hemivertebrae Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence of one half of the vertebral body. (Human Phenotype Ontology, HP_0002937)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002937
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Genes

24 genes associated with the hemivertebrae phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
CHD7 chromodomain helicase DNA binding protein 7
DLL3 delta-like 3 (Drosophila)
EBP emopamil binding protein (sterol isomerase)
FGFR1 fibroblast growth factor receptor 1
GLI3 GLI family zinc finger 3
HES7 hes family bHLH transcription factor 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
JAG1 jagged 1
KIAA0196 KIAA0196
ORC1 origin recognition complex, subunit 1
POR P450 (cytochrome) oxidoreductase
PTCH1 patched 1
PTCH2 patched 2
PUF60 poly-U binding splicing factor 60KDa
RAD21 RAD21 homolog (S. pombe)
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
TBX6 T-box 6
TMCO1 transmembrane and coiled-coil domains 1
WNT7A wingless-type MMTV integration site family, member 7A