Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Jump to:
Spinner 000000 16px loading...
Preferred Name

SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT
Synonyms

PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA
ID

http://purl.bioontology.org/ontology/OMIM/603967
altLabel

PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA

MYASTHENIC SYNDROME, CONGENITAL, 16

MYOTONIA, POTASSIUM-AGGRAVATED

NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE

VARIANT OF UNKNOWN SIGNIFICANCE

MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE

SCN4A

PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS

HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2

MYOTONIA CONGENITA, ATYPICAL

MYOTONIA PERMANENS

HYPERKALEMIC PERIODIC PARALYSIS

MYOTONIA FLUCTUANS

PARAMYOTONIA CONGENITA

NAV1.4
cui

C4016868

C0221055

C0752355

C1868433

C4016869

C1419862

C2750061

C1858891

C3280112

C2986382

C2931826

C0238357
Gene Locus

17q23.1-q25.3
Gene Symbol

CMS16

SCN4A

HOKPP2

HYPP

NAC1A
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603967.0019

http://purl.bioontology.org/ontology/OMIM/603967.0020

http://purl.bioontology.org/ontology/OMIM/603967.0033

http://purl.bioontology.org/ontology/OMIM/603967.0013

http://purl.bioontology.org/ontology/OMIM/603967.0021

http://purl.bioontology.org/ontology/OMIM/603967.0001

http://purl.bioontology.org/ontology/OMIM/603967.0003

http://purl.bioontology.org/ontology/OMIM/603967.0022

http://purl.bioontology.org/ontology/OMIM/603967.0002

http://purl.bioontology.org/ontology/OMIM/603967.0015

http://purl.bioontology.org/ontology/OMIM/603967.0014

http://purl.bioontology.org/ontology/OMIM/603967.0016

http://purl.bioontology.org/ontology/OMIM/603967.0026

http://purl.bioontology.org/ontology/OMIM/603967.0028

http://purl.bioontology.org/ontology/OMIM/603967.0008

http://purl.bioontology.org/ontology/OMIM/603967.0027

http://purl.bioontology.org/ontology/OMIM/603967.0029

http://purl.bioontology.org/ontology/OMIM/603967.0009

http://purl.bioontology.org/ontology/OMIM/603967.0007

http://purl.bioontology.org/ontology/OMIM/603967.0011

http://purl.bioontology.org/ontology/OMIM/603967.0030

http://purl.bioontology.org/ontology/OMIM/603967.0010

http://purl.bioontology.org/ontology/OMIM/603967.0023

http://purl.bioontology.org/ontology/OMIM/603967.0024

http://purl.bioontology.org/ontology/OMIM/603967.0004

http://purl.bioontology.org/ontology/OMIM/603967.0005

http://purl.bioontology.org/ontology/OMIM/603967.0032

http://purl.bioontology.org/ontology/OMIM/603967.0031

http://purl.bioontology.org/ontology/OMIM/603967.0012

http://purl.bioontology.org/ontology/OMIM/603967.0018

http://purl.bioontology.org/ontology/OMIM/603967.0025

http://purl.bioontology.org/ontology/OMIM/603967.0006

http://purl.bioontology.org/ontology/OMIM/603967.0017
MIMTYPEMEANING

Gene with known sequence
notation

603967
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT
tui

T028

T019

T033

T086

T047
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D020513 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567635 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D020967 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D020967 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C538353 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G72.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C566809 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP97962-2 Logical Observation Identifier Names and Codes CUI