CILD9
MCID: CLR136
MIFTS: 41

Ciliary Dyskinesia, Primary, 9 (CILD9)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Ciliary Dyskinesia, Primary, 9

MalaCards integrated aliases for Ciliary Dyskinesia, Primary, 9:

Name: Ciliary Dyskinesia, Primary, 9 57 72 29 6 70
Cild9 57 12 72
Ciliary Dyskinesia, Primary, 9, with or Without Situs Inversus 57 13
Primary Ciliary Dyskinesia 9 with or Without Situs Inversus 12 72
Primary Ciliary Dyskinesia 9 12 15
Dyskinesia, Ciliary, Primary, 9 39
Immotile Cilia Syndrome 9 72
Ics9 72

Characteristics:

HPO:

31
ciliary dyskinesia, primary, 9:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110622
OMIM® 57 612444
OMIM Phenotypic Series 57 PS244400
MeSH 44 D007619
ICD10 32 Q34.8
MedGen 41 C2676235
UMLS 70 C2676235

Summaries for Ciliary Dyskinesia, Primary, 9

OMIM® : 57 Primary ciliary dyskinesia is an autosomal recessive disorder resulting from loss of normal ciliary function. Kartagener (pronounced KART-agayner) syndrome is characterized by the combination of primary ciliary dyskinesia and situs inversus, and occurs in approximately half of patients with ciliary dyskinesia. Since normal nodal ciliary movement in the embryo is required for normal visceral asymmetry, absence of normal ciliary movement results in a lack of definitive patterning; thus, random chance alone appears to determine whether the viscera take up the normal or reversed left-right position during embryogenesis. This explains why approximately 50% of patients, even within the same family, have situs inversus (Afzelius, 1976; El Zein et al., 2003). (612444) (Updated 05-Apr-2021)

MalaCards based summary : Ciliary Dyskinesia, Primary, 9, also known as cild9, is related to ciliary dyskinesia, primary, 13 and ciliary dyskinesia, primary, 6. An important gene associated with Ciliary Dyskinesia, Primary, 9 is DNAI2 (Dynein Axonemal Intermediate Chain 2), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Intraflagellar transport. Related phenotypes are situs inversus totalis and recurrent otitis media

Disease Ontology : 12 A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has material basis in homozygous mutation in the DNAI2 gene on chromosome 17q25.

UniProtKB/Swiss-Prot : 72 Ciliary dyskinesia, primary, 9: 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.

Related Diseases for Ciliary Dyskinesia, Primary, 9

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, 9 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 33)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 13 10.2 RSPH9 RSPH4A DNAAF2
2 ciliary dyskinesia, primary, 6 10.2 RSPH9 RSPH4A NME8
3 middle ear disease 10.1 RSPH9 RSPH4A DNAI2
4 paranasal sinus disease 10.1 RSPH9 RSPH4A DNAI2 DNAAF2
5 bronchiectasis 10.0 RSPH9 RSPH4A DNAI2 DNAAF2
6 ciliary dyskinesia, primary, 2 10.0 NME8 DYNC1I2 DNAI2 DNAAF2
7 nephronophthisis 19 9.8 NPHP3 IFT88
8 simpson-golabi-behmel syndrome, type 2 9.8 IFT88 BBS4
9 meckel syndrome, type 3 9.8 NPHP3 IFT88
10 bardet-biedl syndrome 8 9.7 IFT88 BBS4
11 bardet-biedl syndrome 3 9.6 IFT88 BBS4
12 ciliary dyskinesia, primary, 1 9.6 RSPH9 RSPH4A NME8 HYDIN DNAL1 DNAI2
13 alstrom syndrome 9.6 NPHP3 KIF3A BBS4
14 cystic kidney disease 9.5 NPHP3 KIF3A IFT88
15 polycystic kidney disease 9.5 NPHP3 IFT88 CLUAP1 BBS4
16 situs inversus 9.5 RSPH9 RSPH4A NPHP3 NME8 HYDIN DNAI2
17 bardet-biedl syndrome 6 9.5 KIF3A IFT88 BBS4
18 nephronophthisis 2 9.3 NPHP3 KIF3A IFT88 BBS4
19 senior-loken syndrome 1 9.3 NPHP3 KIF3A IFT88 BBS4
20 polycystic kidney disease 4 with or without polycystic liver disease 9.3 NPHP3 KIF3A IFT88 BBS4
21 bardet-biedl syndrome 9.2 NPHP3 KIF3A IFT88 BBS4
22 asphyxiating thoracic dystrophy 9.2 NPHP3 KIF3A IFT88 BBS4
23 polycystic kidney disease 1 with or without polycystic liver disease 9.2 NPHP3 KIF3A IFT88 BBS4
24 meckel syndrome, type 1 9.2 NPHP3 KIF3A IFT88 BBS4
25 ciliary dyskinesia, primary, 10 9.2 SP2 RSPH9 RSPH4A PSMD5 NPHP3 NME8
26 nephronophthisis 9.1 NPHP3 KIF3A IFT88 CLUAP1 BBS4
27 leber plus disease 9.0 NPHP3 KIF3A IFT88 CLUAP1 BBS4
28 joubert syndrome 1 9.0 NPHP3 KIF3A IFT88 CLUAP1 BBS4
29 fundus dystrophy 9.0 NPHP3 KIF3A IFT88 CLUAP1 BBS4
30 visceral heterotaxy 8.4 RSPH9 RSPH4A NPHP3 NME8 KIF3A IFT88
31 retinitis pigmentosa 8.3 RSPH9 RSPH4A PSMD5 NPHP3 NME8 KIF3A
32 kartagener syndrome 8.3 RSPH9 RSPH4A NPHP3 NME8 KIF3A IFT88
33 primary ciliary dyskinesia 7.9 RSPH9 RSPH4A NPHP3 NME8 KIF3A IFT88

Graphical network of the top 20 diseases related to Ciliary Dyskinesia, Primary, 9:



Diseases related to Ciliary Dyskinesia, Primary, 9

Symptoms & Phenotypes for Ciliary Dyskinesia, Primary, 9

Human phenotypes related to Ciliary Dyskinesia, Primary, 9:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 situs inversus totalis 31 very rare (1%) HP:0001696
2 recurrent otitis media 31 HP:0000403
3 cough 31 HP:0012735
4 pneumonia 31 HP:0002090
5 bronchiectasis 31 HP:0002110
6 male infertility 31 HP:0003251
7 ciliary dyskinesia 31 HP:0012265
8 chronic rhinitis 31 HP:0002257
9 recurrent sinusitis 31 HP:0011108

Clinical features from OMIM®:

612444 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Ciliary Dyskinesia, Primary, 9:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 BBS4 CLUAP1 DNAAF2 GNB2 HYDIN IFT88
2 cellular MP:0005384 10.06 BBS4 CLUAP1 DNAAF2 DNAI2 HYDIN IFT88
3 mortality/aging MP:0010768 9.9 BBS4 CLUAP1 DNAAF2 DNAL1 HYDIN IFT88
4 craniofacial MP:0005382 9.73 BBS4 HYDIN IFT88 KIF3A NPHP3 RSPH9
5 nervous system MP:0003631 9.61 BBS4 CLUAP1 DNAAF2 HYDIN IFT88 KIF3A
6 respiratory system MP:0005388 9.23 BBS4 DNAAF2 DNAI2 DNAL1 HYDIN IFT88

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 9

Search Clinical Trials , NIH Clinical Center for Ciliary Dyskinesia, Primary, 9

Genetic Tests for Ciliary Dyskinesia, Primary, 9

Genetic tests related to Ciliary Dyskinesia, Primary, 9:

# Genetic test Affiliating Genes
1 Ciliary Dyskinesia, Primary, 9 29 DNAI2

Anatomical Context for Ciliary Dyskinesia, Primary, 9

Publications for Ciliary Dyskinesia, Primary, 9

Articles related to Ciliary Dyskinesia, Primary, 9:

# Title Authors PMID Year
1
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 6 57
23261302 2013
2
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. 57 6
18950741 2008
3
Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 6
25802884 2015
4
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 6
23891469 2013
5
Lateralization defects and ciliary dyskinesia: lessons from algae. 57
12615011 2003
6
A human syndrome caused by immotile cilia. 57
1084576 1976
7
Molecular characterization of bacterial, viral and fungal endosymbionts of Acanthamoeba isolates in keratitis patients of Iran. 61
30917916 2019

Variations for Ciliary Dyskinesia, Primary, 9

ClinVar genetic disease variations for Ciliary Dyskinesia, Primary, 9:

6 (show top 50) (show all 87)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DNAI2 NM_023036.6(DNAI2):c.346-3T>G SNV Pathogenic 4954 rs397515358 GRCh37: 17:72283113-72283113
GRCh38: 17:74286974-74286974
2 DNAI2 DNAI2, TRP453TER SNV Pathogenic 39653 GRCh37:
GRCh38:
3 DNAI2 NM_023036.6(DNAI2):c.1494+1G>A SNV Pathogenic 4953 rs397515565 GRCh37: 17:72306303-72306303
GRCh38: 17:74310164-74310164
4 DNAI2 NM_023036.6(DNAI2):c.787C>T (p.Arg263Ter) SNV Pathogenic 4955 rs137852998 GRCh37: 17:72295919-72295919
GRCh38: 17:74299780-74299780
5 DNAI2 NM_023036.6(DNAI2):c.526_527insTA (p.Arg176fs) Insertion Pathogenic 1029872 GRCh37: 17:72285790-72285791
GRCh38: 17:74289651-74289652
6 DNAI2 NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter) SNV Pathogenic 408961 rs200708870 GRCh37: 17:72297203-72297203
GRCh38: 17:74301064-74301064
7 DNAI2 NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter) SNV Pathogenic/Likely pathogenic 228335 rs752924362 GRCh37: 17:72305484-72305484
GRCh38: 17:74309345-74309345
8 DNAI2 NM_023036.6(DNAI2):c.1723-1G>T SNV Pathogenic/Likely pathogenic 551962 rs201909971 GRCh37: 17:72310259-72310259
GRCh38: 17:74314120-74314120
9 DNAI2 NM_023036.6(DNAI2):c.674del (p.Asn225fs) Deletion Likely pathogenic 804422 rs1598293348 GRCh37: 17:72287221-72287221
GRCh38: 17:74291082-74291082
10 DNAI2 NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) SNV Conflicting interpretations of pathogenicity 261644 rs151241589 GRCh37: 17:72308362-72308362
GRCh38: 17:74312223-74312223
11 DNAI2 NM_023036.6(DNAI2):c.1408G>A (p.Gly470Ser) SNV Uncertain significance 193927 rs115299472 GRCh37: 17:72306216-72306216
GRCh38: 17:74310077-74310077
12 DNAI2 NM_023036.6(DNAI2):c.1533G>T (p.Glu511Asp) SNV Uncertain significance 325020 rs150710001 GRCh37: 17:72308180-72308180
GRCh38: 17:74312041-74312041
