delayed puberty Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty. (Human Phenotype Ontology, HP_0000823)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000823
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Genes

28 genes associated with the delayed puberty phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALDOA aldolase A, fructose-bisphosphate
ATM ATM serine/threonine kinase
CHD7 chromodomain helicase DNA binding protein 7
CTNS cystinosin, lysosomal cystine transporter
CUL4B cullin 4B
FAM111B family with sequence similarity 111, member B
FGD1 FYVE, RhoGEF and PH domain containing 1
G6PC glucose-6-phosphatase, catalytic subunit
GHR growth hormone receptor
GLA galactosidase, alpha
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
HDAC8 histone deacetylase 8
LEPR leptin receptor
NDN necdin, melanoma antigen (MAGE) family member
NR0B1 nuclear receptor subfamily 0, group B, member 1
PGM1 phosphoglucomutase 1
PHF6 PHD finger protein 6
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUS1 pseudouridylate synthase 1
RBM28 RNA binding motif protein 28
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBX3 T-box 3
TGFB1 transforming growth factor, beta 1
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
VPS13B vacuolar protein sorting 13 homolog B (yeast)