DNAAF19

Summary

DNAAF19 (dynein axonemal assembly factor 19, HGNC:32700) is a protein-coding gene on chromosome 17q21.31, encoding Dynein axonemal assembly factor 19 (Q8IW40). Dynein-attachment factor required for cilia motility.

Enables protein homodimerization activity. Involved in axonemal dynein complex assembly; cilium movement; and determination of left/right symmetry. Predicted to be located in axoneme. Predicted to be part of outer dynein arm. Implicated in primary ciliary dyskinesia 17.

Source: NCBI Gene 388389 — RefSeq curated summary.

At a glance

• Gene–disease (curated): primary ciliary dyskinesia 17 (Definitive, ClinGen) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 200 total — 13 pathogenic, 8 likely-pathogenic
• Phenotypes (HPO): 54
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_213607

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32700
Approved symbol	DNAAF19
Name	dynein axonemal assembly factor 19
Location	17q21.31
Locus type	gene with protein product
Status	Approved
Aliases	FLJ13094, FLJ34211, PR46b, CILD17
Ensembl gene	ENSG00000167131
Ensembl biotype	protein_coding
OMIM	614677
Entrez	388389

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 6 protein_coding

ENST00000357776, ENST00000410006, ENST00000410027, ENST00000417826, ENST00000577339, ENST00000886262

RefSeq mRNA: 6 — MANE Select: NM_213607 NM_001258395, NM_001258396, NM_001258397, NM_001258398, NM_001258399, NM_213607

CCDS: CCDS11490, CCDS58554

Canonical transcript exons

ENST00000417826 — 4 exons

Exon	Start	End
ENSE00003576787	44902365	44905390
ENSE00003586306	44899729	44899859
ENSE00003619668	44901520	44901652
ENSE00003626906	44900990	44901141

Expression profiles

Bgee: expression breadth ubiquitous, 130 present calls, max score 84.06.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0250 / max 63.6030, expressed in 608 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
161197	1.0250	608

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	84.06	gold quality
left testis	UBERON:0004533	82.87	gold quality
testis	UBERON:0000473	82.60	gold quality
right testis	UBERON:0004534	82.26	gold quality
right uterine tube	UBERON:0001302	80.14	gold quality
sural nerve	UBERON:0015488	69.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	69.77	gold quality
ventricular zone	UBERON:0003053	68.63	gold quality
islet of Langerhans	UBERON:0000006	65.55	gold quality
prefrontal cortex	UBERON:0000451	65.02	gold quality
stromal cell of endometrium	CL:0002255	64.25	gold quality
fallopian tube	UBERON:0003889	63.64	gold quality
smooth muscle tissue	UBERON:0001135	63.27	gold quality
monocyte	CL:0000576	62.53	gold quality
right adrenal gland cortex	UBERON:0035827	62.20	gold quality
leukocyte	CL:0000738	60.55	gold quality
left adrenal gland	UBERON:0001234	60.52	gold quality
right adrenal gland	UBERON:0001233	60.42	gold quality
adult mammalian kidney	UBERON:0000082	60.03	gold quality
left adrenal gland cortex	UBERON:0035825	59.24	gold quality
adrenal gland	UBERON:0002369	59.13	gold quality
ganglionic eminence	UBERON:0004023	59.06	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	58.42	gold quality
frontal cortex	UBERON:0001870	58.29	gold quality
gall bladder	UBERON:0002110	58.05	gold quality
hypothalamus	UBERON:0001898	56.84	gold quality
adrenal tissue	UBERON:0018303	56.49	gold quality
kidney	UBERON:0002113	55.68	gold quality
placenta	UBERON:0001987	55.35	gold quality
cerebral cortex	UBERON:0000956	54.30	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

40 targeting DNAAF19, 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-518E-5P	100.00	67.66	954
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-6793-5P	99.97	65.95	758
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-4446-5P	99.72	69.19	2544
HSA-MIR-4755-5P	99.71	70.34	2716
HSA-MIR-5006-3P	99.71	70.26	2728
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-6861-3P	99.60	68.46	444
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-543	99.52	69.03	2595
HSA-MIR-4708-3P	99.51	67.99	870
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-421	98.90	67.04	1883

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 6)

• These results identify Ccdc103 as a dynein arm attachment factor that causes primary ciliary dyskinesia when mutated. (PMID:22581229)
• A variable and complex phenotype caused by the co-inheritance of a single gene mutation in CCDC103 and a microduplication at 17q12, both on chromosome 17. (PMID:26123568)
• The CCDC103 p.His154Pro mutation is more prevalent than previously thought in the South Asian community in the UK and causes primary ciliary dyskinesia that can be difficult to diagnose using pathology-based clinical tests. (PMID:28790179)
• Pathogenic variants in CCDC103 are associated with primary ciliary dyskinesia. (PMID:31273583)
• The outer dynein arm assembly factor CCDC103 forms molecular scaffolds through multiple self-interaction sites. (PMID:31858719)
• A recurrent homozygous missense mutation in CCDC103 causes asthenoteratozoospermia due to disorganized dynein arms. (PMID:35259782)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dnaaf19	ENSDARG00000053455
mus_musculus	Ccdc103	ENSMUSG00000020930
rattus_norvegicus	Ccdc103	ENSRNOG00000002905

Protein

Protein identifiers

Dynein axonemal assembly factor 19 — Q8IW40 (reviewed: Q8IW40)

Alternative names: Coiled-coil domain-containing protein 103

All UniProt accessions (3): Q8IW40, F8W6J8, J3KSE5

UniProt curated annotations — full annotation on UniProt →

Function. Dynein-attachment factor required for cilia motility.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm. Cell projection. Cilium. Flagellum.

Disease relevance. Ciliary dyskinesia, primary, 17 (CILD17) [MIM:614679] 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the DNAAF19/PR46b family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IW40-1	1	yes
Q8IW40-2	2

RefSeq proteins (6): NP_001245324, NP_001245325, NP_001245326, NP_001245327, NP_001245328, NP_998772* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR025986	RPAP3-like_C	Domain
IPR031733	Dynein_attach_N	Domain
IPR042422	CC103	Family

Pfam: PF13877, PF15867

UniProt features (6 total): splice variant 2, chain 1, coiled-coil region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IW40-F1	80.42	0.53

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 213 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EPITHELIUM_DEVELOPMENT, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_SPECIFICATION_OF_SYMMETRY, GOBP_INNER_DYNEIN_ARM_ASSEMBLY, GOBP_DIGESTIVE_SYSTEM_DEVELOPMENT, GOBP_AXONEMAL_DYNEIN_COMPLEX_ASSEMBLY, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_EMBRYONIC_HEART_TUBE_DEVELOPMENT, GOBP_EMBRYONIC_ORGAN_MORPHOGENESIS, GOBP_HEART_MORPHOGENESIS, GOBP_CILIUM_ORGANIZATION, GOBP_CILIUM_MOVEMENT, GOBP_OUTER_DYNEIN_ARM_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY

GO Biological Process (10): heart looping (GO:0001947), cilium movement (GO:0003341), epithelial cilium movement involved in extracellular fluid movement (GO:0003351), determination of left/right symmetry (GO:0007368), outer dynein arm assembly (GO:0036158), inner dynein arm assembly (GO:0036159), epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287), axonemal dynein complex assembly (GO:0070286), determination of digestive tract left/right asymmetry (GO:0071907), cell projection organization (GO:0030030)

GO Molecular Function (2): protein homodimerization activity (GO:0042803), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), cytoplasm (GO:0005737), axoneme (GO:0005930), motile cilium (GO:0031514), outer dynein arm (GO:0036157), cilium (GO:0005929), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
axonemal dynein complex assembly	2
determination of left/right symmetry	2
embryonic heart tube morphogenesis	1
determination of heart left/right asymmetry	1
microtubule-based movement	1
cilium movement	1
extracellular transport	1
microtubule-based transport	1
determination of bilateral symmetry	1
left/right pattern formation	1
epithelial cilium movement involved in extracellular fluid movement	1
axoneme assembly	1
protein-containing complex assembly	1
digestive tract development	1
cellular component organization	1
identical protein binding	1
protein dimerization activity	1
binding	1
intracellular anatomical structure	1
cytoskeleton	1
microtubule	1
ciliary plasm	1
cilium	1
axonemal dynein complex	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

634 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DNAAF19	DNAAF11	Q86X45	832
DNAAF19	DNAAF3	Q8N9W5	827
DNAAF19	DNAI2	Q9GZS0	822
DNAAF19	CCDC39	Q9UFE4	819
DNAAF19	CCDC40	Q4G0X9	813
DNAAF19	DNAAF1	Q8NEP3	812
DNAAF19	RSPH4A	Q5TD94	807
DNAAF19	DNAAF5	Q86Y56	806
DNAAF19	ZMYND10	O75800	798
DNAAF19	RSPH1	Q8WYR4	786
DNAAF19	ODAD1	Q96M63	785
DNAAF19	SPAG1	Q07617	780
DNAAF19	DNAI1	Q9UI46	780
DNAAF19	DNAAF4	Q8WXU2	768
DNAAF19	RSPH9	Q9H1X1	765

IntAct

77 interactions, top by confidence:

A	B	Type	Score
VAC14	DNAAF19	psi-mi:“MI:0915”(physical association)	0.830
DNAAF19	VAC14	psi-mi:“MI:0915”(physical association)	0.830
DNAAF19	HGS	psi-mi:“MI:0915”(physical association)	0.670
HGS	DNAAF19	psi-mi:“MI:0915”(physical association)	0.670
GRIPAP1	DNAAF19	psi-mi:“MI:0915”(physical association)	0.670
MEOX2	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
R3HCC1L	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	RUVBL2	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
RUVBL2	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	R3HCC1L	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	PICK1	psi-mi:“MI:0915”(physical association)	0.560
MEOX1	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
PRKAR1B	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
PAX6	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
PKN1	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
SUOX	DNAAF19	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	CENPN	psi-mi:“MI:0915”(physical association)	0.560
DNAAF19	USHBP1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (53): CCDC103 (Two-hybrid), CCDC103 (Two-hybrid), CCDC103 (Two-hybrid), CCDC103 (Two-hybrid), CCDC103 (Two-hybrid), S100P (Affinity Capture-MS), GDPD3 (Affinity Capture-MS), KLK10 (Affinity Capture-MS), SDR9C7 (Affinity Capture-MS), ACPP (Affinity Capture-MS), CAPNS2 (Affinity Capture-MS), CTSV (Affinity Capture-MS), ALAD (Affinity Capture-MS), RNASE7 (Affinity Capture-MS), CTSH (Affinity Capture-MS)

ESM2 similar proteins: A1L3C1, A2RRU4, A6QM06, A6QNS9, F1LQY6, O94827, P29372, P29590, P97260, Q01113, Q02833, Q04841, Q12770, Q13505, Q29RM4, Q32KT5, Q32L49, Q3UGX3, Q4R5F9, Q5BK01, Q5I0I4, Q5MNU5, Q5SQH8, Q66T02, Q69Z89, Q6GQT6, Q6RFZ7, Q6UXT9, Q6ZN54, Q70EL4, Q7Z6G3, Q86WI3, Q86YD3, Q8IW40, Q8N1F8, Q8N531, Q8N9H8, Q8TCX5, Q91ZP9, Q920N2

Diamond homologs: Q28IV3, Q5RJU3, Q6DGB6, Q6NU95, Q8IW40, Q9D9P2, Q94EY1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	13
Likely pathogenic	8
Uncertain significance	73
Likely benign	76
Benign	8

Top pathogenic / likely-pathogenic (21)

Variant ID	HGVS	Classification
1434000	NM_213607.3(DNAAF19):c.328C>T (p.Arg110Ter)	Pathogenic
2706632	NM_213607.3(DNAAF19):c.276+1G>C	Pathogenic
2717591	NM_213607.3(DNAAF19):c.327G>A (p.Trp109Ter)	Pathogenic
2723287	NM_213607.3(DNAAF19):c.406C>T (p.Gln136Ter)	Pathogenic
2725381	NM_213607.3(DNAAF19):c.359dup (p.Tyr120Ter)	Pathogenic
2751584	NM_213607.3(DNAAF19):c.276+1G>A	Pathogenic
2777293	NM_213607.3(DNAAF19):c.144-1G>T	Pathogenic
2981302	NM_213607.3(DNAAF19):c.436G>T (p.Glu146Ter)	Pathogenic
31697	NM_213607.3(DNAAF19):c.383dup (p.Pro129fs)	Pathogenic
411696	NM_213607.3(DNAAF19):c.115C>T (p.Gln39Ter)	Pathogenic
446328	GRCh37/hg19 17q21.31(chr17:42969980-42993118)x1	Pathogenic
4786620	NM_213607.3(DNAAF19):c.37G>T (p.Glu13Ter)	Pathogenic
859125	NM_213607.3(DNAAF19):c.276+1_277-298del	Pathogenic
3233633	NM_213607.3(DNAAF19):c.276_276+13del	Likely pathogenic
3582146	NM_213607.3(DNAAF19):c.78C>A (p.Tyr26Ter)	Likely pathogenic
3582148	NM_213607.3(DNAAF19):c.197del (p.Gly66fs)	Likely pathogenic
3582149	NM_213607.3(DNAAF19):c.218G>A (p.Trp73Ter)	Likely pathogenic
3582150	NM_213607.3(DNAAF19):c.410_413del (p.Thr137fs)	Likely pathogenic
3582152	NM_213607.3(DNAAF19):c.600del (p.Met201fs)	Likely pathogenic
455029	NM_213607.3(DNAAF19):c.568_569dup (p.Ser190fs)	Likely pathogenic
667366	NM_213607.3(DNAAF19):c.223_226dup (p.His76fs)	Likely pathogenic