13 DNAI2 NM_023036.6(DNAI2):c.828G>A (p.Thr276=) SNV Uncertain significance 325013 rs149918986 GRCh37: 17:72295960-72295960
GRCh38: 17:74299821-74299821
14 DNAI2 NM_023036.6(DNAI2):c.1574C>T (p.Ala525Val) SNV Uncertain significance 241450 rs145602856 GRCh37: 17:72308221-72308221
GRCh38: 17:74312082-74312082
15 DNAI2 NM_023036.6(DNAI2):c.1000A>G (p.Met334Val) SNV Uncertain significance 325016 rs779742315 GRCh37: 17:72301370-72301370
GRCh38: 17:74305231-74305231
16 DNAI2 NM_023036.6(DNAI2):c.1248C>T (p.Ser416=) SNV Uncertain significance 325018 rs886053378 GRCh37: 17:72305428-72305428
GRCh38: 17:74309289-74309289
17 DNAI2 NM_023036.6(DNAI2):c.1380G>T (p.Val460=) SNV Uncertain significance 261641 rs148947094 GRCh37: 17:72306188-72306188
GRCh38: 17:74310049-74310049
18 DNAI2 NM_023036.6(DNAI2):c.1165C>T (p.Arg389Cys) SNV Uncertain significance 325017 rs375896715 GRCh37: 17:72301535-72301535
GRCh38: 17:74305396-74305396
19 DNAI2 NM_023036.6(DNAI2):c.*272C>G SNV Uncertain significance 325027 rs886053380 GRCh37: 17:72310944-72310944
GRCh38: 17:74314805-74314805
20 DNAI2 NM_023036.6(DNAI2):c.-4C>T SNV Uncertain significance 325005 rs757989808 GRCh37: 17:72277953-72277953
GRCh38: 17:74281814-74281814
21 DNAI2 NM_023036.6(DNAI2):c.325G>A (p.Ala109Thr) SNV Uncertain significance 325008 rs192790912 GRCh37: 17:72281320-72281320
GRCh38: 17:74285181-74285181
22 DNAI2 NM_023036.6(DNAI2):c.610+12C>T SNV Uncertain significance 325011 rs374447879 GRCh37: 17:72285887-72285887
GRCh38: 17:74289748-74289748
23 DNAI2 NM_023036.6(DNAI2):c.*19G>A SNV Uncertain significance 325025 rs757199467 GRCh37: 17:72310374-72310374
GRCh38: 17:74314235-74314235
24 DNAI2 NM_023036.6(DNAI2):c.-21C>T SNV Uncertain significance 325003 rs753355539 GRCh37: 17:72270475-72270475
GRCh38: 17:74274336-74274336
25 DNAI2 NM_023036.6(DNAI2):c.611-3T>C SNV Uncertain significance 325012 rs886053377 GRCh37: 17:72287156-72287156
GRCh38: 17:74291017-74291017
26 DNAI2 NM_023036.6(DNAI2):c.1602T>C (p.Asp534=) SNV Uncertain significance 325022 rs376541043 GRCh37: 17:72308249-72308249
GRCh38: 17:74312110-74312110
27 DNAI2 NM_023036.6(DNAI2):c.1552C>T (p.Arg518Trp) SNV Uncertain significance 325021 rs377582813 GRCh37: 17:72308199-72308199
GRCh38: 17:74312060-74312060
28 DNAI2 NM_023036.6(DNAI2):c.318C>T (p.Tyr106=) SNV Uncertain significance 325007 rs764812763 GRCh37: 17:72281313-72281313
GRCh38: 17:74285174-74285174
29 DNAI2 NM_023036.6(DNAI2):c.565C>T (p.Arg189Trp) SNV Uncertain significance 325010 rs138885031 GRCh37: 17:72285830-72285830
GRCh38: 17:74289691-74289691
30 DNAI2 NM_023036.6(DNAI2):c.-17C>A SNV Uncertain significance 325004 rs754497256 GRCh37: 17:72270479-72270479
GRCh38: 17:74274340-74274340
31 DNAI2 NM_023036.6(DNAI2):c.1489T>A (p.Ser497Thr) SNV Uncertain significance 325019 rs776297555 GRCh37: 17:72306297-72306297
