proximal muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A lack of strength of the proximal muscles. (Human Phenotype Ontology, HP_0003701)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003701
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Genes

106 genes associated with the proximal 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
ADCK3 aarF domain containing kinase 3
ANO5 anoctamin 5
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
CAV3 caveolin 3
CFL2 cofilin 2 (muscle)
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10
CHKB choline kinase beta
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CNBP CCHC-type zinc finger, nucleic acid binding protein
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COL9A3 collagen, type IX, alpha 3
CRYAB crystallin, alpha B
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DES desmin
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DOK7 docking protein 7
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNC filamin C, gamma
GAA glucosidase, alpha; acid
GAN gigaxonin
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GDAP1 ganglioside induced differentiation associated protein 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
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
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LBR lamin B receptor
LDB3 LIM domain binding 3
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
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
NEFL neurofilament, light polypeptide
OAT ornithine aminotransferase
OPA1 optic atrophy 1 (autosomal dominant)
PABPN1 poly(A) binding protein, nuclear 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT2 protein-O-mannosyltransferase 2
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRX periaxin
PTRF polymerase I and transcript release factor
RAB7A RAB7A, member RAS oncogene family
RAPSN receptor-associated protein of the synapse
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RYR1 ryanodine receptor 1 (skeletal)
SBF2 SET binding factor 2
SEPN1 selenoprotein N, 1
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
STIM1 stromal interaction molecule 1
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TCAP titin-cap
TFG TRK-fused gene
TK2 thymidine kinase 2, mitochondrial
TMEM43 transmembrane protein 43
TNXB tenascin XB
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRAPPC11 trafficking protein particle complex 11
TRDN triadin
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCP valosin containing protein