abnormality of the clavicle Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the clavicles (collar bones). (Human Phenotype Ontology, HP_0000889)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000889
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Genes

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

Symbol Name
AMER1 APC membrane recruitment protein 1
ANTXR1 anthrax toxin receptor 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BANF1 barrier to autointegration factor 1
BCOR BCL6 corepressor
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL11A1 collagen, type XI, alpha 1
CTSK cathepsin K
DCHS1 dachsous cadherin-related 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EFNB1 ephrin-B1
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
HOXD13 homeobox D13
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT80 intraflagellar transport 80
KIF7 kinesin family member 7
LBR lamin B receptor
LMNA lamin A/C
LRP5 low density lipoprotein receptor-related protein 5
MSX2 msh homeobox 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NSDHL NAD(P) dependent steroid dehydrogenase-like
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAX1 paired box 1
PCNT pericentrin
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PORCN porcupine homolog (Drosophila)
PTDSS1 phosphatidylserine synthase 1
PTH1R parathyroid hormone 1 receptor
RBM8A RNA binding motif protein 8A
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RUNX2 runt-related transcription factor 2
SALL4 spalt-like transcription factor 4
SCARF2 scavenger receptor class F, member 2
SETBP1 SET binding protein 1
SKI SKI proto-oncogene
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SRCAP Snf2-related CREBBP activator protein
TBCE tubulin folding cofactor E
TBX15 T-box 15
TBX3 T-box 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TRIP11 thyroid hormone receptor interactor 11
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTC21B tetratricopeptide repeat domain 21B
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZMPSTE24 zinc metallopeptidase STE24