DAW1

Summary

DAW1 (dynein assembly factor with WD repeats 1, HGNC:26383) is a protein-coding gene on chromosome 2q36.3, encoding Dynein assembly factor with WD repeat domains 1 (Q8N136). Required for axonemal dynein assembly and ciliary motility in ciliated organs, including Kupffer’s vesicle, during embryogenesis.

Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in protein polyubiquitination. Predicted to act upstream of with a positive effect on outer dynein arm assembly. Predicted to act upstream of or within with a positive effect on intraciliary transport. Predicted to act upstream of or within several processes, including cerebrospinal fluid circulation; determination of left/right symmetry; and heart development. Predicted to be located in ciliary basal body. Predicted to be part of SCF ubiquitin ligase complex. Implicated in primary ciliary dyskinesia.

Source: NCBI Gene 164781 — RefSeq curated summary.

At a glance

• Gene–disease (curated): ciliary dyskinesia, primary, 52 (Strong, GenCC) — +2 more curated relationships
• GWAS associations: 5
• Clinical variants (ClinVar): 75 total — 5 pathogenic
• Phenotypes (HPO): 64
• MANE Select transcript: NM_178821

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26383
Approved symbol	DAW1
Name	dynein assembly factor with WD repeats 1
Location	2q36.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ25955, ODA16, DNAAF18
Ensembl gene	ENSG00000123977
Ensembl biotype	protein_coding
OMIM	620279
Entrez	164781

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 3 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined

ENST00000309931, ENST00000373666, ENST00000440997, ENST00000454999, ENST00000472604, ENST00000947949

RefSeq mRNA: 2 — MANE Select: NM_178821 NM_001330004, NM_178821

CCDS: CCDS2470

Canonical transcript exons

ENST00000309931 — 13 exons

Exon	Start	End
ENSE00000843786	227906236	227906338
ENSE00001012565	227904929	227905035
ENSE00001012566	227907138	227907252
ENSE00001071094	227903002	227903109
ENSE00001787441	227923934	227924344
ENSE00001903064	227871631	227871729
ENSE00003459227	227921399	227921561
ENSE00003483022	227891255	227891313
ENSE00003521938	227918780	227918856
ENSE00003566836	227898182	227898281
ENSE00003600449	227893795	227893917
ENSE00003631942	227885351	227885423
ENSE00003786766	227889856	227890000

Expression profiles

Bgee: expression breadth ubiquitous, 128 present calls, max score 96.47.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0614 / max 137.5809, expressed in 365 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
25769	0.8635	315
25767	0.1116	45
25768	0.0682	14
25771	0.0181	5

Top tissues by expression

226 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	96.47	gold quality
bronchial epithelial cell	CL:0002328	95.99	gold quality
oocyte	CL:0000023	95.91	gold quality
bronchus	UBERON:0002185	94.49	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	90.59	gold quality
left testis	UBERON:0004533	90.56	gold quality
right uterine tube	UBERON:0001302	90.55	gold quality
sperm	CL:0000019	90.41	gold quality
right testis	UBERON:0004534	90.22	gold quality
testis	UBERON:0000473	88.21	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.58	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.75	gold quality
adult organism	UBERON:0007023	81.76	gold quality
oviduct epithelium	UBERON:0004804	81.59	gold quality
buccal mucosa cell	CL:0002336	79.65	gold quality
epithelium of nasopharynx	UBERON:0001951	78.64	gold quality
nasopharynx	UBERON:0001728	78.63	gold quality
fallopian tube	UBERON:0003889	77.94	gold quality
nucleus accumbens	UBERON:0001882	73.49	gold quality
caudate nucleus	UBERON:0001873	72.17	gold quality
nasal cavity epithelium	UBERON:0005384	71.32	silver quality
nasal cavity mucosa	UBERON:0001826	70.86	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	68.97	gold quality
caput epididymis	UBERON:0004358	68.12	gold quality
right lung	UBERON:0002167	66.47	gold quality
putamen	UBERON:0001874	65.47	gold quality
hypothalamus	UBERON:0001898	65.10	gold quality
upper lobe of left lung	UBERON:0008952	64.27	gold quality
corpus callosum	UBERON:0002336	62.61	gold quality
upper lobe of lung	UBERON:0008948	62.49	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-9388	yes	370.20
E-ANND-3	yes	7.87
E-CURD-10	no	183.30

