abnormality of the hip joint Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the hip joint. (Human Phenotype Ontology, HP_0001384)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001384
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Genes

97 genes associated with the abnormality of the hip joint 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
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSB arylsulfatase B
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
C12ORF57 chromosome 12 open reading frame 57
CANT1 calcium activated nucleotidase 1
CD96 CD96 molecule
CENPJ centromere protein J
CHRM3 cholinergic receptor, muscarinic 3
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL10A1 collagen, type X, alpha 1
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
COL9A3 collagen, type IX, alpha 3
COLEC11 collectin sub-family member 11
CRTAP cartilage associated protein
CUL7 cullin 7
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DHODH dihydroorotate dehydrogenase (quinone)
DYM dymeclin
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ERCC1 excision repair cross-complementation group 1
EXOSC3 exosome component 3
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FIG4 FIG4 phosphoinositide 5-phosphatase
FKBP10 FK506 binding protein 10, 65 kDa
FLNA filamin A, alpha
FLNB filamin B, beta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF5 growth differentiation factor 5
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GLI3 GLI family zinc finger 3
GLRA1 glycine receptor, alpha 1
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSC goosecoid homeobox
GUSB glucuronidase, beta
HOXA11 homeobox A11
HSPG2 heparan sulfate proteoglycan 2
HYAL1 hyaluronoglucosaminidase 1
INPPL1 inositol polyphosphate phosphatase-like 1
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KIF22 kinesin family member 22
KMT2D lysine (K)-specific methyltransferase 2D
MATN3 matrilin 3
MBTPS2 membrane-bound transcription factor peptidase, site 2
MKKS McKusick-Kaufman syndrome
MMP2 matrix metallopeptidase 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
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
RAB23 RAB23, member RAS oncogene family
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SERPINF1 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHROOM4 shroom family member 4
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SMAD3 SMAD family member 3
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMOC1 SPARC related modular calcium binding 1
SOX9 SRY (sex determining region Y)-box 9
THRA thyroid hormone receptor, alpha
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UBE3B ubiquitin protein ligase E3B
WDR60 WD repeat domain 60
WNT7A wingless-type MMTV integration site family, member 7A
ZC4H2 zinc finger, C4H2 domain containing
ZNF469 zinc finger protein 469