SpliceAI

841 predictions. Top by Δscore:

Variant	Effect	Δscore
17:44899839:GC:G	donor_gain	1.0000
17:44900979:T:TA	acceptor_gain	1.0000
17:44900988:A:AG	acceptor_gain	1.0000
17:44900988:AG:A	acceptor_gain	1.0000
17:44900989:G:GA	acceptor_gain	1.0000
17:44900989:GG:G	acceptor_gain	1.0000
17:44900989:GGC:G	acceptor_gain	1.0000
17:44900989:GGCA:G	acceptor_gain	1.0000
17:44900989:GGCAC:G	acceptor_gain	1.0000
17:44901070:G:GT	donor_gain	1.0000
17:44901070:GAA:G	donor_gain	1.0000
17:44901073:G:GG	donor_gain	1.0000
17:44901082:G:GT	donor_gain	1.0000
17:44901098:T:G	donor_gain	1.0000
17:44901104:G:GT	donor_gain	1.0000
17:44901120:T:TA	donor_gain	1.0000
17:44901121:G:GA	donor_gain	1.0000
17:44901137:TTC:T	donor_gain	1.0000
17:44901140:AG:A	donor_loss	1.0000
17:44901141:G:GC	donor_loss	1.0000
17:44901141:GGT:G	donor_loss	1.0000
17:44901143:T:A	donor_loss	1.0000
17:44901516:ACAGG:A	acceptor_gain	1.0000
17:44901517:CAGGG:C	acceptor_loss	1.0000
17:44901518:A:AG	acceptor_gain	1.0000
17:44901518:A:G	acceptor_loss	1.0000
17:44901518:AG:A	acceptor_gain	1.0000
17:44901518:AGG:A	acceptor_gain	1.0000
17:44901518:AGGG:A	acceptor_gain	1.0000
17:44901519:G:GT	acceptor_gain	1.0000

AlphaMissense

1557 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:44901137:T:C	F47L	0.991
17:44901139:C:A	F47L	0.991
17:44901139:C:G	F47L	0.991
17:44901097:G:C	K33N	0.978
17:44901097:G:T	K33N	0.978
17:44901138:T:C	F47S	0.977
17:44902413:T:A	W109R	0.974
17:44902413:T:C	W109R	0.974
17:44901528:T:A	V51D	0.971
17:44902614:T:C	F176L	0.964
17:44902616:C:A	F176L	0.964
17:44902616:C:G	F176L	0.964
17:44902492:T:C	F135S	0.963
17:44901138:T:G	F47C	0.962
17:44902401:T:C	F105L	0.957
17:44902403:C:A	F105L	0.957
17:44902403:C:G	F105L	0.957
17:44902491:T:C	F135L	0.957
17:44902493:C:A	F135L	0.957
17:44902493:C:G	F135L	0.957
17:44902415:G:C	W109C	0.951
17:44902415:G:T	W109C	0.951
17:44902615:T:C	F176S	0.951
17:44902402:T:C	F105S	0.949
17:44901092:G:C	A32P	0.948
17:44901543:T:C	L56P	0.945
17:44901104:G:C	A36P	0.942
17:44901045:T:C	L16P	0.941
17:44902509:T:C	F141L	0.938
17:44902511:T:A	F141L	0.938

dbSNP variants (sampled 300 via entrez): RS1000196134 (17:44903509 C>T), RS1001057991 (17:44899926 A>C,T), RS1001350705 (17:44903376 C>T), RS1001683402 (17:44899665 TG>T), RS1001698702 (17:44902924 T>C), RS1001848382 (17:44905651 T>C), RS1002614919 (17:44900029 A>C), RS1002967954 (17:44904255 C>G,T), RS1003045339 (17:44903327 G>C), RS1003116320 (17:44898107 T>C), RS1003426284 (17:44898821 T>A,C), RS1003430731 (17:44904606 T>C), RS1003841868 (17:44898006 A>C), RS1003904288 (17:44905635 G>A), RS1003922916 (17:44904157 T>C)

