Short Stature Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to short stature as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). (Human Phenotype Ontology, HP_0004322)
External Link https://www.disgenet.org/browser/0/1/0/C1845118
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Genes

33 genes associated with the disease Short Stature in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ARCN1 archain 1
ARX aristaless related homeobox
BMP2 bone morphogenetic protein 2
CCL2 chemokine (C-C motif) ligand 2
CCL8 chemokine (C-C motif) ligand 8
CDX2 caudal type homeobox 2
CRIPT cysteine-rich PDZ-binding protein
EXOSC2 exosome component 2
GH1 growth hormone 1
GHR growth hormone receptor
GSC goosecoid homeobox
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP3 insulin-like growth factor binding protein 3
IHH indian hedgehog
JAK2 Janus kinase 2
KLHL17 kelch-like family member 17
LEPR leptin receptor
MAGI2 membrane associated guanylate kinase, WW and PDZ domain containing 2
MAT1A methionine adenosyltransferase I, alpha
NBAS neuroblastoma amplified sequence
NPR2 natriuretic peptide receptor 2
NR0B2 nuclear receptor subfamily 0, group B, member 2
POC1A POC1 centriolar protein A
PRMT7 protein arginine methyltransferase 7
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRQ protein tyrosine phosphatase, receptor type, Q
SAMHD1 SAM domain and HD domain 1
SHOX short stature homeobox
SOCS2 suppressor of cytokine signaling 2
TKT transketolase
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4