Potassium Aggravated Myotonia - Ontology Report

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:	Potassium Aggravated Myotonia	go back to main search page
Accession:	DOID:9005884	browse the term
Synonyms:	exact_synonym:	MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE; Myotonia congenita, acetazolamide-responsive; Myotonia congenita, atypical; SODIUM CHANNEL MUSCLE DISEASE; Sodium Channel Myotonia; myotonia fluctuans; myotonia permanens
	narrow_synonym:	MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC; SNEL
	primary_id:	MESH:C538353
	alt_id:	OMIM:608390

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Rat (2) Mouse (2) Human (230) Chinchilla (2) Bonobo (2) Dog (2) Squirrel (2) Pig (2) Green Monkey (2) Naked Mole-rat (1) All
Genes (2)

Potassium Aggravated Myotonia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Ranbp2

RAN binding protein 2

ISO

ClinVar Annotator: match by term: Potassium-aggravated myotonia

ClinVar

PMID:25741868

NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481

Scn4a

sodium voltage-gated channel alpha subunit 4

ISO

CTD Direct Evidence: marker/mechanism
DNA: missense mutation: exon : p.L1436P
ClinVar Annotator: match by term: Myotonia congenita, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia congenita, atypical, acetazolamide-responsive | ClinVar Annotator: match by term: Myotonia fluctuans | ClinVar Annotator: match by term: Potassium-aggravated myotonia

OMIM
CTD
ClinVar
RGD

PMID:1310898 PMID:1316765 PMID:1338909 PMID:1659948 PMID:1918277 More...

RGD:13208523

NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545

Term paths to the root

Path 1
Term	Annotations
disease	18969
physical disorder	4965
myotonia congenita	12
Potassium Aggravated Myotonia	2
Path 2
Term	Annotations
disease	18969
disease of anatomical entity	18248
nervous system disease	14089
peripheral nervous system disease	4120
neuropathy	3904
neuromuscular disease	3059
muscular disease	2147
muscle tissue disease	1293
atrophic muscular disease	603
muscular dystrophy	599
myotonic disease	32
myotonia congenita	12
Potassium Aggravated Myotonia	2

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InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

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Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

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MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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RGD DISEASE ONTOLOGY - ANNOTATIONS