensembl chr20:9,378,836...9,433,892

G

solute carrier family 38, member 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988

G

solute carrier family 38, member 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr19:47,522,781...47,561,443
Ensembl chr19:47,525,301...47,554,726

G

slit guidance ligand 2

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

SLX9 ribosome biogenesis factor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:11,114,632...11,147,532
Ensembl chr20:11,114,589...11,147,521

G

SMU1, DNA replication regulator and spliceosomal factor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,856,691...55,875,262
Ensembl chr 5:55,856,246...55,875,300

G

Sp4 transcription factor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 6:139,187,458...139,252,741
Ensembl chr 6:139,192,147...139,252,126

G

sperm associated antigen 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:24033266 PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 More...

NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368

G

sperm associated antigen 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,901,681...57,903,894
Ensembl chr 5:57,901,682...57,903,894

G

SPATA31 subfamily F member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,065,743...57,071,880
Ensembl chr 5:57,065,747...57,071,738

G

SPATA31 subfamily G member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,199,980...57,204,069
Ensembl chr 5:57,200,000...57,204,070

G

spermatogenesis and centriole associated 1-like

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,074,040...12,083,873
Ensembl chr20:12,074,047...12,083,301

G

sperm flagellar 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

MouseDO
ClinVar

NCBI chr 2:58,512,489...58,694,718
Ensembl chr 2:58,512,489...58,694,664

G

serine peptidase inhibitor, Kazal type 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,043,936...56,064,841
Ensembl chr 5:55,981,624...56,064,795

G

sperm microtubule inner protein 6

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,666,160...56,678,865
Ensembl chr 5:56,666,058...56,678,923

G

sushi-repeat-containing protein, X-linked

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:12,676,984...12,751,296
Ensembl chr X:12,566,645...12,747,882

G

stomatin like 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,256,227...57,259,824
Ensembl chr 5:57,256,220...57,259,920

G

small ubiquitin-like modifier 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

synaptotagmin-like 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:12,775,529...13,030,134
Ensembl chr X:12,788,698...13,030,175

G

TATA-box binding protein associated factor, RNA polymerase 1 subunit C

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

testis associated actin remodelling kinase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,691,922...57,697,698
Ensembl chr 5:57,691,969...57,697,698

G

trefoil factor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,235,736...9,239,597
Ensembl chr20:9,235,736...9,239,597

G

trefoil factor 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,215,750...9,219,619
Ensembl chr20:9,215,761...9,219,619

G

trefoil factor 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054

G

talin 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,787,670...57,817,900
Ensembl chr 5:57,787,943...57,817,900

G

transmembrane protein 115

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,207,463...108,212,327
Ensembl chr 8:108,207,654...108,212,298

G

transmembrane protein 215

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,612,568...55,615,828
Ensembl chr 5:55,612,568...55,615,828

G

transmembrane protein 8B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,919,473...57,948,419
Ensembl chr 5:57,919,804...57,946,772

G

transmembrane serine protease 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,254,102...9,273,808
Ensembl chr20:9,254,109...9,274,363

G

troponin I3, cardiac type

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

troponin T1, slow skeletal type

ClinVar Annotator: match by term: Primary ciliary dyskinesia

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

translocase of outer mitochondrial membrane 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,362,360...59,365,191
Ensembl chr 5:59,362,240...59,365,269

G

translocase of outer mitochondrial membrane 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:18022865 PMID:20513915 PMID:21911699 PMID:22184204 PMID:22749724 More...

NCBI chr 4:11,305,122...11,311,963
Ensembl chr 4:11,305,110...11,311,962

G

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:55,388,033...55,399,937
Ensembl chr 5:55,387,632...55,399,937

G

tropomyosin 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,770,919...57,780,278
Ensembl chr 5:57,770,864...57,779,992

G

TRAF-interacting protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638

G

trafficking protein particle complex subunit 10

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074

G

trio Rho guanine nucleotide exchange factor

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 2:78,505,069...78,801,384
Ensembl chr 2:78,505,070...78,803,135

G

tRNA methyltransferase 10B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,548,845...59,572,529
Ensembl chr 5:59,548,869...59,572,526

G

transient receptor potential cation channel, subfamily M, member 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,703,568...10,753,189
Ensembl chr20:10,707,014...10,753,181

G

thrombospondin-type laminin G domain and EAR repeats

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,771,806...10,837,419
Ensembl chr20:10,772,219...10,943,914

G

tetratricopeptide repeat domain 14

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:23255504 More...

NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158

G

TTL family tubulin polyglutamylase complex subunit L1

NCBI chr 7:114,619,509...114,648,850
Ensembl chr 7:114,619,508...114,648,761

G

tumor suppressor 2, mitochondrial calcium regulator

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 8:108,236,838...108,240,056
Ensembl chr 8:108,236,838...108,240,056

G

U2 small nuclear RNA auxiliary factor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,742,904...9,753,840
Ensembl chr20:9,742,905...9,753,832

G

ubiquitin-associated protein 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,520,722...56,561,153
Ensembl chr 5:56,520,743...56,561,152

G

ubiquitin-associated protein 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,348,243...56,437,403
Ensembl chr 5:56,348,246...56,437,049

G

ubiquitin associated and SH3 domain containing, A

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,291,471...9,334,685
Ensembl chr20:9,292,139...9,329,224

G

ubiquitin-conjugating enzyme E2G 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:10,983,734...11,005,468
Ensembl chr20:10,983,742...11,005,447

G

ubiquitin-conjugating enzyme E2R 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:56,286,604...56,345,160
Ensembl chr 5:56,286,725...56,345,513

G

uromodulin-like 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,027,751...9,087,133
Ensembl chr20:9,025,724...9,087,146

G

unc-13 homolog B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,288,999...57,504,110
Ensembl chr 5:57,289,227...57,502,926

G

valosin-containing protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:25741868 PMID:28492532

NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429

G

WD repeat domain 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:9,587,205...9,611,434
Ensembl chr20:9,587,207...9,603,581

G

X-linked Kx blood group antigen, Kell and VPS13A binding protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr X:13,436,412...13,472,830
Ensembl chr X:13,436,418...13,472,830

G

ybeY metalloendoribonuclease

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:12,165,192...12,174,713
Ensembl chr20:12,165,237...12,174,713

G

zinc finger and BTB domain containing 21

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr11:37,312,337...37,327,040
Ensembl chr11:37,312,378...37,326,996

G

zinc finger and BTB domain containing 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:59,244,132...59,265,461
Ensembl chr 5:59,243,307...59,265,426

G

zinc finger CCHC-type containing 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr 5:58,992,558...59,173,308
Ensembl chr 5:58,993,290...59,173,300

G

zinc finger, MYND-type containing 10

ClinVar Annotator: match by term: Primary ciliary dyskinesia

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23891469 PMID:23891471 More...

NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744

G

zinc finger containing ubiquitin peptidase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia

NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306

CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

tumor protein p73

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 47, and lissencephaly

PMID:25741868 PMID:34077761

NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128

Kartagener syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

adaptor related protein complex 1 subunit beta 1

NCBI chr14:79,879,482...79,930,778
Ensembl chr14:79,879,533...79,930,778

G

similar to human chromosome 1 open reading frame 127

NCBI chr 5:159,075,217...159,110,642
Ensembl chr 5:159,075,343...159,105,369

G

coiled-coil domain containing 103

CTD Direct Evidence: marker/mechanism

NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757

G

coiled-coil domain 39 molecular ruler complex subunit

NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350

G

coiled-coil domain 40 molecular ruler complex subunit

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Kartagener syndrome

PMID:16199547 PMID:21131974 PMID:22693285 PMID:23255504 PMID:25741868 More...

NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243

G

dynein assembly factor with WD repeats 1

NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635

G

dynein, axonemal, assembly factor 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:19944400 PMID:19944405 PMID:28492532

NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: Kartagener syndrome

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

G

dynein, axonemal, assembly factor 2

ClinVar Annotator: match by term: Kartagener syndrome

PMID:19052621 PMID:24498942

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

dynein, axonemal, assembly factor 3

CTD Direct Evidence: marker/mechanism

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

dynein axonemal assembly factor 4

CTD Direct Evidence: marker/mechanism

NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292

G

dynein, axonemal, heavy chain 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:25927852 PMID:28492532 PMID:32719396

NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350

G

dynein, axonemal, heavy chain 11

susceptibility

DNA:nonsense mutation, missense mutation: :R2852X, R3004Q

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

G

dynein, axonemal, heavy chain 5

susceptibility

DNA:mutations
ClinVar Annotator: match by term: Kartagener syndrome

ClinVar
MouseDO
RGD

PMID:11788826 PMID:16627867 PMID:19357118 PMID:19630565 PMID:23477994 More...

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

dynein, axonemal, intermediate chain 1

susceptibility

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 More...

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

dynein, axonemal, intermediate chain 2

NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378

G

dynein, axonemal, light chain 1

ClinVar Annotator: match by term: Kartagener syndrome

NCBI chr 6:103,747,801...103,779,015
Ensembl chr 6:103,747,753...103,778,878

G

dynein regulatory complex subunit 1

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

G

forkhead box J1

NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237

G

mannose binding lectin 2

severity

DNA:haplotype:promoter:

RGD

NCBI chr 1:228,016,439...228,024,736

G

outer dynein arm docking complex subunit 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:9536098 PMID:17576681 PMID:23261302 PMID:23261303 PMID:25741868 More...

NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925

G

outer dynein arm docking complex subunit 2

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

G

outer dynein arm docking complex subunit 3

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

G

RNA polymerase II, I and III subunit K

ClinVar Annotator: match by term: Kartagener syndrome

NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668

G

radial spoke head component 1

ClinVar Annotator: match by term: Kartagener syndrome | ClinVar Annotator: match by term: Siewert syndrome

PMID:23993197 PMID:24033266 PMID:24518672 PMID:24568568 PMID:25741868 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

G

radial spoke head component 4A

ClinVar Annotator: match by term: Kartagener syndrome

PMID:9536098 PMID:17576681 PMID:23798057 PMID:24824133 PMID:25741868 More...

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

G

slit guidance ligand 2

NCBI chr14:62,616,337...62,955,934
Ensembl chr14:62,617,067...62,955,948

G

sperm associated antigen 1

ClinVar Annotator: match by term: Kartagener syndrome

PMID:24055112 PMID:25741868 PMID:26228299 PMID:27637300 PMID:28492532 More...

NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368

G

zinc finger, MYND-type containing 10

ClinVar Annotator: match by term: Kartagener syndrome

PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More...

NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744

primary ciliary dyskinesia 1

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, intermediate chain 1

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 More...

NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925

G

radial spoke head component 1

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS

PMID:23993197 PMID:24518672 PMID:24568568 PMID:25741868 PMID:25789548 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

primary ciliary dyskinesia 10

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, assembly factor 2

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 More...

NCBI chr 6:87,661,101...87,670,267
Ensembl chr 6:87,660,821...87,670,199

G

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 10

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 6:87,656,360...87,658,849
Ensembl chr 6:87,656,349...87,658,177

primary ciliary dyskinesia 11

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

radial spoke head component 4A

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 More...

NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574

primary ciliary dyskinesia 12

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase I and III subunit C

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 12, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 12

PMID:19200523 PMID:23993197 PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852

G

radial spoke head component 9

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

primary ciliary dyskinesia 13

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, assembly factor 1

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 More...

NCBI chr19:47,624,534...47,652,314
Ensembl chr19:47,624,181...47,652,313

G

TATA-box binding protein associated factor, RNA polymerase 1 subunit C

ClinVar Annotator: match by term: Primary ciliary dyskinesia 13

NCBI chr19:47,652,451...47,658,971
Ensembl chr19:47,652,452...47,658,971

primary ciliary dyskinesia 14

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 39 molecular ruler complex subunit

ClinVar Annotator: match by term: CCDC39-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 14
OMIM:613807
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131972 PMID:22499950 More...

NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350

G

tetratricopeptide repeat domain 14

ClinVar Annotator: match by term: Primary ciliary dyskinesia 14

PMID:21131972 PMID:23255504 PMID:23891469 PMID:24033266 PMID:25741868 More...

NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158

primary ciliary dyskinesia 15

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: CCDC40-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 15
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:21131974 PMID:22499950 More...

NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243

G

alpha glucosidase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 15

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr10:104,529,673...104,546,836
Ensembl chr10:104,529,747...104,546,836

primary ciliary dyskinesia 16

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

aldehyde dehydrogenase 6 family, member A1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656

G

basal body orientation factor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071

G

coenzyme Q6 monooxygenase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,007,814...104,019,888
Ensembl chr 6:104,007,872...104,024,657

G

dynein, axonemal, light chain 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

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

ectonucleoside triphosphate diphosphohydrolase 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,019,095...104,055,311
Ensembl chr 6:104,019,185...104,055,530

G

FAM161 centrosomal protein B

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:103,990,603...104,007,754
Ensembl chr 6:103,992,170...104,018,776

G

lin-52 DREAM MuvB core complex component

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,098,818...104,199,323
Ensembl chr 6:104,099,162...104,194,103

G

mitotic deacetylase associated SANT domain protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:103,784,779...103,854,470
Ensembl chr 6:103,787,873...103,829,178

G

PNMA family member 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:103,782,244...103,784,029
Ensembl chr 6:103,773,889...103,784,567

G

prostaglandin reductase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:103,931,367...103,963,113
Ensembl chr 6:103,931,409...103,963,111

G

visual system homeobox 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018

G

zinc finger protein 410

ClinVar Annotator: match by term: Primary ciliary dyskinesia 16

NCBI chr 6:103,963,265...103,990,252
Ensembl chr 6:103,964,060...103,990,225

primary ciliary dyskinesia 17

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 103

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 17

OMIM
CTD
ClinVar

PMID:22581229 PMID:23891469 PMID:24033266 PMID:24357714 PMID:25326635 More...

NCBI chr10:87,846,327...87,849,959
Ensembl chr10:87,846,357...87,849,757

G

family with sequence similarity 187, member A

ClinVar Annotator: match by term: Primary ciliary dyskinesia 17

NCBI chr10:87,850,861...87,852,332
Ensembl chr10:87,846,285...87,852,471

G

glial fibrillary acidic protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 17

NCBI chr10:87,852,891...87,861,631
Ensembl chr10:87,852,890...87,861,589

primary ciliary dyskinesia 18

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

complexin 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 18

NCBI chr14:1,184,677...1,216,392

G

dynein, axonemal, assembly factor 5

ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23040496 More...

NCBI chr12:15,453,636...15,492,722
Ensembl chr12:15,453,636...15,492,739

G

protein kinase cAMP-dependent type I regulatory subunit beta

ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18

PMID:25741868 PMID:28492532 PMID:29363216

NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942

primary ciliary dyskinesia 19

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein axonemal assembly factor 11

ClinVar Annotator: match by term: DNAAF11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 19
OMIM:614935
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:20301301 PMID:23122589 More...

NCBI chr 7:98,141,525...98,245,906
Ensembl chr 7:98,144,763...98,245,837

primary ciliary dyskinesia 2

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, assembly factor 3

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 More...

NCBI chr 1:69,291,300...69,299,365
Ensembl chr 1:69,291,454...69,299,344

G

troponin I3, cardiac type

ClinVar Annotator: match by term: DNAAF3-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 2

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 1:69,299,900...69,303,582
Ensembl chr 1:69,299,900...69,303,580

primary ciliary dyskinesia 20

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer dynein arm docking complex subunit 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 20

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23261302 PMID:23261303 More...

NCBI chr 1:96,392,132...96,420,926
Ensembl chr 1:96,394,824...96,420,925

primary ciliary dyskinesia 21

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein regulatory complex subunit 1

OMIM:615294
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 21

OMIM
MouseDO
CTD
ClinVar

PMID:12746204 PMID:16199547 PMID:23354437 PMID:24033266 PMID:25741868 More...

NCBI chr 6:26,025,004...26,059,438
Ensembl chr 6:26,025,005...26,059,414

primary ciliary dyskinesia 22

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

zinc finger, MYND-type containing 10

OMIM:615444
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 22 | ClinVar Annotator: match by term: ZMYND10-related condition

OMIM
MouseDO
CTD
ClinVar

PMID:23891469 PMID:23891471 PMID:25741868 PMID:26139845 PMID:28492532 More...

NCBI chr 8:108,220,386...108,224,745
Ensembl chr 8:108,220,386...108,224,744

primary ciliary dyskinesia 23

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer dynein arm docking complex subunit 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 23
OMIM:615451
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23806086 PMID:23849778 More...

NCBI chr17:55,216,877...55,409,872
Ensembl chr17:55,218,991...55,409,399

primary ciliary dyskinesia 24

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

radial spoke head component 1

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 24

OMIM
CTD
ClinVar

PMID:9536098 PMID:17576681 PMID:23993197 PMID:24033266 PMID:24518672 More...

NCBI chr20:9,341,910...9,360,640
Ensembl chr20:9,341,913...9,360,640

primary ciliary dyskinesia 25

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein axonemal assembly factor 4

susceptibility

ClinVar Annotator: match by term: DNAAF4-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 25
OMIM:615482
CTD Direct Evidence: marker/mechanism

ClinVar
OMIM
MouseDO
CTD

PMID:12954984 PMID:23872636 PMID:24033266 PMID:24824133 PMID:25186273 More...

NCBI chr 8:73,696,394...73,711,315
Ensembl chr 8:73,698,103...73,711,292

primary ciliary dyskinesia 26

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 298

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 26

OMIM
CTD
ClinVar

PMID:24094744 PMID:25741868 PMID:28492532

NCBI chr11:30,181,916...30,191,302
Ensembl chr11:30,181,905...30,191,346

primary ciliary dyskinesia 27

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

coiled-coil domain containing 65

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 27

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17576681 PMID:23991085 PMID:24033266 More...

NCBI chr 7:129,857,118...129,870,803
Ensembl chr 7:129,857,247...129,870,803

primary ciliary dyskinesia 28

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

RNA polymerase II, I and III subunit K

ClinVar Annotator: match by term: Primary ciliary dyskinesia 28

NCBI chr 7:67,347,118...67,359,466
Ensembl chr 7:67,356,113...67,357,668

G

sperm associated antigen 1

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 28, WITH OR WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 28
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24055112 More...

NCBI chr 7:67,361,474...67,421,369
Ensembl chr 7:67,361,477...67,421,368

G

vacuolar protein sorting 13 homolog B

ClinVar Annotator: match by term: Primary ciliary dyskinesia 28

PMID:25741868 PMID:28492532

NCBI chr 7:66,557,862...67,128,429
Ensembl chr 7:66,558,471...67,128,429

primary ciliary dyskinesia 29

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cyclin O

ClinVar Annotator: match by term: CCNO-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 29
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:24747639 PMID:25741868 PMID:26139845 PMID:28492532 PMID:30067075 More...

NCBI chr 2:44,630,873...44,633,912
Ensembl chr 2:44,626,369...44,633,914

G

glutaryl-CoA dehydrogenase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 29

PMID:8900227 PMID:9600243 PMID:10649503 PMID:10699052 PMID:10960496 More...

NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681

primary ciliary dyskinesia 3

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

BTB domain and CNC homolog 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr 5:46,632,338...46,982,676
Ensembl chr 5:46,638,317...46,977,877

G

coiled-coil domain 40 molecular ruler complex subunit

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr10:104,486,748...104,527,284
Ensembl chr10:104,486,748...104,527,243

G

dynein, axonemal, heavy chain 11

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

G

dynein, axonemal, heavy chain 5

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 More...

NCBI chr 2:78,937,788...79,255,551
Ensembl chr 2:78,937,800...79,254,890

G

growth arrest-specific 2 like 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881

G

multiciliate differentiation and DNA synthesis associated cell cycle protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601

G

macrophage expressed 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr 1:209,452,176...209,456,692
Ensembl chr 1:209,452,133...209,458,855

G

nuclear factor kappa B subunit 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 3

NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404

primary ciliary dyskinesia 30

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer dynein arm docking complex subunit 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 30
OMIM:616037
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25192045 More...

NCBI chr 8:20,520,898...20,534,499
Ensembl chr 8:20,520,898...20,534,499

G

PRKCSH beta subunit of glucosidase II

ClinVar Annotator: match by term: Primary ciliary dyskinesia 30

NCBI chr 8:20,534,787...20,546,493
Ensembl chr 8:20,534,880...20,546,492

primary ciliary dyskinesia 32

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein light chain Tctex-type 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881

G

ezrin

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,967,961...47,011,505
Ensembl chr 1:46,967,658...47,011,505

G

fibronectin type III domain containing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:47,281,839...47,364,247
Ensembl chr 1:47,281,844...47,364,259

G

general transcription factor IIH subunit 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,656,804...46,663,512
Ensembl chr 1:46,656,859...46,664,939

G

radial spoke head 3

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Primary ciliary dyskinesia 32
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:25741868 PMID:26073779 More...

NCBI chr 1:47,101,961...47,155,201
Ensembl chr 1:47,101,961...47,154,232

G

serine active site containing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,620,741...46,656,801
Ensembl chr 1:46,620,498...46,656,727

G

superoxide dismutase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189

G

synaptotagmin-like 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,896,308...46,967,461
Ensembl chr 1:46,911,217...46,967,460

G

T-cell activation RhoGTPase activating protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:47,170,725...47,179,705
Ensembl chr 1:47,170,725...47,179,792

G

transmembrane protein 181

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,830,812...46,885,173
Ensembl chr 1:46,830,710...46,884,295

G

TUB like protein 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia 32

NCBI chr 1:46,682,416...46,813,167
Ensembl chr 1:46,682,863...46,809,688

primary ciliary dyskinesia 33

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

acyl-CoA synthetase family member 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553

G

ankyrin repeat domain containing 11

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962

G

adenine phosphoribosyl transferase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,626,201...50,628,491
Ensembl chr19:50,626,202...50,628,431

G

Btg3 associated nuclear protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,007,710...50,082,742
Ensembl chr19:50,007,881...50,082,738

G

carbonic anhydrase 5A

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:49,973,092...50,002,948
Ensembl chr19:49,973,107...50,002,906

G

CBFA2/RUNX1 partner transcriptional co-repressor 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610

G

cadherin 15

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105

G

cyclin-dependent kinase 10

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078

G

chromatin licensing and DNA replication factor 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659

G

charged multivesicular body protein 1A

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436

G

copine 7

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,164,316...51,182,676
Ensembl chr19:51,166,034...51,182,677

G

cytosolic thiouridylase subunit 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,539,184...50,544,629
Ensembl chr19:50,539,352...50,544,623

G

cytochrome b-245 alpha chain

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,487,598...50,495,669
Ensembl chr19:50,487,597...50,495,721

G

dysbindin domain containing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,539,154...51,548,441
Ensembl chr19:51,539,148...51,548,444

G

differentially expressed in FDCP 8 homolog

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,474,783...51,495,638
Ensembl chr19:51,474,878...51,495,638

G

dipeptidase 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,209,831...51,237,004
Ensembl chr19:51,219,660...51,235,257

G

FA complementation group A

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,304,126...51,362,586
Ensembl chr19:51,304,021...51,362,527

G

galactosamine (N-acetyl)-6-sulfatase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246

G

growth arrest specific 8

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33
OMIM:616726
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
MouseDO
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25640679 More...

