vertebral fusion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A developmental defect leading to the union of two adjacent vertebrae. (Human Phenotype Ontology, HP_0002948)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002948
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Genes

29 genes associated with the vertebral fusion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR1 activin A receptor, type I
ANKRD11 ankyrin repeat domain 11
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
DLL3 delta-like 3 (Drosophila)
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FLNA filamin A, alpha
FLNB filamin B, beta
GDF3 growth differentiation factor 3
GDF5 growth differentiation factor 5
GDF6 growth differentiation factor 6
HES7 hes family bHLH transcription factor 7
HGD homogentisate 1,2-dioxygenase
IL1RN interleukin 1 receptor antagonist
KANSL1 KAT8 regulatory NSL complex subunit 1
MEOX1 mesenchyme homeobox 1
NOG noggin
PTCH1 patched 1
PTCH2 patched 2
PUF60 poly-U binding splicing factor 60KDa
RBM8A RNA binding motif protein 8A
ROR2 receptor tyrosine kinase-like orphan receptor 2
SALL4 spalt-like transcription factor 4
SMAD4 SMAD family member 4
SOX2 SRY (sex determining region Y)-box 2
SUFU suppressor of fused homolog (Drosophila)
TBX6 T-box 6