paraparesis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Weakness or partial paralysis in the lower limbs. (Human Phenotype Ontology, HP_0002385)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009434
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Genes

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

Symbol Name
AGRN agrin
AGTPBP1 ATP/GTP binding protein 1
ARHGAP10 Rho GTPase activating protein 10
CHKB choline kinase beta
CLCN1 chloride channel, voltage-sensitive 1
CTSF cathepsin F
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
GABPB1 GA binding protein transcription factor, beta subunit 1
GALC galactosylceramidase
GRIA2 glutamate receptor, ionotropic, AMPA 2
LAMC1 laminin, gamma 1 (formerly LAMB2)
LTN1 listerin E3 ubiquitin protein ligase 1
LYST lysosomal trafficking regulator
MET MET proto-oncogene, receptor tyrosine kinase
NDRG1 N-myc downstream regulated 1
PLP1 proteolipid protein 1
PSAP prosaposin
QKI QKI, KH domain containing, RNA binding
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMN1 survival of motor neuron 1, telomeric
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPTBN4 spectrin, beta, non-erythrocytic 4
SYNE1 spectrin repeat containing, nuclear envelope 1
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)