Myopathies, Nemaline Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0206157
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Genes

46 genes associated with the disease Myopathies, Nemaline in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ACTA1 actin, alpha 1, skeletal muscle
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTN1 actinin, alpha 1
B3GNT1
C16ORF82 chromosome 16 open reading frame 82
CFL2 cofilin 2 (muscle)
CHKB choline kinase beta
CUL3 cullin 3
DES desmin
EIF3K eukaryotic translation initiation factor 3, subunit K
EMD emerin
FKRP fukutin related protein
FKTN fukutin
GJB6 gap junction protein, beta 6, 30kDa
HK1 hexokinase 1
ITGA7 integrin, alpha 7
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KLHL40 kelch-like family member 40
KLHL41 kelch-like family member 41
KLHL9 kelch-like family member 9
LARGE like-glycosyltransferase
LMNA lamin A/C
LMOD3 leiomodin 3 (fetal)
MCOLN1 mucolipin 1
MSTN myostatin
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO18B myosin XVIIIB
MYOT myotilin
MYPN myopalladin
NEB nebulin
NEFL neurofilament, light polypeptide
NRAP nebulin-related anchoring protein
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
RIF1 replication timing regulatory factor 1
RYR1 ryanodine receptor 1 (skeletal)
SRPK3 SRSF protein kinase 3
TNNT1 troponin T type 1 (skeletal, slow)
TNNT3 troponin T type 3 (skeletal, fast)
TPM1 tropomyosin 1 (alpha)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)