skeletal muscle hypertrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells). (Human Phenotype Ontology, HP_0003712)
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64 genes associated with the skeletal muscle hypertrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ANO5 anoctamin 5
AR androgen receptor
ARSB arylsulfatase B
ATRX alpha thalassemia/mental retardation syndrome X-linked
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLCN1 chloride channel, voltage-sensitive 1
CUL4B cullin 4B
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FKRP fukutin related protein
FKTN fukutin
FOS FBJ murine osteosarcoma viral oncogene homolog
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
GAA glucosidase, alpha; acid
GATA1 GATA binding protein 1 (globin transcription factor 1)
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HEXB hexosaminidase B (beta polypeptide)
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
LARGE like-glycosyltransferase
LMNA lamin A/C
MAN2B1 mannosidase, alpha, class 2B, member 1
MECP2 methyl CpG binding protein 2
MSTN myostatin
NSD1 nuclear receptor binding SET domain protein 1
PAX8 paired box 8
PEX1 peroxisomal biogenesis factor 1
PLIN1 perilipin 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU1F1 POU class 1 homeobox 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTRF polymerase I and transcript release factor
RASA1 RAS p21 protein activator (GTPase activating protein) 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SETBP1 SET binding protein 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SHOX short stature homeobox
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SMAD4 SMAD family member 4
SNIP1 Smad nuclear interacting protein 1
TCAP titin-cap
THRA thyroid hormone receptor, alpha
TRAF3IP2 TRAF3 interacting protein 2
TSHB thyroid stimulating hormone, beta
TTN titin
UBE3A ubiquitin protein ligase E3A
WNT5A wingless-type MMTV integration site family, member 5A
ZEB2 zinc finger E-box binding homeobox 2