growth hormone deficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism. (Human Phenotype Ontology, HP_0000824)
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28 genes associated with the growth hormone deficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALMS1 Alstrom syndrome protein 1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
BTK Bruton agammaglobulinemia tyrosine kinase
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CRH corticotropin releasing hormone
GH1 growth hormone 1
GHRHR growth hormone releasing hormone receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HESX1 HESX homeobox 1
KIAA0196 KIAA0196
LEPR leptin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
NDN necdin, melanoma antigen (MAGE) family member
PITX2 paired-like homeodomain 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX3 SRY (sex determining region Y)-box 3
STAT5B signal transducer and activator of transcription 5B
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
VPS13B vacuolar protein sorting 13 homolog B (yeast)