abnormality of skeletal physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the function of the skeletal system. (Human Phenotype Ontology, HP_0011843)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011843
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Genes

333 genes associated with the abnormality of skeletal physiology 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
AGXT alanine-glyoxylate aminotransferase
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALMS1 Alstrom syndrome protein 1
ALPL alkaline phosphatase, liver/bone/kidney
ANKRD11 ankyrin repeat domain 11
ANO5 anoctamin 5
ANOS1 anosmin 1
ANTXR1 anthrax toxin receptor 1
ANTXR2 anthrax toxin receptor 2
ARID1B AT rich interactive domain 1B (SWI1-like)
ATL3 atlastin GTPase 3
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
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
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
CANT1 calcium activated nucleotidase 1
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCBE1 collagen and calcium binding EGF domains 1
CCDC8 coiled-coil domain containing 8
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
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
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCN5 chloride channel, voltage-sensitive 5
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 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
CRTAP cartilage associated protein
CTC1 CTS telomere maintenance complex component 1
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CTSK cathepsin K
CUL7 cullin 7
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
CYP2R1 cytochrome P450, family 2, subfamily R, polypeptide 1
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX3 distal-less homeobox 3
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DUSP6 dual specificity phosphatase 6
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
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
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM134B family with sequence similarity 134, member B
FBLN5 fibulin 5
FBN1 fibrillin 1
FEZF1 FEZ family zinc finger 1
FGF17 fibroblast growth factor 17
FGF23 fibroblast growth factor 23
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
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
FZD4 frizzled class receptor 4
GATA1 GATA binding protein 1 (globin transcription factor 1)
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
GK glycerol kinase
GLE1 GLE1 RNA export mediator
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
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)
HBB hemoglobin, beta
HDAC8 histone deacetylase 8
HESX1 HESX homeobox 1
HLA-B major histocompatibility complex, class I, B
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
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
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IFITM5 interferon induced transmembrane protein 5
IFNGR1 interferon gamma receptor 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IHH indian hedgehog
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL17RD interleukin 17 receptor D
IL23R interleukin 23 receptor
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
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX4 LIM homeobox 4
LIFR leukemia inhibitory factor receptor alpha
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LPIN2 lipin 2
LRP5 low density lipoprotein receptor-related protein 5
LRRC8A leucine rich repeat containing 8 family, member A
MALT1 MALT1 paracaspase
MBTPS2 membrane-bound transcription factor peptidase, site 2
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MKRN3 makorin ring finger protein 3
MMP13 matrix metallopeptidase 13
MOGS mannosyl-oligosaccharide glucosidase
MPV17 MpV17 mitochondrial inner membrane protein
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
MTAP methylthioadenosine phosphorylase
MVK mevalonate kinase
NBAS neuroblastoma amplified sequence
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
ND1
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NGF nerve growth factor (beta polypeptide)
NHP2 NHP2 ribonucleoprotein
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NME1 NME/NM23 nucleoside diphosphate kinase 1
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
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
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
P3H1 prolyl 3-hydroxylase 1
PAX1 paired box 1
PAX8 paired box 8
PCNT pericentrin
PDE11A phosphodiesterase 11A
PDE4D phosphodiesterase 4D, cAMP-specific
PDE8B phosphodiesterase 8B
PEX1 peroxisomal biogenesis factor 1
PHEX phosphate regulating endopeptidase homolog, X-linked
PHF6 PHD finger protein 6
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
POLE polymerase (DNA directed), epsilon, catalytic subunit
PPIB peptidylprolyl isomerase B (cyclophilin B)
PRDM5 PR domain containing 5
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
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)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SCARF2 scavenger receptor class F, member 2
SCN9A sodium channel, voltage gated, type IX alpha subunit
SECISBP2 SECIS binding protein 2
SEMA3A sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX6 SIX homeobox 6
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC34A3 solute carrier family 34 (type II sodium/phosphate cotransporter), member 3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLC9A3R1 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SMAD3 SMAD family member 3
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
SMS spermine synthase
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX9 SRY (sex determining region Y)-box 9
SPRY4 sprouty homolog 4 (Drosophila)
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
SQSTM1 sequestosome 1
SRCAP Snf2-related CREBBP activator protein
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
TACR3 tachykinin receptor 3
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TLR4 toll-like receptor 4
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TRH thyrotropin-releasing hormone
TRIP11 thyroid hormone receptor interactor 11
TRPS1 trichorhinophalangeal syndrome I
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSHR thyroid stimulating hormone receptor
TYROBP TYRO protein tyrosine kinase binding protein
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDR11 WD repeat domain 11
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNK1 WNK lysine deficient protein kinase 1
WNT1 wingless-type MMTV integration site family, member 1
WNT3A wingless-type MMTV integration site family, member 3A
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
XYLT1 xylosyltransferase I
ZBTB16 zinc finger and BTB domain containing 16
ZNF469 zinc finger protein 469