MCID: CLR059

Ciliary Dyskinesia, Primary, 13 malady

Summaries for Ciliary Dyskinesia, Primary, 13

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47OMIM, 33MalaCards
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MalaCards: Ciliary Dyskinesia, Primary, 13 is related to primary ciliary dyskinesia. An important gene associated with Ciliary Dyskinesia, Primary, 13 is DNAAF1 (dynein, axonemal, assembly factor 1).

Description from OMIM:47 613193

Aliases & Classifications for Ciliary Dyskinesia, Primary, 13

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47OMIM
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Aliases & Descriptions:

ciliary dyskinesia, primary, 13 47


Related Diseases for Ciliary Dyskinesia, Primary, 13

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17GeneCards, 18GeneDecks
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Clinical Features for Ciliary Dyskinesia, Primary, 13

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47OMIM
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Clinical features from OMIM:

613193

Clinical synopsis from OMIM:

613193

Drugs & Therapeutics for Ciliary Dyskinesia, Primary, 13

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Ciliary Dyskinesia, Primary, 13

Anatomical Context for Ciliary Dyskinesia, Primary, 13

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

Sources:
28inGenious Targeting Laboratory
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Publications for Ciliary Dyskinesia, Primary, 13

Genetic Variations for Ciliary Dyskinesia, Primary, 13

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Ciliary Dyskinesia, Primary, 13:

63
id Symbol AA change Variation SNP ID
1DNAAF1p.Leu175ArgVAR_063098

Expression for genes affiliated with Ciliary Dyskinesia, Primary, 13

Sources:
1BioGPS, 15Gene 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

Compounds for genes affiliated with Ciliary Dyskinesia, Primary, 13

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

Sources:
16Gene Ontology
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Cellular components related to Ciliary Dyskinesia, Primary, 13 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cilium axonemeGO:0350859.1DNAAF1, RPGR

Products for genes affiliated with Ciliary Dyskinesia, Primary, 13

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ciliary Dyskinesia, Primary, 13

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet