abnormality of muscle fibers Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the skeletal muscle cell. Muscle fibers are subdivided into two types. Type I fibers are fatigue-resistant and rich in oxidative enzymes (they stain light with the myosin ATPase reaction), and type II fibers are fast-contracting, fatigue-prone, and rich in glycolytic enzymes (these fibers stain darkly). Normal muscle tissue has a random distribution of type I and type II fibers. (Human Phenotype Ontology, HP_0004303)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0004303
Similar Terms
Downloads & Tools

Genes

80 genes associated with the abnormality of muscle fibers phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
ADCK3 aarF domain containing kinase 3
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
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
COA5 cytochrome c oxidase assembly factor 5
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNM2 dynamin 2
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EMD emerin
ENO3 enolase 3 (beta, muscle)
FASTKD2 FAST kinase domains 2
FHL1 four and a half LIM domains 1
FLNC filamin C, gamma
GLI3 GLI family zinc finger 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GYS1 glycogen synthase 1 (muscle)
ISCU iron-sulfur cluster assembly enzyme
ITGA7 integrin, alpha 7
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
LDB3 LIM domain binding 3
MATR3 matrin 3
MUSK muscle, skeletal, receptor tyrosine kinase
MYF6 myogenic factor 6 (herculin)
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
NEB nebulin
OPA1 optic atrophy 1 (autosomal dominant)
PET100 PET100 homolog (S. cerevisiae)
PFKM phosphofructokinase, muscle
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
RAPSN receptor-associated protein of the synapse
RYR1 ryanodine receptor 1 (skeletal)
SARS2 seryl-tRNA synthetase 2, mitochondrial
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIL1 SIL1 nucleotide exchange factor
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
STIM1 stromal interaction molecule 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TCAP titin-cap
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TNNT1 troponin T type 1 (skeletal, slow)
TNPO3 transportin 3
TNXB tenascin XB
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TYMP thymidine phosphorylase
VCP valosin containing protein