Ciliary Dyskinesia, Primary, 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Ciliary Dyskinesia, Primary, 2

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 2:

Name: Ciliary Dyskinesia, Primary, 2 ⁵⁷ ⁷² ²⁹ ¹³ ⁶ ⁷⁰

Cild2 ⁵⁷ ¹² ⁷²

Primary Ciliary Dyskinesia 2 with or Without Situs Inversus ¹² ⁷²

Primary Ciliary Dyskinesia 2 ¹² ¹⁵

Ciliary Dyskinesia, Primary, 2, with or Without Situs Inversus ⁵⁷

Dyskinesia, Ciliary, Primary, 2 ³⁹

Immotile Cilia Syndrome 2 ⁷²

Ics2 ⁷²

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
onset at birth
approximately 50% of patients have situs inversus

HPO:

³¹

ciliary dyskinesia, primary, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Respiratory diseases Reproductive diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the respiratory system

Other congenital malformations of respiratory system

Other specified congenital malformations of respiratory system

External Ids:

Disease Ontology ¹² DOID:0110626

OMIM® ⁵⁷ 606763

OMIM Phenotypic Series ⁵⁷ PS244400

MeSH ⁴⁴ D002925 D007619

ICD10 ³² Q34.8

MedGen ⁴¹ C1847554

UMLS ⁷⁰ C1847554

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Summaries for Ciliary Dyskinesia, Primary, 2

UniProtKB/Swiss-Prot : ⁷² Ciliary dyskinesia, primary, 2: 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.

MalaCards based summary : Ciliary Dyskinesia, Primary, 2, also known as cild2, is related to pulmonary subvalvular stenosis and osteogenesis imperfecta, type xi, and has symptoms including respiratory distress An important gene associated with Ciliary Dyskinesia, Primary, 2 is DNAAF3 (Dynein Axonemal Assembly Factor 3), and among its related pathways/superpathways is Pathways of neurodegeneration - multiple diseases. Related phenotypes are hearing impairment and recurrent respiratory infections

Disease Ontology : ¹² A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has material basis in homozygous mutation in the DNAAF3 gene on chromosome 19q13.

More information from OMIM: 606763 PS244400

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Related Diseases for Ciliary Dyskinesia, Primary, 2

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1	Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3	Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5	Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7	Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9	Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11	Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13	Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15	Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17	Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19	Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21	Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23	Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25	Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27	Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29	Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32	Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34	Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37	Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Primary, 39	Ciliary Dyskinesia, Primary, 40
Ciliary Dyskinesia, Primary, 41	Ciliary Dyskinesia, Primary, 42
Ciliary Dyskinesia, Primary, 43	Ciliary Dyskinesia, Primary, 44
Ciliary Dyskinesia, Primary, 45	Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Ciliary Dyskinesia, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 26)

#	Related Disease	Score	Top Affiliating Genes
1	pulmonary subvalvular stenosis	10.2	DNAAF3 DNAAF1
2	osteogenesis imperfecta, type xi	10.2	DNALI1 DNAH9
3	ethmoid sinusitis	10.1	DNALI1 DNAI1
4	ciliary dyskinesia, primary, 13	10.1	DNAAF2 DNAAF1
5	osteogenesis imperfecta, type xiv	10.0	DNAH9 DNAH5
6	ciliary dyskinesia, primary, 10	10.0	NME8 DNAI2 DNAAF2
7	restrictive cardiomyopathy	10.0	TNNI3 DNAH8 DNAAF3
8	ciliary dyskinesia, primary, 8	9.8	DNAI1 DNAH5 DNAH11
9	ciliary dyskinesia, primary, 4	9.8	DNAI1 DNAH5 DNAH11
10	dextrocardia	9.8	DNAI1 DNAH5 DNAH11
11	dextro-looped transposition of the great arteries	9.7	DNAI1 DNAH5 DNAH11 DAW1
12	ciliary dyskinesia, primary, 9	9.7	NME8 DYNC1I2 DNAI2 DNAAF2
13	middle ear disease	9.7	DNAI2 DNAI1 DNAH5 DNAH11
14	inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 1	9.6	DNAAF2 CYP1A1
15	right atrial isomerism	9.6	DNALI1 DNAI1 DNAH9 DNAH5 DNAH11
16	paranasal sinus disease	9.5	DNAI2 DNAI1 DNAH5 DNAH11 DNAAF2
17	joubert syndrome 1	9.5	DNAI1 DNAH9 DNAH5 DNAH11 DNAAF1
18	bronchiectasis	9.4	DNAI2 DNAI1 DNAH5 DNAH11 DNAAF2 DNAAF1
19	infertility	9.3	DNAI1 DNAH5 DNAH17 DNAH11 CYP1A1
20	situs inversus	9.0	NME8 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
21	male infertility	8.9	DNALI1 DNAI1 DNAH9 DNAH8 DNAH5 DNAH17
22	retinitis pigmentosa	8.8	NME8 HSP90AA1 DNAI2 DNAI1 DNAH8 DNAH5
23	visceral heterotaxy	8.7	NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH5
24	ciliary dyskinesia, primary, 1	8.6	NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
25	kartagener syndrome	8.6	NME8 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
26	primary ciliary dyskinesia	8.0	TNNI3 NME8 DYNC1I2 DNALI1 DNAI2 DNAI1

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 2:

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Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

³¹ (show all 12)

#	Description	HPO Frequency	HPO Source Accession
1	hearing impairment ³¹	occasional (7.5%)	HP:0000365
2	recurrent respiratory infections ³¹		HP:0002205
3	sinusitis ³¹		HP:0000246
4	otitis media ³¹		HP:0000388
5	infertility ³¹		HP:0000789
6	nasal polyposis ³¹		HP:0100582
7	situs inversus totalis ³¹		HP:0001696
8	respiratory distress ³¹		HP:0002098
9	bronchiectasis ³¹		HP:0002110
10	ciliary dyskinesia ³¹		HP:0012265
11	immotile cilia ³¹		HP:0012263
12	absent inner and outer dynein arms ³¹		HP:0012259

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Respiratory:
recurrent respiratory infections
respiratory distress

Head And Neck Ears:
otitis media
hearing loss (in some patients)

Cardiovascular Heart:
dextrocardia

Laboratory Abnormalities:
immotile cilia

Respiratory Nasopharynx:
sinusitis
nasal polyps

Genitourinary Internal Genitalia Male:
infertility
immotile sperm

Respiratory Lung:
bronchiectasis

Abdomen:
situs inversus

Clinical features from OMIM®:

606763 (Updated 05-Apr-2021)

UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:

respiratory distress

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 2:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	9.65	CYP27B1 DNAAF2 DNAAF3 DNAH11 DNAH5 DNAH8
2	respiratory system	MP:0005388	9.17	DNAAF2 DNAAF3 DNAH11 DNAH5 DNAI1 DNAI2

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Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 2

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 2

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Genetic Tests for Ciliary Dyskinesia, Primary, 2

Genetic tests related to Ciliary Dyskinesia, Primary, 2:

#	Genetic test	Affiliating Genes
1	Ciliary Dyskinesia, Primary, 2 ²⁹	DNAAF3

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Anatomical Context for Ciliary Dyskinesia, Primary, 2

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Publications for Ciliary Dyskinesia, Primary, 2

Articles related to Ciliary Dyskinesia, Primary, 2:

(show all 18)

#	Title	Authors	PMID	Year
1	Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. ⁵⁷ ⁶	Mitchison HM...Mitchell DR	22387996	2012
2	A locus for primary ciliary dyskinesia maps to chromosome 19q. ⁶ ⁵⁷	Meeks M...Chung E	10745040	2000
3	Low Temperature Enhances Plant Immunity via Salicylic Acid Pathway Genes That Are Repressed by Ethylene. ⁶¹	Li Z...Hua J	31694900	2020
4	A 10-year Isfahan cohort on cardiovascular disease as a master plan for a multi-generation non-communicable disease longitudinal study: methodology and challenges. ⁶¹	Sarrafzadegan N...Mansourian M	30385824	2019
5	Cold stress activates disease resistance in Arabidopsis thaliana through a salicylic acid dependent pathway. ⁶¹	Wu Z...Yang W	31087367	2019
6	Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. ⁶¹	Hajialilo E...Khodavaisy S	30917916	2019
7	Postmastectomy radiotherapy using three different techniques: a retrospective evaluation of the incidental dose distribution in the internal mammary nodes. ⁶¹	Wang W...Li J	30774438	2019
8	Assessment methods and resource requirements for milestone reporting by an emergency medicine clinical competency committee. ⁶¹	Goyal N...Vallee P	30376785	2018
9	Overexpression of VpEIFP1, a novel F-box/Kelch-repeat protein from wild Chinese Vitis pseudoreticulata, confers higher tolerance to powdery mildew by inducing thioredoxin z proteolysis. ⁶¹	Wang J...Wang Y	28818370	2017
10	The Development of Indicator Cotton Swabs for the Detection of pH in Wounds. ⁶¹	Schaude C...Mohr GJ	28604631	2017
11	The biochemical properties of the two Arabidopsis thaliana isochorismate synthases. ⁶¹	Macaulay KM...Smith AG	28356402	2017
12	Response of phytohormones and correlation of SAR signal pathway genes to the different resistance levels of grapevine against Plasmopara viticola infection. ⁶¹	Liu SL...Zhang YL	27244101	2016
13	Transcriptomic analysis of Camellia ptilophylla and identification of genes associated with flavonoid and caffeine biosynthesis. ⁶¹	Li MM...Hang YY	26782523	2015
14	Comparison of an automated ELFA and two different real-time PCR techniques for Salmonella detection in poultry samples. ⁶¹	Rohonczy K...Tabajdi-Pinter V	25261941	2014
15	Regulation of RNA-dependent RNA polymerase 1 and isochorismate synthase gene expression in Arabidopsis. ⁶¹	Hunter LJ...Carr JP	23799112	2013
16	Characterization and biological function of the ISOCHORISMATE SYNTHASE2 gene of Arabidopsis. ⁶¹	Garcion C...Metraux JP	18451262	2008
17	Level of impaired control predicts outcome of moderation-oriented treatment for alcohol problems. ⁶¹	Heather N...Dawe S	15955010	2005
18	[Microproteinuria and circadian rhythm of blood pressure in patients with arterial hypertension]. ⁶¹	Marczewski K...Klimek K	8677191	1996

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Genes for Ciliary Dyskinesia, Primary, 2

Genes related to Ciliary Dyskinesia, Primary, 2 (1 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DNAAF3	Dynein Axonemal Assembly Factor 3	Protein Coding	1335.66	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Gene name Variants (show sections)	10745040 22387996
2	TNNI3	Troponin I3, Cardiac Type	Protein Coding	8.09	GeneCards inferred via : Variants (show sections)
3	DAW1	Dynein Assembly Factor With WD Repeats 1	Protein Coding	6.56	DISEASES inferred ¹⁵
4	DNAH17	Dynein Axonemal Heavy Chain 17	Protein Coding	6.18	DISEASES inferred ¹⁵
5	DNAH8	Dynein Axonemal Heavy Chain 8	Protein Coding	6.04	DISEASES inferred ¹⁵
6	DNALI1	Dynein Axonemal Light Intermediate Chain 1	Protein Coding	5.96	DISEASES inferred ¹⁵
7	DNAAF1	Dynein Axonemal Assembly Factor 1	Protein Coding	5.75	DISEASES inferred ¹⁵
8	DNAH9	Dynein Axonemal Heavy Chain 9	Protein Coding	5.7	DISEASES inferred ¹⁵
9	DNAAF2	Dynein Axonemal Assembly Factor 2	Protein Coding	5.7	DISEASES inferred ¹⁵
10	DNAI2	Dynein Axonemal Intermediate Chain 2	Protein Coding	5.66	DISEASES inferred ¹⁵
11	NME8	NME/NM23 Family Member 8	Protein Coding	5.56	DISEASES inferred ¹⁵
12	DNAI1	Dynein Axonemal Intermediate Chain 1	Protein Coding	5.36	DISEASES inferred ¹⁵
13	DNAH11	Dynein Axonemal Heavy Chain 11	Protein Coding	5.33	DISEASES inferred ¹⁵
14	DNAH5	Dynein Axonemal Heavy Chain 5	Protein Coding	5.07	DISEASES inferred ¹⁵
15	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	4.98	DISEASES inferred ¹⁵
16	CYP27B1	Cytochrome P450 Family 27 Subfamily B Member 1	Protein Coding	4.24	DISEASES inferred ¹⁵
17	CYP1A1	Cytochrome P450 Family 1 Subfamily A Member 1	Protein Coding	3.9	DISEASES inferred ¹⁵
18	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	3.4	DISEASES inferred ¹⁵

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Variations for Ciliary Dyskinesia, Primary, 2

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 2:

⁶ (show all 17)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	DNAAF3	NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)	Duplication	Pathogenic	495054	rs1349668884	GRCh37: 19:55670784-55670785 GRCh38: 19:55159416-55159417
2	DNAAF3	NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)	SNV	Pathogenic	31532	rs387907151	GRCh37: 19:55677272-55677272 GRCh38: 19:55165904-55165904
3	DNAAF3	NM_001256715.2(DNAAF3):c.350G>A (p.Trp117Ter)	SNV	Pathogenic	572342	rs770403610	GRCh37: 19:55673631-55673631 GRCh38: 19:55162263-55162263
4	DNAAF3	NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)	SNV	Pathogenic	31533	rs387907152	GRCh37: 19:55676795-55676795 GRCh38: 19:55165427-55165427
5	DNAAF3	NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)	Duplication	Pathogenic	31534	rs397515395	GRCh37: 19:55673052-55673053 GRCh38: 19:55161684-55161685
6	DNAAF3	NM_001256715.2(DNAAF3):c.922G>T (p.Glu308Ter)	SNV	Pathogenic	1031256		GRCh37: 19:55672134-55672134 GRCh38: 19:55160766-55160766
7	DNAAF3	NM_001256715.2(DNAAF3):c.1049-1G>A	SNV	Pathogenic	330211	rs199590885	GRCh37: 19:55671382-55671382 GRCh38: 19:55160014-55160014
8	DNAAF3	NM_001256715.2(DNAAF3):c.1164-1G>C	SNV	Pathogenic	1033796		GRCh37: 19:55670976-55670976 GRCh38: 19:55159608-55159608
9	DNAAF3	NM_001256715.2(DNAAF3):c.481-1G>A	SNV	Pathogenic	1033797		GRCh37: 19:55673194-55673194 GRCh38: 19:55161826-55161826
10	DNAAF3	NM_001256715.2(DNAAF3):c.789+1G>C	SNV	Pathogenic	410289	rs770143722	GRCh37: 19:55672660-55672660 GRCh38: 19:55161292-55161292
11	DNAAF3	NM_001256715.2(DNAAF3):c.1589C>T (p.Pro530Leu)	SNV	Uncertain significance	330207	rs200673226	GRCh37: 19:55670467-55670467 GRCh38: 19:55159099-55159099
12	DNAAF3	NM_001256715.2(DNAAF3):c.1585del (p.Ala529fs)	Deletion	Uncertain significance	632321	rs1371933770	GRCh37: 19:55670471-55670471 GRCh38: 19:55159103-55159103
13	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.790-14C>T	SNV	Benign	257695	rs7260371	GRCh37: 19:55672569-55672569 GRCh38: 19:55161201-55161201
14	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.1239-8A>G	SNV	Benign	257684	rs28377509	GRCh37: 19:55670825-55670825 GRCh38: 19:55159457-55159457
15	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=)	SNV	Benign	257680	rs891187	GRCh37: 19:55671374-55671374 GRCh38: 19:55160006-55160006
16	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=)	SNV	Benign	257694	rs7260320	GRCh37: 19:55672784-55672784 GRCh38: 19:55161416-55161416
17	TNNI3 , DNAAF3	NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly)	SNV	Benign	257676	rs2365725	GRCh37: 19:55672470-55672470 GRCh38: 19:55161102-55161102

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 2:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	DNAAF3	p.Leu61Pro	VAR_067300	rs387907151

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Expression for Ciliary Dyskinesia, Primary, 2

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 2.

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Pathways for Ciliary Dyskinesia, Primary, 2

Pathways related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Pathways of neurodegeneration - multiple diseases ³⁶ Show member pathways Alzheimer disease ³⁶ Amyotrophic lateral sclerosis ³⁶ Huntington disease ³⁶	12.41	DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5

Sources

GO Terms for Ciliary Dyskinesia, Primary, 2

Cellular components related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	10.41	TNNI3 NME8 HSP90AA1 DYNC1I2 DNALI1 DNAI2
2	cytoskeleton	GO:0005856	10.16	DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
3	cell projection	GO:0042995	10.16	DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
4	cilium	GO:0005929	10.02	DNALI1 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
5	microtubule	GO:0005874	9.97	DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
6	motile cilium	GO:0031514	9.91	DNALI1 DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
7	sperm flagellum	GO:0036126	9.8	DNALI1 DNAI2 DNAH8 DNAH17
8	9+2 motile cilium	GO:0097729	9.73	DNALI1 DNAI2 DNAI1 DNAH9 DNAH5 DNAH11
9	axonemal dynein complex	GO:0005858	9.71	DNAI2 DNAH8 DNAH5 DNAH17
10	outer dynein arm	GO:0036157	9.7	NME8 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
11	dynein complex	GO:0030286	9.61	DYNC1I2 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8
12	axoneme	GO:0005930	9.28	NME8 DNALI1 DNAI2 DNAH9 DNAH8 DNAH5

Biological processes related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

(show all 18)

