lower extremity joint dislocation Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Displacement or malalignment of one or more joints in the lower extremity (leg). (Human Phenotype Ontology, HP_0030311)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0030311
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Genes

95 genes associated with the lower extremity joint dislocation phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
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
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLEC11 collectin sub-family member 11
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
EBP emopamil binding protein (sterol isomerase)
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ELN elastin
ERCC1 excision repair cross-complementation group 1
EXOSC3 exosome component 3
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN2 fibrillin 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FLNA filamin A, alpha
FLNB filamin B, beta
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GP1BB glycoprotein Ib (platelet), beta polypeptide
GSC goosecoid homeobox
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HIRA histone cell cycle regulator
HOXA11 homeobox A11
HSPG2 heparan sulfate proteoglycan 2
IMPAD1 inositol monophosphatase domain containing 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KIF22 kinesin family member 22
KMT2D lysine (K)-specific methyltransferase 2D
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKKS McKusick-Kaufman syndrome
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NOTCH2 notch 2
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHROOM4 shroom family member 4
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX4 T-box 4
THRA thyroid hormone receptor, alpha
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
XYLT1 xylosyltransferase I
ZC4H2 zinc finger, C4H2 domain containing
ZNF469 zinc finger protein 469