MCID: KLP006

Klippel-Feil Syndrome 3, Autosomal Dominant malady

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

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47OMIM, 33MalaCards
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MalaCards: Klippel-Feil Syndrome 3, Autosomal Dominant An important gene associated with Klippel-Feil Syndrome 3, Autosomal Dominant is GDF3 (growth differentiation factor 3).

Description from OMIM:47 613702

Aliases & Classifications for Klippel-Feil Syndrome 3, Autosomal Dominant

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47OMIM
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Aliases & Descriptions:

klippel-feil syndrome 3, autosomal dominant 47


Related Diseases for Klippel-Feil Syndrome 3, Autosomal Dominant

Diseases in the klippel-feil syndrome 1, autosomal dominant family:

klippel-feil syndrome 2, autosomal recessive klippel-feil syndrome 3, autosomal dominant

Clinical Features for Klippel-Feil Syndrome 3, Autosomal Dominant

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47OMIM
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Clinical features from OMIM:

613702

Drugs & Therapeutics for Klippel-Feil Syndrome 3, Autosomal Dominant

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

Search CenterWatch for Klippel-Feil Syndrome 3, Autosomal Dominant

Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 3, Autosomal Dominant

Search NIH Clinical Center for Klippel-Feil Syndrome 3, Autosomal Dominant

Search CenterWatch for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic Tests for Klippel-Feil Syndrome 3, Autosomal Dominant

Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

Animal Models for Klippel-Feil Syndrome 3, Autosomal Dominant or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

Genetic Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

63
id Symbol AA change Variation SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412

Expression for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

Search GEO for disease gene expression data for Klippel-Feil Syndrome 3, Autosomal Dominant.

Pathways for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

Compounds for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

GO Terms for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

Products for genes affiliated with Klippel-Feil Syndrome 3, Autosomal Dominant

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Klippel-Feil Syndrome 3, Autosomal Dominant

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