short stride length Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description reduced average distance between steps (Mammalian Phenotype Ontology, MP_0001407)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0001407
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Genes

44 gene mutations causing the short stride length phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AGA aspartylglucosaminidase
ARSA arylsulfatase A
ATM ATM serine/threonine kinase
ATP13A2 ATPase type 13A2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CAV1 caveolin 1, caveolae protein, 22kDa
CLN3 ceroid-lipofuscinosis, neuronal 3
CPLX2 complexin 2
CTSF cathepsin F
DCTN1 dynactin 1
DMD dystrophin
EPB41L3 erythrocyte membrane protein band 4.1-like 3
FXR1 fragile X mental retardation, autosomal homolog 1
FZD4 frizzled class receptor 4
GLRA1 glycine receptor, alpha 1
GLRB glycine receptor, beta
GRID2 glutamate receptor, ionotropic, delta 2
HIP1 huntingtin interacting protein 1
HIPK2 homeodomain interacting protein kinase 2
HMBS hydroxymethylbilane synthase
HPRT1 hypoxanthine phosphoribosyltransferase 1
HTT huntingtin
IDS iduronate 2-sulfatase
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KL klotho
MCOLN1 mucolipin 1
MECP2 methyl CpG binding protein 2
NPAS3 neuronal PAS domain protein 3
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PLCB4 phospholipase C, beta 4
PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
PSAP prosaposin
RAC3 ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3)
RND3 Rho family GTPase 3
SEPP1 selenoprotein P, plasma, 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SPAST spastin
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
TPP1 tripeptidyl peptidase I
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)