gowers sign Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs. (Human Phenotype Ontology, HP_0003391)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003391
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Genes

28 genes associated with the gowers sign phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BICD2 bicaudal D homolog 2 (Drosophila)
BIN1 bridging integrator 1
CAV3 caveolin 3
CFL2 cofilin 2 (muscle)
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)
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DOK7 docking protein 7
FKTN fukutin
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GFPT1 glutamine--fructose-6-phosphate transaminase 1
MUSK muscle, skeletal, receptor tyrosine kinase
PLEC plectin
PNPLA2 patatin-like phospholipase domain containing 2
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RAPSN receptor-associated protein of the synapse
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
TK2 thymidine kinase 2, mitochondrial
TPM2 tropomyosin 2 (beta)
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4