accelerated skeletal maturation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormally increased rate of skeletal maturation. Accelerated skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. (Human Phenotype Ontology, HP_0005616)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005616
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Genes

39 genes associated with the accelerated skeletal maturation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALMS1 Alstrom syndrome protein 1
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GAT3 beta-1,3-glucuronyltransferase 3
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
INSR insulin receptor
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
LHCGR luteinizing hormone/choriogonadotropin receptor
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MKRN3 makorin ring finger protein 3
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NSD1 nuclear receptor binding SET domain protein 1
PDE4D phosphodiesterase 4D, cAMP-specific
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTH1R parathyroid hormone 1 receptor
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SHANK3 SH3 and multiple ankyrin repeat domains 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
TRPS1 trichorhinophalangeal syndrome I
TSHR thyroid stimulating hormone receptor
XYLT1 xylosyltransferase I