joint laxity Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Lack of stability of a joint. (Human Phenotype Ontology, HP_0001388)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001388
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Genes

67 genes associated with the joint laxity phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
CANT1 calcium activated nucleotidase 1
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL5A1 collagen, type V, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COMP cartilage oligomeric matrix protein
CREBBP CREB binding protein
CUL4B cullin 4B
DCHS1 dachsous cadherin-related 1
EFNB1 ephrin-B1
FAT4 FAT atypical cadherin 4
FBLN5 fibulin 5
FKBP10 FK506 binding protein 10, 65 kDa
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GATA1 GATA binding protein 1 (globin transcription factor 1)
GLB1 galactosidase, beta 1
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF22 kinesin family member 22
LTBP4 latent transforming growth factor beta binding protein 4
MED12 mediator complex subunit 12
NOTCH2 notch 2
NPR2 natriuretic peptide receptor 2
NSD1 nuclear receptor binding SET domain protein 1
ORC1 origin recognition complex, subunit 1
OTX2 orthodenticle homeobox 2
P3H1 prolyl 3-hydroxylase 1
PAX2 paired box 2
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
PORCN porcupine homolog (Drosophila)
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SEC23A Sec23 homolog A (S. cerevisiae)
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SKI SKI proto-oncogene
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SRCAP Snf2-related CREBBP activator protein
TCTN3 tectonic family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM165 transmembrane protein 165
TNXB tenascin XB
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
UBR1 ubiquitin protein ligase E3 component n-recognin 1
WDR35 WD repeat domain 35
XYLT1 xylosyltransferase I
ZNF469 zinc finger protein 469