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting DAW1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-4677-3P	99.49	67.91	1246
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-6876-3P	98.97	65.69	765
HSA-MIR-626	98.89	66.21	762
HSA-MIR-4662A-5P	98.48	67.18	1007
HSA-MIR-12116	97.94	68.91	595
HSA-MIR-665	97.60	65.64	1781

Literature-anchored findings (GeneRIF, showing 3)

• This paper describes a Chlamydmonas reinhardtii protein with 70% similarity to human WD repeat domain 69 protein. The protein is expressed in flagella and required for assembly of the flagellar outer row dynein ATPase, though it is not a dynein subunit. (PMID:16093345)
• Purification and crystal structure of human ODA16: Implications for ciliary import of outer dynein arms by the intraflagellar transport machinery. (PMID:32239748)
• Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities. (PMID:36074124)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	daw1	ENSDARG00000021462
mus_musculus	Daw1	ENSMUSG00000053161
rattus_norvegicus	Daw1	ENSRNOG00000016247

Paralogs (26): PAFAH1B1 (ENSG00000007168), SNRNP40 (ENSG00000060688), WDR62 (ENSG00000075702), WDR7 (ENSG00000091157), TBL2 (ENSG00000106638), PAK1IP1 (ENSG00000111845), WDR75 (ENSG00000115368), DCAF4 (ENSG00000119599), TEP1 (ENSG00000129566), AHI1 (ENSG00000135541), WDR38 (ENSG00000136918), MAPKBP1 (ENSG00000137802), POC1B (ENSG00000139323), NEDD1 (ENSG00000139350), COP1 (ENSG00000143207), WDR17 (ENSG00000150627), WDR43 (ENSG00000163811), POC1A (ENSG00000164087), WDR88 (ENSG00000166359), WDR81 (ENSG00000167716), DCAF4L2 (ENSG00000176566), DCAF4L1 (ENSG00000182308), WDR27 (ENSG00000184465), NWD1 (ENSG00000188039), WDR5 (ENSG00000196363), WDR5B (ENSG00000196981)

Protein

Protein identifiers

Dynein assembly factor with WD repeat domains 1 — Q8N136 (reviewed: Q8N136)

Alternative names: Outer row dynein assembly protein 16 homolog, WD repeat-containing protein 69

All UniProt accessions (5): A0A140VKH6, C9JBF9, C9JP90, Q8N136, F8WCV0

UniProt curated annotations — full annotation on UniProt →

Function. Required for axonemal dynein assembly and ciliary motility in ciliated organs, including Kupffer’s vesicle, during embryogenesis. Facilitates the onset of robust cilia motility during development.

Subunit / interactions. Interacts with IFT46.

Subcellular location. Cytoplasm. Cytoskeleton. Flagellum basal body. Flagellum axoneme.

Disease relevance. Ciliary dyskinesia, primary, 52 (CILD52) [MIM:620570] A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. CILD52 is an autosomal recessive form characterized by laterality defects, and mild respiratory symptoms. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the WD repeat WDR69 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N136-1	1	yes
Q8N136-2	2

RefSeq proteins (2): NP_001316933, NP_849143* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400

UniProt features (62 total): strand 33, sequence variant 10, repeat 8, turn 6, splice variant 2, chain 1, sequence conflict 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
5NNZ	X-RAY DIFFRACTION	2.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N136-F1	96.63	0.97

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 197 (showing top): TGCGCANK_UNKNOWN, GOCC_MICROTUBULE_ORGANIZING_CENTER, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, GOBP_MICROTUBULE_BUNDLE_FORMATION, RFX1_02, GOBP_CELL_PROJECTION_ORGANIZATION, GOBP_AXONEME_ASSEMBLY

GO Biological Process (9): protein polyubiquitination (GO:0000209), determination of left/right symmetry (GO:0007368), heart development (GO:0007507), outer dynein arm assembly (GO:0036158), intraciliary transport (GO:0042073), cerebrospinal fluid circulation (GO:0090660), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), establishment of localization in cell (GO:0051649), axonemal dynein complex assembly (GO:0070286)

GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)

GO Cellular Component (9): extracellular region (GO:0005576), cilium (GO:0005929), SCF ubiquitin ligase complex (GO:0019005), ciliary basal body (GO:0036064), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), motile cilium (GO:0031514), cell projection (GO:0042995), transferase complex (GO:1990234)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cilium	3
cellular anatomical structure	3
protein ubiquitination	1
determination of bilateral symmetry	1
left/right pattern formation	1
animal organ development	1
circulatory system development	1
axonemal dynein complex assembly	1
transport along microtubule	1
cilium organization	1
epithelial cilium movement involved in extracellular fluid movement	1
nervous system process	1
cilium movement	1
extracellular transport	1
microtubule-based transport	1
establishment of localization	1
cellular localization	1
axoneme assembly	1
protein-containing complex assembly	1
enzyme-substrate adaptor activity	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cullin-RING ubiquitin ligase complex	1
microtubule organizing center	1
intracellular anatomical structure	1
intracellular membraneless organelle	1
catalytic complex	1

Protein interactions and networks

STRING

1083 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DAW1	IFT46	Q9NQC8	983
DAW1	DNAAF3	Q8N9W5	653
DAW1	DNAAF4	Q8WXU2	642
DAW1	DNAAF1	Q8NEP3	582
DAW1	ODAD3	A5D8V7	571
DAW1	ODAD4	Q96NG3	559
DAW1	IFT81	Q8WYA0	546
DAW1	DNAAF19	Q8IW40	542
DAW1	TEKT1	Q969V4	531
DAW1	IFT74	Q96LB3	522
DAW1	DRC11	Q86XH1	518
DAW1	DRC2	Q8IXS2	509
DAW1	DNAAF2	Q9NVR5	507
DAW1	IFT56	A0AVF1	496
DAW1	CFAP45	Q9UL16	495

IntAct

5 interactions, top by confidence:

A	B	Type	Score
SUV39H1	CBX5	psi-mi:“MI:0914”(association)	0.950
DAW1	SRPK2	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
DAW1	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
KMT5A	RSL1D1	psi-mi:“MI:0914”(association)	0.350

BioGRID (10): SETD8 (Affinity Capture-MS), SUV39H1 (Affinity Capture-MS), RPL26L1 (Affinity Capture-MS), DAW1 (Affinity Capture-MS), RPL36 (Affinity Capture-MS), RALY (Affinity Capture-MS), CBX5 (Affinity Capture-MS), HIST1H3A (Affinity Capture-MS), DAW1 (Biochemical Activity), DAW1 (Biochemical Activity)

ESM2 similar proteins: A0A223GEB2, A1L271, D3Z7A5, G1SJB4, G4MQX3, O14775, O18640, O24076, O35353, O42248, O42249, O74184, P16520, P17343, P25387, P26308, P29387, P41318, P52287, P62881, P62882, P63243, P63244, P63245, P63246, P63247, P68040, P79959, Q01369, Q0P593, Q1LV15, Q20636, Q25189, Q3Y8L7, Q4R7Y4, Q4R8E7, Q5BK30, Q5FWQ6, Q5RDY7, Q61011

Diamond homologs: A1CJY4, A1D7I5, A2QEV8, A3LX18, A4RDD7, A5DGL8, A5DVY3, A6RUL1, A6ZMK5, A7EF03, A7RM20, A7TH19, A8QBF3, A8WVX8, A8XYW9, B0BNA7, B0XFT7, B0XYC8, B3MVL6, B3N4C7, B4GSH1, B4I195, B4JB43, B4KGX9, B4LUA5, B4N0L0, B4NW98, B4Q354, B5FZ19, B8M0Q1, E3LB80, O02195, O13985, P0CS32, P0CS33, P0CS38, P0CS39, P14197, P20053, P40217

