proximal muscle weakness in lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lack of strength of the proximal muscles of the legs. (Human Phenotype Ontology, HP_0008994)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0008994
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Genes

30 genes associated with the proximal muscle weakness in lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
CRYAB crystallin, alpha B
DES desmin
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EGR2 early growth response 2
FHL1 four and a half LIM domains 1
GDAP1 ganglioside induced differentiation associated protein 1
HINT1 histidine triad nucleotide binding protein 1
HSPB1 heat shock 27kDa protein 1
INF2 inverted formin, FH2 and WH2 domain containing
KARS lysyl-tRNA synthetase
KIF1B kinesin family member 1B
LBR lamin B receptor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYST lysosomal trafficking regulator
MFN2 mitofusin 2
MPZ myelin protein zero
NEFL neurofilament, light polypeptide
PMP22 peripheral myelin protein 22
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SBF2 SET binding factor 2
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
TCAP titin-cap
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin