MCID: KLP006

Klippel-Feil Syndrome 3, Autosomal Dominant malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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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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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Fetal diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

klippel-feil syndrome 3, autosomal dominant 47


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

Symptoms 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

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Klippel-Feil Syndrome 3, Autosomal Dominant

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

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

64
id Symbol AA change Variation ID SNP ID
1GDF3p.Arg266CysVAR_065148rs140926412

Clinvar genetic disease variations for Klippel-Feil Syndrome 3, Autosomal Dominant:

1
id Gene Name Type Significance SNP ID Assembly Location
1GDF3NM_020634.1(GDF3): c.796C> T (p.Arg266Cys)single nucleotide variantPathogenicrs140926412GRCh37Chr 12, 7842773: 7842773

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

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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet