Muscular Diseases Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
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Genes

69 genes associated with the Muscular Diseases phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABHD5 abhydrolase domain containing 5
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACE angiotensin I converting enzyme
ACTN3 actinin, alpha 3 (gene/pseudogene)
AGTR1 angiotensin II receptor, type 1
AMPD1 adenosine monophosphate deaminase 1
APOE apolipoprotein E
APTX aprataxin
AQP4 aquaporin 4
ATP2A1 ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP2A3 ATPase, Ca++ transporting, ubiquitous
ATP2B1 ATPase, Ca++ transporting, plasma membrane 1
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP2B4 ATPase, Ca++ transporting, plasma membrane 4
ATP2C1 ATPase, Ca++ transporting, type 2C, member 1
ATP2C2 ATPase, Ca++ transporting, type 2C, member 2
CAV3 caveolin 3
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT1B carnitine palmitoyltransferase 1B (muscle)
CPT2 carnitine palmitoyltransferase 2
CYP2C18 cytochrome P450, family 2, subfamily C, polypeptide 18
CYP2C8 cytochrome P450, family 2, subfamily C, polypeptide 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
DEFB1 defensin, beta 1
DENND2C DENN/MADD domain containing 2C
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
ESRRB estrogen-related receptor beta
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EYS eyes shut homolog (Drosophila)
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
GAA glucosidase, alpha; acid
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HTR3B 5-hydroxytryptamine (serotonin) receptor 3B, ionotropic
HTR7 5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGF2-AS IGF2 antisense RNA
IGFBP3 insulin-like growth factor binding protein 3
LPIN1 lipin 1
LPIN2 lipin 2
LPIN3 lipin 3
MEGF10 multiple EGF-like-domains 10
MT-TL1 tRNA
NOS3 nitric oxide synthase 3 (endothelial cell)
PNPLA2 patatin-like phospholipase domain containing 2
PYGM phosphorylase, glycogen, muscle
RMDN1 regulator of microtubule dynamics 1
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
RYR3 ryanodine receptor 3
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLCO1B1 solute carrier organic anion transporter family, member 1B1
TNF tumor necrosis factor
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT1A3 UDP glucuronosyltransferase 1 family, polypeptide A3