atlantoaxial abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the atlantoaxial joint, i.e., of the joint between the first (atlas) and second (axis) cervical vertebrae. (Human Phenotype Ontology, HP_0003413)
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6 genes associated with the atlantoaxial abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COMP cartilage oligomeric matrix protein
DDR2 discoidin domain receptor tyrosine kinase 2
DYM dymeclin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
NFIX nuclear factor I/X (CCAAT-binding transcription factor)