Myotonia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. (Human Phenotype Ontology, HP_0002486)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:D009222
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Genes

3 genes/proteins associated with the disease Myotonia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
MBNL1 muscleblind-like splicing regulator 1 2.88009
DMPK dystrophia myotonica-protein kinase 2.88009
SCN4A sodium channel, voltage gated, type IV alpha subunit 2.88009