metaphyseal cupping Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance. (Human Phenotype Ontology, HP_0003021)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003021
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Genes

10 genes associated with the metaphyseal cupping phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALPL alkaline phosphatase, liver/bone/kidney
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
HDAC6 histone deacetylase 6
INPPL1 inositol polyphosphate phosphatase-like 1
LBR lamin B receptor
MMP13 matrix metallopeptidase 13
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease