waddling gait Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002515
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Genes

41 genes associated with the waddling gait phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACAN aggrecan
ACTA1 actin, alpha 1, skeletal muscle
ALPL alkaline phosphatase, liver/bone/kidney
AP4B1 adaptor-related protein complex 4, beta 1 subunit
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
CANT1 calcium activated nucleotidase 1
CHKB choline kinase beta
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
COL10A1 collagen, type X, alpha 1
COL2A1 collagen, type II, alpha 1
COL9A2 collagen, type IX, alpha 2
COMP cartilage oligomeric matrix protein
DMD dystrophin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DOK7 docking protein 7
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EMD emerin
FGD4 FYVE, RhoGEF and PH domain containing 4
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FLNC filamin C, gamma
GFPT1 glutamine--fructose-6-phosphate transaminase 1
MATN3 matrilin 3
MMP13 matrix metallopeptidase 13
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
NOG noggin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
POC1A POC1 centriolar protein A
PTH1R parathyroid hormone 1 receptor
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
TGFB1 transforming growth factor, beta 1
TPM2 tropomyosin 2 (beta)
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
WISP3 WNT1 inducible signaling pathway protein 3