lower limb muscle weakness Gene Set
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
|
