hindlimb paralysis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description loss of power of voluntary movement in the muscles of the hindlimb through injury or disease of it or its nerve supply (Mammalian Phenotype Ontology, MP_0000755)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000755
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Genes

59 gene mutations causing the hindlimb paralysis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AIRE autoimmune regulator
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BTD biotinidase
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CD86 CD86 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
COL1A1 collagen, type I, alpha 1
COQ9 coenzyme Q9
CYCS cytochrome c, somatic
DBNL drebrin-like
DLL3 delta-like 3 (Drosophila)
EGR2 early growth response 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
FA2H fatty acid 2-hydroxylase
FKBP8 FK506 binding protein 8, 38kDa
GAA glucosidase, alpha; acid
GALC galactosylceramidase
GPR161 G protein-coupled receptor 161
HEXB hexosaminidase B (beta polypeptide)
IFIT2 interferon-induced protein with tetratricopeptide repeats 2
IGHMBP2 immunoglobulin mu binding protein 2
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
L1CAM L1 cell adhesion molecule
LAMA2 laminin, alpha 2
LBX1 ladybird homeobox 1
LTBP3 latent transforming growth factor beta binding protein 3
MAP1B microtubule-associated protein 1B
MBP myelin basic protein
MCOLN1 mucolipin 1
MPZ myelin protein zero
MTM1 myotubularin 1
MYH4 myosin, heavy chain 4, skeletal muscle
NDRG1 N-myc downstream regulated 1
NOTO notochord homeobox
NR1H2 nuclear receptor subfamily 1, group H, member 2
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PPT1 palmitoyl-protein thioesterase 1
PSAP prosaposin
PSEN1 presenilin 1
RORA RAR-related orphan receptor A
RYR1 ryanodine receptor 1 (skeletal)
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCYL1 SCY1-like 1 (S. cerevisiae)
SUZ12 SUZ12 polycomb repressive complex 2 subunit
TACC3 transforming, acidic coiled-coil containing protein 3
TENM4 teneurin transmembrane protein 4
TWSG1 twisted gastrulation BMP signaling modulator 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8 UDP glycosyltransferase 8
VEGFA vascular endothelial growth factor A
WNT3A wingless-type MMTV integration site family, member 3A
ZIC2 Zic family member 2
ZNF106 zinc finger protein 106