NCBI chr19:51,552,770...51,572,323
Ensembl chr19:51,552,816...51,572,305

G

interleukin 17C

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,484,890...50,486,169
Ensembl chr19:50,484,890...50,486,169

G

junctophilin 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:49,793,967...49,855,338
Ensembl chr19:49,793,092...49,855,338

G

kelch domain containing 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:49,860,975...49,894,027
Ensembl chr19:49,860,967...49,894,868

G

melanocortin 1 receptor

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192

G

mevalonate diphosphate decarboxylase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,496,366...50,506,429
Ensembl chr19:50,496,367...50,507,971

G

PABPN1 like

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,669,965...50,673,409
Ensembl chr19:50,669,967...50,673,366

G

piezo-type mechanosensitive ion channel component 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501

G

ring finger protein 166

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,529,434...50,539,274
Ensembl chr19:50,529,434...50,539,274

G

ribosomal protein L13

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,153,990...51,156,541
Ensembl chr19:51,153,924...51,163,014

G

solute carrier family 7 member 5

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:49,935,220...49,963,823
Ensembl chr19:49,935,220...49,963,823

G

snail family transcriptional repressor 3

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,516,771...50,529,295
Ensembl chr19:50,516,771...50,523,486

G

spermatogenesis associated 2-like

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,269,078...51,273,605
Ensembl chr19:51,269,078...51,273,510

G

spermatogenesis associated 33

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,246,514...51,258,894
Ensembl chr19:51,246,514...51,258,894

G

spire-type actin nucleation factor 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,373,368...51,411,920
Ensembl chr19:51,373,228...51,411,920

G

transcription factor 25

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,415,341...51,449,725
Ensembl chr19:51,415,543...51,449,723

G

trafficking protein particle complex subunit 2L

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,662,507...50,666,193
Ensembl chr19:50,662,507...50,666,192

G

tubulin, beta 3 class III

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,457,187...51,466,243
Ensembl chr19:51,457,184...51,466,243

G

VPS9 domain containing 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,276,998...51,290,726
Ensembl chr19:51,277,000...51,290,634

G

zinc finger CCCH-type containing 18

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,434,864...50,479,855
Ensembl chr19:50,434,903...50,479,854

G

zinc finger protein 26

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr 8:18,959,656...18,985,647
Ensembl chr 8:18,965,271...18,988,325

G

zinc finger protein (C2H2 type) 276

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:51,291,005...51,304,240
Ensembl chr19:51,290,777...51,304,049

G

zinc finger protein 469

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,282,337...50,324,010

G

zinc finger protein, multitype 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 33

NCBI chr19:50,334,352...50,391,029
Ensembl chr19:50,334,682...50,390,591

primary ciliary dyskinesia 34

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

DnaJ heat shock protein family (Hsp40) member B13

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 34

OMIM
CTD
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

primary ciliary dyskinesia 35

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

outer dynein arm docking complex subunit 4

OMIM:617092
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 35

OMIM
MouseDO
CTD
ClinVar

PMID:25741868 PMID:27486780

NCBI chr10:85,480,089...85,508,603
Ensembl chr10:85,480,094...85,508,603

primary ciliary dyskinesia 36

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein axonemal assembly factor 6

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 36, X-linked

OMIM
CTD
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

primary ciliary dyskinesia 37

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, heavy chain 1

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 37 | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 37

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:24360805 More...

NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350

primary ciliary dyskinesia 38

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 300

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 38

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

primary ciliary dyskinesia 39

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

leucine rich repeat containing 56

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 39 | ClinVar Annotator: match by term: LRRC56-related condition

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

primary ciliary dyskinesia 40

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, heavy chain 9

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 40 | ClinVar Annotator: match by term: DNAH9-related condition

PMID:9536098 PMID:16199547 PMID:17576681 PMID:24033266 PMID:25741868 More...

NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949

primary ciliary dyskinesia 41

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

growth arrest-specific 2 like 2

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 41 | ClinVar Annotator: match by term: GAS2L2-related condition

PMID:25741868 PMID:30665704

NCBI chr10:68,222,475...68,229,877
Ensembl chr10:68,222,475...68,229,881

primary ciliary dyskinesia 42

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

multiciliate differentiation and DNA synthesis associated cell cycle protein

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 42, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 42

PMID:1523039 PMID:8813877 PMID:24033266 PMID:25048963 PMID:25741868 More...

