abnormality of skeletal maturation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation. (Human Phenotype Ontology, HP_0000927)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000927
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Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ADAMTSL2 ADAMTS-like 2
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALMS1 Alstrom syndrome protein 1
ANKRD11 ankyrin repeat domain 11
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ARID1B AT rich interactive domain 1B (SWI1-like)
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLM Bloom syndrome, RecQ helicase-like
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
CANT1 calcium activated nucleotidase 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCBE1 collagen and calcium binding EGF domains 1
CCDC8 coiled-coil domain containing 8
CD96 CD96 molecule
CDC6 cell division cycle 6
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDT1 chromatin licensing and DNA replication factor 1
CEP57 centrosomal protein 57kDa
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
COMP cartilage oligomeric matrix protein
COX1
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
CREBBP CREB binding protein
CTNS cystinosin, lysosomal cystine transporter
CUL7 cullin 7
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DLX3 distal-less homeobox 3
DUSP6 dual specificity phosphatase 6
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EXT1 exostosin glycosyltransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FBN1 fibrillin 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FLNA filamin A, alpha
FLNB filamin B, beta
FLRT3 fibronectin leucine rich transmembrane protein 3
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
GBA glucosidase, beta, acid
GDF5 growth differentiation factor 5
GH1 growth hormone 1
GHR growth hormone receptor
GHRHR growth hormone releasing hormone receptor
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLI3 GLI family zinc finger 3
GPC3 glypican 3
GPC4 glypican 4
GPX4 glutathione peroxidase 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HRAS Harvey rat sarcoma viral oncogene homolog
HS6ST1 heparan sulfate 6-O-sulfotransferase 1
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPG2 heparan sulfate proteoglycan 2
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IHH indian hedgehog
IL17RD interleukin 17 receptor D
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
KAT6B K(lysine) acetyltransferase 6B
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KISS1R KISS1 receptor
KMT2A lysine (K)-specific methyltransferase 2A
KRAS Kirsten rat sarcoma viral oncogene homolog
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LRP5 low density lipoprotein receptor-related protein 5
MALT1 MALT1 paracaspase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MECP2 methyl CpG binding protein 2
MKRN3 makorin ring finger protein 3
MMP13 matrix metallopeptidase 13
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MVK mevalonate kinase
NBAS neuroblastoma amplified sequence
ND1
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX1 paired box 1
PAX8 paired box 8
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PEX1 peroxisomal biogenesis factor 1
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SBDS Shwachman-Bodian-Diamond syndrome
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SECISBP2 SECIS binding protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX6 SIX homeobox 6
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SPRY4 sprouty homolog 4 (Drosophila)
SRCAP Snf2-related CREBBP activator protein
TACR3 tachykinin receptor 3
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TRH thyrotropin-releasing hormone
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHR thyroid stimulating hormone receptor
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WDR11 WD repeat domain 11
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16