Dwarfism Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. (Human Phenotype Ontology, HP_0003510)
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Genes

18 genes associated with the Dwarfism phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
EXT1 exostosin glycosyltransferase 1
GH1 growth hormone 1
GHR growth hormone receptor
HLA-E major histocompatibility complex, class I, E
HLA-G major histocompatibility complex, class I, G
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP3 insulin-like growth factor binding protein 3
INS insulin
LEP leptin
LEPR leptin receptor
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
NPR2 natriuretic peptide receptor 2
PPARG peroxisome proliferator-activated receptor gamma
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
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