MCID: KLP006

Klippel-Feil Syndrome 3, Autosomal Dominant malady

Summaries for Klippel-Feil Syndrome 3, Autosomal Dominant

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46OMIM, 32MalaCards
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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:46 613702

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

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46OMIM
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Aliases & Descriptions:

klippel-feil syndrome 3, autosomal dominant 46


Related Diseases for Klippel-Feil Syndrome 3, Autosomal Dominant

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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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46OMIM
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Clinical features from OMIM:

613702

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

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Klippel-Feil Syndrome 3, Autosomal Dominant

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

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Publications for Klippel-Feil Syndrome 3, Autosomal Dominant

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Genetic Variations for Klippel-Feil Syndrome 3, Autosomal Dominant

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

62
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412

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

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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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Klippel-Feil Syndrome 3, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet