distal muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Reduced strength of the musculature of the distal extremities. (Human Phenotype Ontology, HP_0002460)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002460
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Genes

77 genes associated with the distal 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
ANG angiogenin, ribonuclease, RNase A family, 5
ANO5 anoctamin 5
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BIN1 bridging integrator 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C19ORF12 chromosome 19 open reading frame 12
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRYAB crystallin, alpha B
DCAF8 DDB1 and CUL4 associated factor 8
DCTN1 dynactin 1
DES desmin
DNM2 dynamin 2
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EGR2 early growth response 2
FGD4 FYVE, RhoGEF and PH domain containing 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
GAN gigaxonin
GARS glycyl-tRNA synthetase
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GRIA3 glutamate receptor, ionotropic, AMPA 3
HK1 hexokinase 1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
IGHMBP2 immunoglobulin mu binding protein 2
INF2 inverted formin, FH2 and WH2 domain containing
KIF1B kinesin family member 1B
LDB3 LIM domain binding 3
LITAF lipopolysaccharide-induced TNF factor
LMNA lamin A/C
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MATR3 matrin 3
MED25 mediator complex subunit 25
MFN2 mitofusin 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MTMR2 myotubularin related protein 2
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NAGA N-acetylgalactosaminidase, alpha-
NDRG1 N-myc downstream regulated 1
NEB nebulin
NEFL neurofilament, light polypeptide
PABPN1 poly(A) binding protein, nuclear 1
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PMP22 peripheral myelin protein 22
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PRX periaxin
RAB7A RAB7A, member RAS oncogene family
REEP1 receptor accessory protein 1
SACS sacsin molecular chaperone
SBF2 SET binding factor 2
SETX senataxin
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SOX10 SRY (sex determining region Y)-box 10
SPTLC1 serine palmitoyltransferase, long chain base subunit 1
SPTLC2 serine palmitoyltransferase, long chain base subunit 2
TCAP titin-cap
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TNPO3 transportin 3
TPM3 tropomyosin 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TYMP thymidine phosphorylase
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
YARS tyrosyl-tRNA synthetase