mild short stature Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex. (Human Phenotype Ontology, HP_0003502)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003502
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Genes

12 genes associated with the mild short stature phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
COL10A1 collagen, type X, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
EVC Ellis van Creveld protein
FGD1 FYVE, RhoGEF and PH domain containing 1
IDS iduronate 2-sulfatase
LBR lamin B receptor
PDE4D phosphodiesterase 4D, cAMP-specific
RTTN rotatin