kyphoscoliosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. (Human Phenotype Ontology, HP_0002751)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000069
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Genes

19 gene mutations causing the kyphoscoliosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACP2 acid phosphatase 2, lysosomal
CASR calcium-sensing receptor
CLCN3 chloride channel, voltage-sensitive 3
COL12A1 collagen, type XII, alpha 1
COL1A1 collagen, type I, alpha 1
CREB3L1 cAMP responsive element binding protein 3-like 1
CRTAP cartilage associated protein
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
GRM1 glutamate receptor, metabotropic 1
INHA inhibin, alpha
ITPK1 inositol-tetrakisphosphate 1-kinase
KY kyphoscoliosis peptidase
LMNA lamin A/C
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
SMAD3 SMAD family member 3
SYNE1 spectrin repeat containing, nuclear envelope 1
TRAF4 TNF receptor-associated factor 4
TRPS1 trichorhinophalangeal syndrome I