MCID: CLR059
MIFTS: 10

Ciliary Dyskinesia, Primary, 13 malady

Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Cancer diseases categories

Summaries for Ciliary Dyskinesia, Primary, 13

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48OMIM, 34MalaCards
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MalaCards: Ciliary Dyskinesia, Primary, 13 An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (dynein, axonemal, assembly factor 1).

Description from OMIM:48 613193

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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48OMIM
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Classifications:



Aliases & Descriptions:

ciliary dyskinesia, primary, 13 48


Symptoms for Ciliary Dyskinesia, Primary, 13

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48OMIM
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Symptoms by clinical synopsis from OMIM:

613193

Clinical features from OMIM:

613193

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ciliary Dyskinesia, Primary, 13

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Anatomical Context for Ciliary Dyskinesia, Primary, 13

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Animal Models for Ciliary Dyskinesia, Primary, 13 or affiliated genes

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Publications for Ciliary Dyskinesia, Primary, 13

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Variations for Ciliary Dyskinesia, Primary, 13

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Ciliary Dyskinesia, Primary, 13:

65
id Symbol AA change Variation ID SNP ID
1DNAAF1p.Leu175ArgVAR_063098

Clinvar genetic disease variations for Ciliary Dyskinesia, Primary, 13:

1
id Gene Name Type Significance SNP ID Assembly Location
1DNAAF1NM_178452.4(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203784
2DNAAF1NM_178452.4(DNAAF1): c.811C> T (p.Arg271Ter)single nucleotide variantPathogenicrs267607225GRCh37Chr 16, 84193349: 84193349
3DNAAF1NM_178452.4(DNAAF1): c.792C> A (p.Tyr264Ter)single nucleotide variantPathogenicrs267607226GRCh37Chr 16, 84193330: 84193330
4DNAAF1DNAAF1, 1-BP DUP, 508GinsertionPathogenic
5DNAAF1NM_178452.4(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
6NG_021174.1: g.6841_12216deldeletionPathogenicGRCh37Chr 16, 84180705: 84186080

Expression for genes affiliated with Ciliary Dyskinesia, Primary, 13

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Pathways for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Compounds for genes affiliated with Ciliary Dyskinesia, Primary, 13

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GO Terms for genes affiliated with Ciliary Dyskinesia, Primary, 13

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Products for genes affiliated with Ciliary Dyskinesia, Primary, 13

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ciliary Dyskinesia, Primary, 13

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet