distal upper limb amyotrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Muscular atrophy of distal arm muscles. (Human Phenotype Ontology, HP_0007149)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007149
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Genes

11 genes associated with the distal upper limb amyotrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
DCTN1 dynactin 1
FLNC filamin C, gamma
GARS glycyl-tRNA synthetase
INF2 inverted formin, FH2 and WH2 domain containing
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SPG11 spastic paraplegia 11 (autosomal recessive)
TRPV4 transient receptor potential cation channel, subfamily V, member 4