#	Name	GO ID	Score	Top Affiliating Genes
1	heart development	GO:0007507	9.85	TNNI3 DNAI1 DNAH5 DNAH11 DAW1
2	cilium assembly	GO:0060271	9.83	NME8 DNAI2 DNAH5 DNAAF1
3	cell projection organization	GO:0030030	9.78	DNAI2 DNAI1 DNAH9 DNAAF3
4	flagellated sperm motility	GO:0030317	9.73	NME8 DNAI1 DNAH5 DNAH11
5	determination of left/right symmetry	GO:0007368	9.72	DNAI2 DNAI1 DNAH5 DNAH11 DAW1
6	cilium movement	GO:0003341	9.7	DNAI2 DNAI1 DNAH9 DNAH5 DNAH17 DNAH11
7	epithelial cilium movement	GO:0003351	9.65	DNAI1 DNAH5 DNAH11 DNAAF2 DAW1
8	response to antibiotic	GO:0046677	9.58	HSP90AA1 CYP1A1
9	axonemal dynein complex assembly	GO:0070286	9.58	DNAAF3 DNAAF2 DNAAF1
10	motile cilium assembly	GO:0044458	9.57	DNAAF3 DNAAF1
11	inner dynein arm assembly	GO:0036159	9.56	DNAAF2 DNAAF1
12	microtubule-based movement	GO:0007018	9.56	DYNC1I2 DNAI2 DNAI1 DNAH9 DNAH8 DNAH5
13	vitamin D metabolic process	GO:0042359	9.55	CYP27B1 CYP1A1
14	epithelial cilium movement involved in determination of left/right asymmetry	GO:0060287	9.54	DNAH11 DNAAF1
15	cilium-dependent cell motility	GO:0060285	9.54	DNAH8 DNAH17 DNAAF2
16	establishment of localization in cell	GO:0051649	9.51	DNAH5 DAW1
17	regulation of cilium beat frequency	GO:0003356	9.49	DNAH11 DNAAF1
18	outer dynein arm assembly	GO:0036158	9.23	DNAI2 DNAI1 DNAH8 DNAH5 DNAH17 DNAAF2

Molecular functions related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	dynein intermediate chain binding	GO:0045505	9.72	DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
2	dynein heavy chain binding	GO:0045504	9.67	DYNC1I2 DNALI1 DNAI2 DNAI1
3	dynein light intermediate chain binding	GO:0051959	9.65	DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
4	dynein light chain binding	GO:0045503	9.58	DYNC1I2 DNAI2 DNAI1
5	ATP-dependent microtubule motor activity, minus-end-directed	GO:0008569	9.55	DNAH9 DNAH8 DNAH5 DNAH17 DNAH11
6	microtubule motor activity	GO:0003777	9.5	DYNC1I2 DNAI2 DNAH9 DNAH8 DNAH5 DNAH17
7	motor activity	GO:0003774	9.28	DYNC1I2 DNALI1 DNAI2 DNAI1 DNAH9 DNAH8

Sources

Sources for Ciliary Dyskinesia, Primary, 2

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Ciliary Dyskinesia, Primary, 2 (CILD2)

Aliases & Classifications for Ciliary Dyskinesia, Primary, 2

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 2:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Ciliary Dyskinesia, Primary, 2

Related Diseases for Ciliary Dyskinesia, Primary, 2

Diseases in the Primary Ciliary Dyskinesia family:

Diseases related to Ciliary Dyskinesia, Primary, 2 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 2:

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 2

Human phenotypes related to Ciliary Dyskinesia, Primary, 2:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

UMLS symptoms related to Ciliary Dyskinesia, Primary, 2:

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 2:

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 2

Genetic Tests for Ciliary Dyskinesia, Primary, 2

Genetic tests related to Ciliary Dyskinesia, Primary, 2:

Anatomical Context for Ciliary Dyskinesia, Primary, 2

Publications for Ciliary Dyskinesia, Primary, 2

Articles related to Ciliary Dyskinesia, Primary, 2:

Genes for Ciliary Dyskinesia, Primary, 2

Genes related to Ciliary Dyskinesia, Primary, 2 (1 elite genes):

Variations for Ciliary Dyskinesia, Primary, 2

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 2:

UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 2:

Expression for Ciliary Dyskinesia, Primary, 2

Pathways for Ciliary Dyskinesia, Primary, 2

Pathways related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

GO Terms for Ciliary Dyskinesia, Primary, 2

Cellular components related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

Biological processes related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

Molecular functions related to Ciliary Dyskinesia, Primary, 2 according to GeneCards Suite gene sharing:

Sources for Ciliary Dyskinesia, Primary, 2