axonal dystrophy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description axon degeneration that may result from genetic abnormalities or inadequate or faulty metabolism (Mammalian Phenotype Ontology, MP_0003225)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003225
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Genes

13 gene mutations causing the axonal dystrophy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP8A2 ATPase, aminophospholipid transporter, class I, type 8A, member 2
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CHP1 calcineurin-like EF-hand protein 1
DOCK3 dedicator of cytokinesis 3
DST dystonin
KLC1 kinesin light chain 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SPTBN4 spectrin, beta, non-erythrocytic 4
UBE4B ubiquitination factor E4B
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UCHL3 ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)
USP14 ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)