abnormality of the musculature of the hand Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001421
Similar Terms
Downloads & Tools


20 genes associated with the abnormality of the musculature of the hand 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
FBXO38 F-box protein 38
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
GARS glycyl-tRNA synthetase
HOXA13 homeobox A13
KANSL1 KAT8 regulatory NSL complex subunit 1
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEFL neurofilament, light polypeptide
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
RPL11 ribosomal protein L11
SALL4 spalt-like transcription factor 4
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SPG11 spastic paraplegia 11 (autosomal recessive)
STIM1 stromal interaction molecule 1
TRPV4 transient receptor potential cation channel, subfamily V, member 4