NCBI chr 2:44,636,820...44,644,551
Ensembl chr 2:44,636,856...44,642,601

primary ciliary dyskinesia 43

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

forkhead box J1

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 43

PMID:25741868 PMID:31630787 PMID:33077954 PMID:34132502

NCBI chr10:101,566,299...101,570,370
Ensembl chr10:101,566,304...101,570,237

primary ciliary dyskinesia 44

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NIMA-related kinase 10

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 44

NCBI chr15:10,387,063...10,564,177
Ensembl chr15:10,381,140...10,559,722

primary ciliary dyskinesia 45

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, heavy chain 6

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45

NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376

G

tetratricopeptide repeat domain 12

ClinVar Annotator: match by term: CILIARY DYSKINESIA, PRIMARY, 45, WITHOUT SITUS INVERSUS | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 45

PMID:1978331 PMID:25741868

NCBI chr 8:49,799,916...49,847,940
Ensembl chr 8:49,799,920...49,847,087

Primary Ciliary Dyskinesia 46

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

serine/threonine kinase 36

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 46 | ClinVar Annotator: match by term: STK36-related condition

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

Primary Ciliary Dyskinesia 48

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

NME/NM23 family member 5

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 48, without situs inversus

PMID:25741868 PMID:32185794 PMID:32950024

NCBI chr18:26,163,558...26,180,742
Ensembl chr18:26,163,555...26,180,794

Primary Ciliary Dyskinesia 49

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cilia and flagella associated protein 74

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus

PMID:25741868 PMID:32555313 PMID:36047773

NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071

primary ciliary dyskinesia 5

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

Hydin, axonemal central pair apparatus protein

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 More...

NCBI chr19:38,236,996...38,583,271
Ensembl chr19:38,236,464...38,583,264

Primary Ciliary Dyskinesia 50

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, heavy chain 7

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 50

PMID:25741868 PMID:34476482 PMID:35543642

NCBI chr 9:54,960,235...55,266,529
Ensembl chr 9:54,960,440...55,262,297

Primary Ciliary Dyskinesia 51

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

bromodomain and WD repeat domain containing 1

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 51

PMID:25741868 PMID:33389130

NCBI chr11:35,286,364...35,378,768
Ensembl chr11:35,288,313...35,378,768

Primary Ciliary Dyskinesia 52

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein assembly factor with WD repeats 1

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 52

PMID:25741868 PMID:28991257 PMID:36074124

NCBI chr 9:84,435,552...84,472,632
Ensembl chr 9:84,435,552...84,472,635

Primary Ciliary Dyskinesia 53

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

calaxin

ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 53

PMID:25741868 PMID:36727596

NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538

primary ciliary dyskinesia 6

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

anillin, actin binding protein

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr 8:20,858,227...20,921,602
Ensembl chr 8:20,858,228...20,921,538

G

acyloxyacyl hydrolase

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr17:43,808,110...44,049,458
Ensembl chr17:43,809,638...44,049,148

G

engulfment and cell motility 1

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr17:44,286,495...44,822,668
Ensembl chr17:44,286,485...44,822,788

G

G protein-coupled receptor 141

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr17:45,117,818...45,180,053
Ensembl chr17:45,117,812...45,180,027

G

microtubule associated tyrosine carboxypeptidase 2

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr 8:20,921,637...20,971,076
Ensembl chr 8:20,921,244...20,971,069

G

NME/NM23 family member 8

CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

OMIM
CTD
ClinVar

PMID:9536098 PMID:16199547 PMID:17360648 PMID:17576681 PMID:20301301 More...

NCBI chr17:45,237,022...45,304,948
Ensembl chr17:45,238,120...45,304,948

G

secreted frizzled-related protein 4

ClinVar Annotator: match by term: Primary ciliary dyskinesia 6

NCBI chr17:45,278,867...45,330,806
Ensembl chr17:45,234,097...45,330,736

primary ciliary dyskinesia 7

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

cell division cycle associated 7 like

ClinVar Annotator: match by term: DNAH11-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 7

PMID:18022865 PMID:22184204 PMID:24033266 PMID:24450482 PMID:25741868 More...

NCBI chr 6:138,793,953...138,839,889
Ensembl chr 6:138,794,228...138,839,888

G

dynein, axonemal, heavy chain 11

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 More...

NCBI chr 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536

primary ciliary dyskinesia 9

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

dynein, axonemal, intermediate chain 2

ClinVar Annotator: match by term: DNAI2-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 9
CTD Direct Evidence: marker/mechanism

OMIM
ClinVar
CTD

PMID:9536098 PMID:16199547 PMID:17576681 PMID:18950741 PMID:20301301 More...

NCBI chr10:99,759,966...99,793,379
Ensembl chr10:99,759,966...99,793,378

Stromme syndrome

term browser

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

G

centromere protein F

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 More...

NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669

Term paths to the root

Path 1
Term	Annotations
disease	18969
disease of anatomical entity	18248
respiratory system disease	3615
Ciliary Motility Disorders	376
primary ciliary dyskinesia	355
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY	1
Kartagener syndrome	29
Primary Ciliary Dyskinesia 46	1
Primary Ciliary Dyskinesia 48	1
Primary Ciliary Dyskinesia 49	1
Primary Ciliary Dyskinesia 50	1
Primary Ciliary Dyskinesia 51	1
Primary Ciliary Dyskinesia 52	1
Primary Ciliary Dyskinesia 53	1
Stromme syndrome	1
primary ciliary dyskinesia 1	2
primary ciliary dyskinesia 10	2
primary ciliary dyskinesia 11	1
primary ciliary dyskinesia 12	2
primary ciliary dyskinesia 13	2
primary ciliary dyskinesia 14	2
primary ciliary dyskinesia 15	2
primary ciliary dyskinesia 16	12
primary ciliary dyskinesia 17	3
primary ciliary dyskinesia 18	3
primary ciliary dyskinesia 19	1
primary ciliary dyskinesia 2	2
primary ciliary dyskinesia 20	1
primary ciliary dyskinesia 21	1
primary ciliary dyskinesia 22	1
primary ciliary dyskinesia 23	1
primary ciliary dyskinesia 24	1
primary ciliary dyskinesia 25	1
primary ciliary dyskinesia 26	1
primary ciliary dyskinesia 27	1
primary ciliary dyskinesia 28	3
primary ciliary dyskinesia 29	2
primary ciliary dyskinesia 3	8
primary ciliary dyskinesia 30	2
primary ciliary dyskinesia 32	11
primary ciliary dyskinesia 33	42
primary ciliary dyskinesia 34	1
primary ciliary dyskinesia 35	1
primary ciliary dyskinesia 36	1
primary ciliary dyskinesia 37	1
primary ciliary dyskinesia 38	1
primary ciliary dyskinesia 39	1
primary ciliary dyskinesia 4	0
primary ciliary dyskinesia 40	1
primary ciliary dyskinesia 41	1
primary ciliary dyskinesia 42	1
primary ciliary dyskinesia 43	1
primary ciliary dyskinesia 44	1
primary ciliary dyskinesia 45	2
primary ciliary dyskinesia 5	1
primary ciliary dyskinesia 6	7
primary ciliary dyskinesia 7	2
primary ciliary dyskinesia 8	0
primary ciliary dyskinesia 9	1
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18248
nervous system disease	14089
Neurologic Manifestations	10052
sensory system disease	6960
Otorhinolaryngologic Diseases	1739
Ciliary Motility Disorders	376
primary ciliary dyskinesia	355
CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY	1
Kartagener syndrome	29
Primary Ciliary Dyskinesia 46	1
Primary Ciliary Dyskinesia 48	1
Primary Ciliary Dyskinesia 49	1
Primary Ciliary Dyskinesia 50	1
Primary Ciliary Dyskinesia 51	1
Primary Ciliary Dyskinesia 52	1
Primary Ciliary Dyskinesia 53	1
Stromme syndrome	1
primary ciliary dyskinesia 1	2
primary ciliary dyskinesia 10	2
primary ciliary dyskinesia 11	1
primary ciliary dyskinesia 12	2
primary ciliary dyskinesia 13	2
primary ciliary dyskinesia 14	2
primary ciliary dyskinesia 15	2
primary ciliary dyskinesia 16	12
primary ciliary dyskinesia 17	3
primary ciliary dyskinesia 18	3
primary ciliary dyskinesia 19	1
primary ciliary dyskinesia 2	2
primary ciliary dyskinesia 20	1
primary ciliary dyskinesia 21	1
primary ciliary dyskinesia 22	1
primary ciliary dyskinesia 23	1
primary ciliary dyskinesia 24	1
primary ciliary dyskinesia 25	1
primary ciliary dyskinesia 26	1
primary ciliary dyskinesia 27	1
primary ciliary dyskinesia 28	3
primary ciliary dyskinesia 29	2
primary ciliary dyskinesia 3	8
primary ciliary dyskinesia 30	2
primary ciliary dyskinesia 32	11
primary ciliary dyskinesia 33	42
primary ciliary dyskinesia 34	1
primary ciliary dyskinesia 35	1
primary ciliary dyskinesia 36	1
primary ciliary dyskinesia 37	1
primary ciliary dyskinesia 38	1
primary ciliary dyskinesia 39	1
primary ciliary dyskinesia 4	0
primary ciliary dyskinesia 40	1
primary ciliary dyskinesia 41	1
primary ciliary dyskinesia 42	1
primary ciliary dyskinesia 43	1
primary ciliary dyskinesia 44	1
primary ciliary dyskinesia 45	2
primary ciliary dyskinesia 5	1
primary ciliary dyskinesia 6	7
primary ciliary dyskinesia 7	2
primary ciliary dyskinesia 8	0
primary ciliary dyskinesia 9	1

paths to the root