precocious puberty Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. (Human Phenotype Ontology, HP_0000826)
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44 genes associated with the precocious puberty phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CLIP2 CAP-GLY domain containing linker protein 2
CREBBP CREB binding protein
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
DHCR7 7-dehydrocholesterol reductase
ELN elastin
FLII flightless I homolog (Drosophila)
FOS FBJ murine osteosarcoma viral oncogene homolog
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
INSR insulin receptor
KDM6A lysine (K)-specific demethylase 6A
KISS1R KISS1 receptor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LHCGR luteinizing hormone/choriogonadotropin receptor
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MKRN3 makorin ring finger protein 3
NDN necdin, melanoma antigen (MAGE) family member
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD1 nuclear receptor binding SET domain protein 1
PCNT pericentrin
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RFC2 replication factor C (activator 1) 2, 40kDa
SMAD4 SMAD family member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
STK11 serine/threonine kinase 11
TBL2 transducin (beta)-like 2
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2