Disease associations

OMIM: gene MIM:614677 | disease phenotypes: MIM:244400, MIM:614679, MIM:619445, MIM:612936

GenCC curated gene-disease

Disease	Classification	Inheritance
primary ciliary dyskinesia 17	Definitive	Autosomal recessive
primary ciliary dyskinesia	Supportive	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
primary ciliary dyskinesia 17	Definitive	AR

Mondo (6): primary ciliary dyskinesia (MONDO:0016575), primary ciliary dyskinesia 17 (MONDO:0013854), diarrhea 12, with microvillus atrophy (MONDO:0030335), infertility disorder (MONDO:0005047), hereditary spastic paraplegia 50 (MONDO:0013048), situs inversus (MONDO:0010029)

Orphanet (3): Primary ciliary dyskinesia (Orphanet:244), Severe intellectual disability and progressive spastic paraplegia (Orphanet:280763), Situs inversus totalis (Orphanet:101063)

HPO phenotypes

54 total (30 of 54 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:0001651	Dextrocardia
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:0002205	Recurrent respiratory infections
HP:0002257	Chronic rhinitis
HP:0002566	Intestinal malrotation
HP:0002643	Neonatal respiratory distress
HP:0002878	Respiratory failure
HP:0003251	Male infertility
HP:0003577	Congenital onset
HP:0005301	Persistent left superior vena cava

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004412_12	Craniofacial microsomia	9.000000e-06
GCST008916_39	Asthma	8.000000e-12

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
D002925	Ciliary Motility Disorders	C08.200; C09.150; C16.131.077.245.500; C16.320.184.500
D007246	Infertility	C12.100.750
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
D012857	Situs Inversus	C16.131.810
C567858	Spastic Paraplegia-50, Autosomal Recessive (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

17 total (human), top 17 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases expression	1
propionaldehyde	increases expression	1
bisphenol A	affects cotreatment, increases expression	1
beta-lapachone	decreases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
ferrous chloride	decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
tebuconazole	decreases expression	1
jinfukang	affects cotreatment, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	decreases expression	1
Indomethacin	affects cotreatment, increases expression	1
Urethane	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Antirheumatic Agents	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01388907	PHASE4	COMPLETED	Efficacity Assessment of PREVADH® in Adhesion Prevention in Gynaecologic Surgery
NCT01430650	PHASE4	COMPLETED	Endometrial Priming for Embryo Transfer
NCT02607319	PHASE4	COMPLETED	Low Molecular Weight Heparin to Improve Pregnancy Outcome in Patients With Recurrent Implantation Failure
NCT03169166	PHASE4	COMPLETED	The Use of GnRH Agonist Trigger for Final Follicle Maturation in Women Undergoing Assisted Reproductive Technologies
NCT03177122	PHASE4	UNKNOWN	Myo-Inositol- Based Co-treatment in Women With PCOS Undergoing Assisted Reproductive Technology
NCT03477929	PHASE4	UNKNOWN	Cetrorelix and Ganirelix Flexible Protocol for (IVF)
NCT03619707	PHASE4	COMPLETED	Oral Versus Vaginal Progesterone in the Luteal Support in Cryo-warmed Embryo Transfer Cycles
NCT03846544	PHASE4	COMPLETED	Double Pick up in Poor Prognosis Women
NCT05725512	PHASE4	RECRUITING	Prednisolone Administration in Patients With Unexplained REcurrent MIscarriages
NCT06195163	PHASE4	NOT_YET_RECRUITING	TRAP Study: Testosterone for Androgen Receptor Polymorphism
NCT06763926	PHASE4	NOT_YET_RECRUITING	Intranasal Nafarelin For Triggering Oocyte Maturation
NCT00749853	PHASE3	SUSPENDED	Efficacy of Ovarian Stimulation Based on FSHR Genotype Status
NCT03238092	PHASE3	UNKNOWN	Comparison Between Testosterone and Estradiol Over the Homogenization of Follicular Cohort
NCT03803228	PHASE3	COMPLETED	Dual Ovarian Stimulation (DUOSTIM) for Poor Ovarian Responders
NCT06692712	PHASE3	RECRUITING	Phase 3 Efficacy Study With Concurrent Control of IT MELPIDA in SPG50.Concurrent Controls.
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
NCT04701034	PHASE2	COMPLETED	Intravenous Immunoglobulin and Prednisolone for RPL After ART.
NCT04850261	PHASE2	WITHDRAWN	Injection Free IVF
NCT06997900	PHASE2	RECRUITING	Menopur And Rekovelle Combination Study Version 2.0
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