GRCh38: 17:74310158-74310158
32 DNAI2 NM_023036.6(DNAI2):c.467+3A>G SNV Uncertain significance 889223 GRCh37: 17:72283240-72283240
GRCh38: 17:74287101-74287101
33 DNAI2 NM_023036.6(DNAI2):c.531G>T (p.Lys177Asn) SNV Uncertain significance 889224 GRCh37: 17:72285796-72285796
GRCh38: 17:74289657-74289657
34 DNAI2 NM_023036.6(DNAI2):c.535G>T (p.Ala179Ser) SNV Uncertain significance 889225 GRCh37: 17:72285800-72285800
GRCh38: 17:74289661-74289661
35 DNAI2 NM_023036.6(DNAI2):c.566G>A (p.Arg189Gln) SNV Uncertain significance 889226 GRCh37: 17:72285831-72285831
GRCh38: 17:74289692-74289692
36 DNAI2 NM_023036.6(DNAI2):c.1348-15C>G SNV Uncertain significance 889279 GRCh37: 17:72306141-72306141
GRCh38: 17:74310002-74310002
37 DNAI2 NM_023036.6(DNAI2):c.1455C>G (p.Leu485=) SNV Uncertain significance 889280 GRCh37: 17:72306263-72306263
GRCh38: 17:74310124-74310124
38 DNAI2 NM_023036.6(DNAI2):c.982A>G (p.Thr328Ala) SNV Uncertain significance 891450 GRCh37: 17:72297302-72297302
GRCh38: 17:74301163-74301163
39 DNAI2 NM_023036.6(DNAI2):c.1712C>T (p.Thr571Met) SNV Uncertain significance 891531 GRCh37: 17:72308359-72308359
GRCh38: 17:74312220-74312220
40 DNAI2 NM_023036.6(DNAI2):c.*138C>A SNV Uncertain significance 891772 GRCh37: 17:72310810-72310810
GRCh38: 17:74314671-74314671
41 DNAI2 NM_023036.6(DNAI2):c.*299A>G SNV Uncertain significance 891773 GRCh37: 17:72310971-72310971
GRCh38: 17:74314832-74314832
42 DNAI2 NM_023036.6(DNAI2):c.*339C>T SNV Uncertain significance 891774 GRCh37: 17:72311011-72311011
GRCh38: 17:74314872-74314872
43 DNAI2 NM_023036.6(DNAI2):c.1600G>A (p.Asp534Asn) SNV Uncertain significance 241451 rs538543314 GRCh37: 17:72308247-72308247
GRCh38: 17:74312108-74312108
44 DNAI2 NM_023036.6(DNAI2):c.1153G>A (p.Asp385Asn) SNV Uncertain significance 567344 rs567531807 GRCh37: 17:72301523-72301523
GRCh38: 17:74305384-74305384
45 DNAI2 NM_023036.6(DNAI2):c.598A>C (p.Ile200Leu) SNV Uncertain significance 525517 rs144786630 GRCh37: 17:72285863-72285863
GRCh38: 17:74289724-74289724
46 DNAI2 NM_023036.6(DNAI2):c.1629G>A (p.Ala543=) SNV Uncertain significance 525570 rs201925425 GRCh37: 17:72308276-72308276
GRCh38: 17:74312137-74312137
47 DNAI2 NM_023036.6(DNAI2):c.1644C>T (p.Ala548=) SNV Uncertain significance 241452 rs9908476 GRCh37: 17:72308291-72308291
GRCh38: 17:74312152-74312152
48 DNAI2 NM_023036.6(DNAI2):c.39G>A (p.Glu13=) SNV Uncertain significance 764259 rs533814143 GRCh37: 17:72277995-72277995
GRCh38: 17:74281856-74281856
49 DNAI2 NM_023036.6(DNAI2):c.1683G>A (p.Lys561=) SNV Uncertain significance 702025 rs767757416 GRCh37: 17:72308330-72308330
GRCh38: 17:74312191-74312191
50 DNAI2 NM_023036.6(DNAI2):c.197G>T (p.Arg66Leu) SNV Uncertain significance 415315 rs147470752 GRCh37: 17:72281192-72281192
GRCh38: 17:74285053-74285053

Expression for Ciliary Dyskinesia, Primary, 9

Search GEO for disease gene expression data for Ciliary Dyskinesia, Primary, 9.

Pathways for Ciliary Dyskinesia, Primary, 9

Pathways related to Ciliary Dyskinesia, Primary, 9 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.83 NPHP3 KIF3A IFT88 DYNC1I2 CLUAP1 BBS4
2 10.74 KIF3A IFT88 CLUAP1

GO Terms for Ciliary Dyskinesia, Primary, 9

Cellular components related to Ciliary Dyskinesia, Primary, 9 according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.31 RSPH9 RSPH4A NME8 KIF3A IFT88 HYDIN
2 cytoskeleton GO:0005856 9.91 RSPH9 RSPH4A KIF3A IFT88 HYDIN DYNC1I2
3 centrosome GO:0005813 9.88 KIF3A IFT88 DYNC1I2 CLUAP1 BBS4
4 microtubule GO:0005874 9.81 KIF3A DYNC1I2 DNAL1 DNAI2
5 centriole GO:0005814 9.72 KIF3A IFT88 BBS4
6 motile cilium GO:0031514 9.71 RSPH9 RSPH4A IFT88 BBS4
7 cell projection GO:0042995 9.65 RSPH9 RSPH4A NPHP3 KIF3A IFT88 HYDIN
8 ciliary tip GO:0097542 9.63 KIF3A IFT88 CLUAP1
9 non-motile cilium GO:0097730 9.56 IFT88 BBS4
10 axoneme GO:0005930 9.55 RSPH9 RSPH4A NME8 KIF3A DNAI2
11 dynein complex GO:0030286 9.54 DYNC1I2 DNAL1 DNAI2
12 intraciliary transport particle B GO:0030992 9.52 IFT88 CLUAP1
13 outer dynein arm GO:0036157 9.5 NME8 DNAL1 DNAI2
14 9+2 motile cilium GO:0097729 9.49 RSPH9 DNAI2
15 radial spoke GO:0001534 9.43 RSPH9 RSPH4A
16 cilium GO:0005929 9.28 RSPH9 RSPH4A NPHP3 KIF3A IFT88 HYDIN

Biological processes related to Ciliary Dyskinesia, Primary, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 9.58 KIF3A DYNC1I2 DNAI2
2 intraciliary transport involved in cilium assembly GO:0035735 9.5 KIF3A IFT88 CLUAP1
3 cell projection organization GO:0030030 9.5 RSPH9 RSPH4A KIF3A IFT88 DNAI2 CLUAP1
4 axoneme assembly GO:0035082 9.48 RSPH9 RSPH4A
5 cilium movement involved in cell motility GO:0060294 9.46 RSPH9 RSPH4A
6 cilium movement GO:0003341 9.46 RSPH9 RSPH4A HYDIN DNAI2
7 microtubule anchoring at centrosome GO:0034454 9.43 KIF3A BBS4
8 outer dynein arm assembly GO:0036158 9.43 DNAL1 DNAI2 DNAAF2
9 axonemal central apparatus assembly GO:1904158 9.37 RSPH9 HYDIN
10 cilium assembly GO:0060271 9.28 RSPH9 RSPH4A NPHP3 NME8 KIF3A IFT88

Molecular functions related to Ciliary Dyskinesia, Primary, 9 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.33 KIF3A DYNC1I2 DNAI2
2 dynein light chain binding GO:0045503 9.26 DYNC1I2 DNAI2
3 motor activity GO:0003774 9.26 KIF3A DYNC1I2 DNAL1 DNAI2
4 dynein heavy chain binding GO:0045504 8.8 DYNC1I2 DNAL1 DNAI2

Sources for Ciliary Dyskinesia, Primary, 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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