carpal bone hypoplasia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment of one or more carpal bones. (Human Phenotype Ontology, HP_0001498)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001498
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Genes

8 genes associated with the carpal bone hypoplasia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COMP cartilage oligomeric matrix protein
DYM dymeclin
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
KIF22 kinesin family member 22
RBM8A RNA binding motif protein 8A
SALL4 spalt-like transcription factor 4
TRPV4 transient receptor potential cation channel, subfamily V, member 4
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