abnormality of the musculature of the lower limbs Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001437
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Genes

49 genes associated with the abnormality of the musculature of the lower limbs phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ANO5 anoctamin 5
AR androgen receptor
ATRX alpha thalassemia/mental retardation syndrome X-linked
CAV3 caveolin 3
CLCN1 chloride channel, voltage-sensitive 1
CRYAB crystallin, alpha B
DES desmin
DMD dystrophin
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
EGR2 early growth response 2
FBN2 fibrillin 2
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GDAP1 ganglioside induced differentiation associated protein 1
HINT1 histidine triad nucleotide binding protein 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HSPB1 heat shock 27kDa protein 1
INF2 inverted formin, FH2 and WH2 domain containing
KARS lysyl-tRNA synthetase
KDM5C lysine (K)-specific demethylase 5C
KIF1B kinesin family member 1B
LBR lamin B receptor
LMNA lamin A/C
LMX1B LIM homeobox transcription factor 1, beta
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
LYST lysosomal trafficking regulator
MFN2 mitofusin 2
MPZ myelin protein zero
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEFL neurofilament, light polypeptide
PMP22 peripheral myelin protein 22
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
SBF2 SET binding factor 2
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
TCAP titin-cap
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
VAMP1 vesicle-associated membrane protein 1 (synaptobrevin 1)