fatigable weakness Gene Set
Genes
14 genes associated with the fatigable weakness phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
| Symbol |
Name |
|
CHAT
|
choline O-acetyltransferase
|
|
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)
|
|
COLQ
|
collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase
|
|
DOK7
|
docking protein 7
|
|
GFPT1
|
glutamine--fructose-6-phosphate transaminase 1
|
|
KRT14
|
keratin 14, type I
|
|
KRT5
|
keratin 5, type II
|
|
MUSK
|
muscle, skeletal, receptor tyrosine kinase
|
|
PLEC
|
plectin
|
|
RAPSN
|
receptor-associated protein of the synapse
|
|
SCN4A
|
sodium channel, voltage gated, type IV alpha subunit
|
