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MCID: KLP012
MIFTS: 16
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Klippel-Feil Syndrome 1
Categories:
Bone diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Klippel-Feil Syndrome 1:Classifications:External Ids:
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Disease Ontology :
12
A Klippel-Feil syndrome that has material basis in heterozygous mutation in the GDF6 gene on chromosome 8q22.
MalaCards based summary : Klippel-Feil Syndrome 1 is related to klippel-feil syndrome 1, autosomal dominant and parkinson disease 8, autosomal dominant. An important gene associated with Klippel-Feil Syndrome 1 is GDF6 (Growth Differentiation Factor 6), and among its related pathways/superpathways are Hippo signaling pathway and TGF-beta signaling pathway (KEGG). Affiliated tissues include bone. |
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MalaCards organs/tissues related to Klippel-Feil Syndrome 1:40
Bone
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Genes related to Klippel-Feil Syndrome 1 (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Klippel-Feil Syndrome 1.
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Cellular components related to Klippel-Feil Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Klippel-Feil Syndrome 1 according to GeneCards Suite gene sharing:
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