emg abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormal results of investigations using electromyography (EMG). (Human Phenotype Ontology, HP_0003457)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003457
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Genes

143 genes associated with the emg abnormality phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADCY6 adenylate cyclase 6
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANO5 anoctamin 5
APOA1 apolipoprotein A-I
ARSA arylsulfatase A
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
C10ORF2 chromosome 10 open reading frame 2
C5ORF42 chromosome 5 open reading frame 42
CASR calcium-sensing receptor
CAV3 caveolin 3
CEP126 centrosomal protein 126kDa
CHAT choline O-acetyltransferase
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCN1 chloride channel, voltage-sensitive 1
CNTNAP1 contactin associated protein 1
COL12A1 collagen, type XII, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COLQ collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
COX1
COX2
COX3
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCAF8 DDB1 and CUL4 associated factor 8
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DOLK dolichol kinase
DRD5 dopamine receptor D5
DSG2 desmoglein 2
DUX4 double homeobox 4
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
FHL2 four and a half LIM domains 2
FKRP fukutin related protein
FKTN fukutin
FRG1 FSHD region gene 1
FUS FUS RNA binding protein
GATAD1 GATA zinc finger domain containing 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDAP1 ganglioside induced differentiation associated protein 1
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GMPPB GDP-mannose pyrophosphorylase B
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPB8 heat shock 22kDa protein 8
HSPG2 heparan sulfate proteoglycan 2
IGHMBP2 immunoglobulin mu binding protein 2
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LMNA lamin A/C
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MAMLD1 mastermind-like domain containing 1
MT-ATP8 ATP synthase F0 subunit 8
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TP tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYOT myotilin
MYPN myopalladin
ND1
NEB nebulin
NEXN nexilin (F actin binding protein)
OAT ornithine aminotransferase
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLN phospholamban
POLG polymerase (DNA directed), gamma
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRDM16 PR domain containing 16
PSEN1 presenilin 1
PSEN2 presenilin 2
PUS1 pseudouridylate synthase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RBM20 RNA binding motif protein 20
RNR1 RNA, ribosomal cluster 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
SCN4A sodium channel, voltage gated, type IV alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPT9 septin 9
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMN1 survival of motor neuron 1, telomeric
SPG11 spastic paraplegia 11 (autosomal recessive)
TAZ tafazzin
TCAP titin-cap
TK2 thymidine kinase 2, mitochondrial
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TNPO3 transportin 3
TPM1 tropomyosin 1 (alpha)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TTN titin
TXNRD2 thioredoxin reductase 2
VAPB VAMP (vesicle-associated membrane protein)-associated protein B and C
VCL vinculin
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial