Precocious Puberty Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link https://www.disgenet.org/browser/0/1/0/C0034013
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Genes

136 genes associated with the disease Precocious Puberty in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
AMH anti-Mullerian hormone
APC2 adenomatosis polyposis coli 2
APOA1 apolipoprotein A-I
APOB apolipoprotein B
AR androgen receptor
ARX aristaless related homeobox
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BEST1 bestrophin 1
BMS1 BMS1 ribosome biogenesis factor
BRD2 bromodomain containing 2
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C1QL1 complement component 1, q subcomponent-like 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CAV1 caveolin 1, caveolae protein, 22kDa
CAVIN1 caveolae associated protein 1
CCL18 chemokine (C-C motif) ligand 18 (pulmonary and activation-regulated)
CD44 CD44 molecule (Indian blood group)
CDKL5 cyclin-dependent kinase-like 5
CHDH choline dehydrogenase
CLIP2 CAP-GLY domain containing linker protein 2
CNTNAP2 contactin associated protein-like 2
COASY CoA synthase
COL1A1 collagen, type I, alpha 1
CPLX1 complexin 1
CREBRF CREB3 regulatory factor
CRH corticotropin releasing hormone
CRP C-reactive protein, pentraxin-related
CTBP1 C-terminal binding protein 1
CUL9 cullin 9
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DEAF1 DEAF1 transcription factor
DHCR7 7-dehydrocholesterol reductase
DLK1 delta-like 1 homolog (Drosophila)
DMD dystrophin
ELN elastin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ESRRG estrogen-related receptor gamma
FGFRL1 fibroblast growth factor receptor-like 1
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FSHR follicle stimulating hormone receptor
GH1 growth hormone 1
GLI3 GLI family zinc finger 3
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGFALS insulin-like growth factor binding protein, acid labile subunit
INSR insulin receptor
IPP intracisternal A particle-promoted polypeptide
IQSEC2 IQ motif and Sec7 domain 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNT1 potassium channel, sodium activated subfamily T, member 1
KDM6A lysine (K)-specific demethylase 6A
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KMT2B lysine (K)-specific methyltransferase 2B
KMT2D lysine (K)-specific methyltransferase 2D
LEP leptin
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LIMK1 LIM domain kinase 1
LIN28A lin-28 homolog A (C. elegans)
LIN28B lin-28 homolog B (C. elegans)
LMNA lamin A/C
MAGEL2 melanoma antigen family L2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MKRN3 makorin ring finger protein 3
MRAP melanocortin 2 receptor accessory protein
NEUROD2 neuronal differentiation 2
NNT nicotinamide nucleotide transhydrogenase
NPY neuropeptide Y
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
NRXN1 neurexin 1
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
PAPPA2 pappalysin 2
PCNT pericentrin
PHB2 prohibitin 2
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PLAGL1 pleiomorphic adenoma gene-like 1
PNKP polynucleotide kinase 3'-phosphatase
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PROKR2 prokineticin receptor 2
PTEN phosphatase and tensin homolog
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTH1R parathyroid hormone 1 receptor
QPCT glutaminyl-peptide cyclotransferase
RAB23 RAB23, member RAS oncogene family
RAI1 retinoic acid induced 1
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
REN renin
RETN resistin
RFC2 replication factor C (activator 1) 2, 40kDa
SCN2A sodium channel, voltage gated, type II alpha subunit
SETD2 SET domain containing 2
SIK1 salt-inducible kinase 1
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
STAR steroidogenic acute regulatory protein
STXBP1 syntaxin binding protein 1
TAC3 tachykinin 3
TBL2 transducin (beta)-like 2
TGFA transforming growth factor, alpha
TRIM8 tripartite motif containing 8
TRPC6 transient receptor potential cation channel, subfamily C, member 6
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSHR thyroid stimulating hormone receptor
TXNRD2 thioredoxin reductase 2
ZBTB7A zinc finger and BTB domain containing 7A