muscular dystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A myopathy is characterized by progressive skeletal muscle weakness degeneration. (Human Disease Ontology, DOID_9884)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003560
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Genes

36 genes associated with the muscular dystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANO5 anoctamin 5
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
BAG3 BCL2-associated athanogene 3
CHKB choline kinase beta
CRYAB crystallin, alpha B
DMD dystrophin
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYSF dysferlin
FKRP fukutin related protein
FKTN fukutin
GK glycerol kinase
GMPPB GDP-mannose pyrophosphorylase B
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
ISPD isoprenoid synthase domain containing
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LMNA lamin A/C
MYOT myotilin
NR0B1 nuclear receptor subfamily 0, group B, member 1
PLEC plectin
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTRF polymerase I and transcript release factor
RYR1 ryanodine receptor 1 (skeletal)
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SYNE2 spectrin repeat containing, nuclear envelope 2
TCAP titin-cap
TMEM43 transmembrane protein 43
TNPO3 transportin 3
TRIM32 tripartite motif containing 32
TTN titin