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

75 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	0
Uncertain significance	53
Likely benign	7
Benign	3

Top pathogenic / likely-pathogenic (5)

Variant ID	HGVS	Classification
1325631	NM_178821.3(DAW1):c.427A>G (p.Asn143Asp)	Pathogenic
1325691	NM_178821.3(DAW1):c.357G>A (p.Trp119Ter)	Pathogenic
1325692	NM_178821.3(DAW1):c.1091G>C (p.Ser364Thr)	Pathogenic
1325693	NM_178821.3(DAW1):c.197T>A (p.Leu66Ter)	Pathogenic
1325694	NM_178821.3(DAW1):c.1116G>T (p.Trp372Cys)	Pathogenic

SpliceAI

1937 predictions. Top by Δscore:

Variant	Effect	Δscore
2:227871725:GCCAG:G	donor_gain	1.0000
2:227871727:CAG:C	donor_loss	1.0000
2:227871730:GTAC:G	donor_loss	1.0000
2:227889996:TTAAG:T	donor_loss	1.0000
2:227889997:TAAG:T	donor_loss	1.0000
2:227889998:AAG:A	donor_loss	1.0000
2:227889999:AGGT:A	donor_loss	1.0000
2:227890000:GGTAA:G	donor_loss	1.0000
2:227890001:GTAAT:G	donor_loss	1.0000
2:227890002:T:G	donor_loss	1.0000
2:227903092:G:GT	donor_gain	1.0000
2:227903092:G:T	donor_gain	1.0000
2:227903108:GA:G	donor_gain	1.0000
2:227903110:G:GG	donor_gain	1.0000
2:227904924:TCTA:T	acceptor_loss	1.0000
2:227904926:TAGGG:T	acceptor_loss	1.0000
2:227904927:A:AG	acceptor_gain	1.0000
2:227904927:AG:A	acceptor_gain	1.0000
2:227904928:G:A	acceptor_loss	1.0000
2:227904928:G:GG	acceptor_gain	1.0000
2:227904928:GG:G	acceptor_gain	1.0000
2:227904928:GGGAC:G	acceptor_gain	1.0000
2:227905032:G:GT	donor_gain	1.0000
2:227905033:A:T	donor_gain	1.0000
2:227905033:AAGG:A	donor_loss	1.0000
2:227905035:GGTAA:G	donor_loss	1.0000
2:227905036:G:T	donor_loss	1.0000
2:227905037:T:A	donor_loss	1.0000
2:227907121:T:TA	acceptor_gain	1.0000
2:227907130:A:AG	acceptor_gain	1.0000

AlphaMissense

2731 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:227893806:G:A	G110E	0.999
2:227893808:A:C	S111R	0.999
2:227893810:C:A	S111R	0.999
2:227893810:C:G	S111R	0.999
2:227893823:T:C	C116R	0.999
2:227893825:C:G	C116W	0.999
2:227893887:T:A	V137D	0.999
2:227898193:C:A	A151D	0.999
2:227898198:G:T	G153W	0.999
2:227898199:G:A	G153E	0.999
2:227898201:T:C	S154P	0.999
2:227898204:T:C	F155L	0.999
2:227898206:T:A	F155L	0.999
2:227898206:T:G	F155L	0.999
2:227898207:G:C	D156H	0.999
2:227898208:A:T	D156V	0.999
2:227898225:T:A	W162R	0.999
2:227898225:T:C	W162R	0.999
2:227903045:G:A	G195E	0.999
2:227903047:A:C	S196R	0.999
2:227903049:T:A	S196R	0.999
2:227903049:T:G	S196R	0.999
2:227923942:G:C	D408H	0.999
2:227893803:C:A	T109K	0.998
2:227893809:G:T	S111I	0.998
2:227893814:G:C	D113H	0.998
2:227893815:A:T	D113V	0.998
2:227893818:G:C	R114P	0.998
2:227893832:T:A	W119R	0.998
2:227893832:T:C	W119R	0.998

