Klippel-Feil Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A physical disorder that has_material_basis_in abnormal segmentation of the vertebra during fetal development which results_in fusion located_in cervical vertebra. (Human Disease Ontology, DOID_10426)
External Link https://www.disgenet.org/browser/0/1/0/C0022738
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Genes

12 genes associated with the disease Klippel-Feil Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
DKK1 dickkopf WNT signaling pathway inhibitor 1
GDF1 growth differentiation factor 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
KMT2A lysine (K)-specific methyltransferase 2A
MEOX1 mesenchyme homeobox 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYO18B myosin XVIIIB
NOG noggin
PAX1 paired box 1
RPS19 ribosomal protein S19
TBX2 T-box 2