respiratory insufficiency due to muscle weakness Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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48 genes associated with the respiratory insufficiency due to muscle weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BIN1 bridging integrator 1
CFL2 cofilin 2 (muscle)
CHAT choline O-acetyltransferase
CHMP2B charged multivesicular body protein 2B
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CNTN1 contactin 1
COA5 cytochrome c oxidase assembly factor 5
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
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX20 COX20 cytochrome c oxidase assembly factor
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CRYAB crystallin, alpha B
DES desmin
DOK7 docking protein 7
ERBB4 erb-b2 receptor tyrosine kinase 4
FASTKD2 FAST kinase domains 2
FHL1 four and a half LIM domains 1
GAA glucosidase, alpha; acid
LAMA2 laminin, alpha 2
LMNA lamin A/C
MATR3 matrin 3
MUSK muscle, skeletal, receptor tyrosine kinase
NEB nebulin
PET100 PET100 homolog (S. cerevisiae)
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
POLG polymerase (DNA directed), gamma
POMK protein-O-mannose kinase
RAPSN receptor-associated protein of the synapse
SEPN1 selenoprotein N, 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TARDBP TAR DNA binding protein
TK2 thymidine kinase 2, mitochondrial
TNPO3 transportin 3
TPI1 triosephosphate isomerase 1
TPM3 tropomyosin 3
UBA1 ubiquitin-like modifier activating enzyme 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial