abnormal pns synaptic transmission Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly in the communication from a neuron to a target across a synapse in the peripheral nervous system. (Human Phenotype Ontology, HP_0030191)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002913
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Genes

29 gene mutations causing the abnormal pns synaptic transmission phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CHAT choline O-acetyltransferase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
COL13A1 collagen, type XIII, alpha 1
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
GARS glycyl-tRNA synthetase
HSPG2 heparan sulfate proteoglycan 2
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LAMB2 laminin, beta 2 (laminin S)
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MMP3 matrix metallopeptidase 3
MUSK muscle, skeletal, receptor tyrosine kinase
NBEA neurobeachin
NRG1 neuregulin 1
PRKCQ protein kinase C, theta
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SLC18A3 solute carrier family 18 (vesicular acetylcholine transporter), member 3
SMN1 survival of motor neuron 1, telomeric
SNAP25 synaptosomal-associated protein, 25kDa
SYT2 synaptotagmin II
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)
UTRN utrophin