limb muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced strength and weakness of the muscles of the arms and legs. (Human Phenotype Ontology, HP_0003690)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003690
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Genes

83 genes associated with the limb muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ACTA1 actin, alpha 1, skeletal muscle
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
AR androgen receptor
ATL1 atlastin GTPase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
CAV1 caveolin 1, caveolae protein, 22kDa
CD59 CD59 molecule, complement regulatory protein
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
CRYAB crystallin, alpha B
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCTN1 dynactin 1
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DES desmin
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
ERLIN2 ER lipid raft associated 2
FAM126A family with sequence similarity 126, member A
FBXO38 F-box protein 38
FGD4 FYVE, RhoGEF and PH domain containing 4
FHL1 four and a half LIM domains 1
GARS glycyl-tRNA synthetase
GBA2 glucosidase, beta (bile acid) 2
GDAP1 ganglioside induced differentiation associated protein 1
HINT1 histidine triad nucleotide binding protein 1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IGHMBP2 immunoglobulin mu binding protein 2
INF2 inverted formin, FH2 and WH2 domain containing
KARS lysyl-tRNA synthetase
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF5A kinesin family member 5A
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
MTAP methylthioadenosine phosphorylase
NEB nebulin
NEFL neurofilament, light polypeptide
NF1 neurofibromin 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
PABPN1 poly(A) binding protein, nuclear 1
PHYH phytanoyl-CoA 2-hydroxylase
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PRNP prion protein
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
REEP1 receptor accessory protein 1
RTN2 reticulon 2
SBF2 SET binding factor 2
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPG21 spastic paraplegia 21 (autosomal recessive, Mast syndrome)
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
TCAP titin-cap
TK2 thymidine kinase 2, mitochondrial
TPM2 tropomyosin 2 (beta)
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
VCP valosin containing protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
YARS tyrosyl-tRNA synthetase
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27