dbSNP variants (sampled 300 via entrez): RS1000009704 (2:227886551 A>G), RS1000049489 (2:227891342 T>C), RS1000161202 (2:227897832 A>G), RS1000250164 (2:227876189 T>G), RS1000290445 (2:227899655 T>A), RS1000291107 (2:227885501 TA>T), RS1000385387 (2:227911886 T>C), RS1000474768 (2:227923048 T>G), RS1000608873 (2:227895798 T>C), RS1000618091 (2:227897395 T>G), RS1000659237 (2:227899324 T>C), RS1000669673 (2:227902733 G>A), RS1000799145 (2:227915838 A>G), RS1000853612 (2:227874952 G>C,T), RS1000866592 (2:227914916 A>G)

Disease associations

OMIM: gene MIM:620279 | disease phenotypes: MIM:244400, MIM:620570

GenCC curated gene-disease

Disease	Classification	Inheritance
ciliary dyskinesia, primary, 52	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (2)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
primary ciliary dyskinesia	Limited	AR
visceral heterotaxy	Moderate	AR

Mondo (2): primary ciliary dyskinesia (MONDO:0016575), ciliary dyskinesia, primary, 52 (MONDO:0957922)

Orphanet (1): Primary ciliary dyskinesia (Orphanet:244)

HPO phenotypes

64 total (30 of 64 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000119	Abnormality of the genitourinary system
HP:0000238	Hydrocephalus
HP:0000365	Hearing impairment
HP:0000389	Chronic otitis media
HP:0000403	Recurrent otitis media
HP:0000405	Conductive hearing impairment
HP:0000510	Rod-cone dystrophy
HP:0000750	Delayed speech and language development
HP:0000924	Abnormality of the skeletal system
HP:0001217	Clubbing
HP:0001627	Abnormal heart morphology
HP:0001629	Ventricular septal defect
HP:0001631	Atrial septal defect
HP:0001642	Pulmonic stenosis
HP:0001643	Patent ductus arteriosus
HP:0001655	Patent foramen ovale
HP:0001669	Transposition of the great arteries
HP:0001696	Situs inversus totalis
HP:0001719	Double outlet right ventricle
HP:0001742	Nasal congestion
HP:0001746	Asplenia
HP:0001748	Polysplenia
HP:0002011	Morphological central nervous system abnormality
HP:0002110	Bronchiectasis
HP:0002119	Ventriculomegaly
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002783	Recurrent lower respiratory tract infections

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000094_2	Blood pressure	3.000000e-07
GCST005038_50	Allergic disease (asthma, hay fever or eczema)	3.000000e-12
GCST006409_13	Allergic rhinitis	2.000000e-10
GCST009798_81	Asthma	1.000000e-09
GCST90014325_37	Asthma	2.000000e-08

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007619	Kartagener Syndrome	C08.127.384.500; C08.200.531; C08.695.501; C09.150.531; C14.240.400.280.500; C14.280.400.280.500; C16.131.077.245.500.531; C16.131.240.400.280.500; C16.131.740.501; C16.131.810.250.500; C16.320.184.500.531; C16.320.480

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

33 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, decreases expression, increases expression, increases methylation	3
Air Pollutants	increases expression, increases abundance	2
Silicon Dioxide	decreases expression, increases expression	2
Smoke	increases expression, increases abundance	2
aristolochic acid I	decreases expression	1
afuresertib	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases methylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
butyraldehyde	increases expression	1
benzo(e)pyrene	increases methylation	1
pentanal	increases expression	1
abrine	increases expression	1
NSC 689534	affects binding, increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	decreases expression	1
Aldehydes	increases expression	1
Copper	affects binding, increases expression	1
Methapyrilene	increases methylation	1
Oxygen	decreases expression	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Triclosan	increases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	increases methylation	1
Asbestos, Crocidolite	increases expression	1

Clinical trials (associated diseases)

71 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT02871778	PHASE2	COMPLETED	Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia
NCT07318974	PHASE2	ACTIVE_NOT_RECRUITING	Melatonin Therapy for Improving ICSI Outcomes in Women With Diminished Ovarian Reserve
NCT05737485	PHASE1	COMPLETED	Study Evaluating the Safety and Tolerability of RCT1100 in Healthy and PCD Subjects
NCT06600425	PHASE1	COMPLETED	A Study to Assess the Safety, Tolerability, Ciliary Rescue, and Pharmacodynamics of RCT1100 in Adults With PCD
NCT06633757	PHASE1	COMPLETED	Study of Inhaled RCT1100 in Adults With PCD Caused by Pathogenic Mutations in the DNAI1 Gene to Measure Mucociliary Clearance
NCT04901715	EARLY_PHASE1	COMPLETED	Functional Studies of Novel Genes Mutated in Primary Ciliary Dyskinesia II: Genotype to Phenotype
NCT00005650	Not specified	COMPLETED	Genetic Study of Patients With Primary Ciliary Dyskinesia
NCT00323167	Not specified	COMPLETED	Rare Genetic Disorders of the Breathing Airways
NCT00368446	Not specified	COMPLETED	Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease
NCT00450918	Not specified	COMPLETED	Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents
NCT00608556	Not specified	COMPLETED	Dyskinesia, Heterotaxy and Congenital Heart Disease
NCT00686309	Not specified	UNKNOWN	Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)
NCT00722878	Not specified	COMPLETED	Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease
NCT00739817	Not specified	UNKNOWN	Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide
NCT00783887	Not specified	COMPLETED	Diagnosis of Primary Ciliary Dyskinesia
NCT00807482	Not specified	RECRUITING	Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease
NCT01070914	Not specified	UNKNOWN	Early Detection and Characterization of Primary Ciliary Dyskinesia
NCT01155115	Not specified	COMPLETED	Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia
NCT01246258	Not specified	COMPLETED	Otolith Function in Patients With Primary Ciliary Dyskinesia
NCT01929356	Not specified	RECRUITING	Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia
NCT02389049	Not specified	COMPLETED	Genetics of Primary Ciliary Dyskinesia
NCT02419365	Not specified	RECRUITING	International Primary Ciliary Dyskinesia (PCD) Registry
NCT02699177	Not specified	UNKNOWN	In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry
NCT02704455	Not specified	NOT_YET_RECRUITING	Registry Study on Primary Ciliary Dyskinesia in Chinese Children
NCT03271840	Not specified	COMPLETED	Registry for Primary Ciliary Dyskinesia
NCT03279965	Not specified	UNKNOWN	MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03320382	Not specified	UNKNOWN	Multiple Breath Washout, a Clinimetric Dataset
NCT03370029	Not specified	COMPLETED	Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia
NCT03494894	Not specified	COMPLETED	Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia
NCT03517865	Not specified	ACTIVE_NOT_RECRUITING	International Primary Ciliary Dyskinesia Cohort
NCT03606200	Not specified	RECRUITING	Swiss Primary Ciliary Dyskinesia Registry
NCT03704207	Not specified	RECRUITING	Utility of PCD Diagnostics to Improve Clinical Care
NCT03704896	Not specified	UNKNOWN	PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients
NCT03801395	Not specified	COMPLETED	PCD New Gene Discovery
NCT03809091	Not specified	UNKNOWN	WGS of Korean Idiopathic Bronchiectasis
NCT03832491	Not specified	COMPLETED	Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia
NCT04161313	Not specified	COMPLETED	Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With CF, PCD and Healthy Children
NCT04476433	Not specified	COMPLETED	Intervention in Chronic Pediatric Patients and Their Families.
NCT04489472	Not specified	UNKNOWN	The Effect of a Dietary Supplement Rich in Nitric Oxide in Patients Diagnosed With Primary Ciliary Dyskinesia.
NCT04602481	Not specified	RECRUITING	Living With Primary Ciliary Dyskinesia (Living With PCD)