lower limb muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Weakness of the muscles of the legs. (Human Phenotype Ontology, HP_0007340)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0007340
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Genes

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

Symbol Name
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
ATL1 atlastin GTPase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCTN1 dynactin 1
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DYSF dysferlin
ERLIN2 ER lipid raft associated 2
FAM126A family with sequence similarity 126, member A
FBXO38 F-box protein 38
FHL1 four and a half LIM domains 1
GBA2 glucosidase, beta (bile acid) 2
HSPB3 heat shock 27kDa protein 3
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KIAA0196 KIAA0196
KIF1A kinesin family member 1A
KIF5A kinesin family member 5A
NF1 neurofibromin 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
PLP1 proteolipid protein 1
PRNP prion protein
REEP1 receptor accessory protein 1
RTN2 reticulon 2
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)
ZFYVE26 zinc finger, FYVE domain containing 26
ZFYVE27 zinc finger, FYVE domain containing 27