paralysis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement. (Human Phenotype Ontology, HP_0003470)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000753
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Genes

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

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
AIRE autoimmune regulator
ASPA aspartoacylase
ATP1B2 ATPase, Na+/K+ transporting, beta 2 polypeptide
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BTD biotinidase
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CD86 CD86 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CLP1 cleavage and polyadenylation factor I subunit 1
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
COL1A1 collagen, type I, alpha 1
COQ9 coenzyme Q9
CTH cystathionine gamma-lyase
CX3CR1 chemokine (C-X3-C motif) receptor 1
CYCS cytochrome c, somatic
DBNL drebrin-like
DLL3 delta-like 3 (Drosophila)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
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
GLB1 galactosidase, beta 1
GPR161 G protein-coupled receptor 161
HEXB hexosaminidase B (beta polypeptide)
HOXA1 homeobox A1
HOXB1 homeobox B1
HOXB2 homeobox B2
HTT huntingtin
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
LTN1 listerin E3 ubiquitin protein ligase 1
MAP1B microtubule-associated protein 1B
MAPK6 mitogen-activated protein kinase 6
MBP myelin basic protein
MCOLN1 mucolipin 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MPZ myelin protein zero
MTM1 myotubularin 1
MYH4 myosin, heavy chain 4, skeletal muscle
NDRG1 N-myc downstream regulated 1
NFASC neurofascin
NKX6-1 NK6 homeobox 1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOTO notochord homeobox
NR1H2 nuclear receptor subfamily 1, group H, member 2
PGAP3 post-GPI attachment to proteins 3
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
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
TBCE tubulin folding cofactor E
TENM4 teneurin transmembrane protein 4
TMEM8C transmembrane protein 8C
TOP2B topoisomerase (DNA) II beta 180kDa
TWSG1 twisted gastrulation BMP signaling modulator 1
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UGT8 UDP glycosyltransferase 8
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
VEGFA vascular endothelial growth factor A
VPS54 vacuolar protein sorting 54 homolog (S. cerevisiae)
WNT3A wingless-type MMTV integration site family, member 3A
ZIC2 Zic family member 2
ZNF106 zinc finger protein 106