Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 4
Synonyms	MYOTONIA CONGENITA, ATYPICAL PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA MYASTHENIC SYNDROME, CONGENITAL, 16 MYOTONIA PERMANENS PARAMYOTONIA CONGENITA HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 CONGENITAL MYOPATHY 22B, SEVERE FETAL MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE HYPERKALEMIC PERIODIC PARALYSIS MYOTONIA FLUCTUANS MYOTONIA, POTASSIUM-AGGRAVATED NAV1.4 CONGENITAL MYOPATHY 22A, CLASSIC SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT SCN4A PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
ID	http://purl.bioontology.org/ontology/OMIM/603967
altLabel	MYOTONIA CONGENITA, ATYPICAL PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA MYASTHENIC SYNDROME, CONGENITAL, 16 MYOTONIA PERMANENS PARAMYOTONIA CONGENITA HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2 CONGENITAL MYOPATHY 22B, SEVERE FETAL MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE HYPERKALEMIC PERIODIC PARALYSIS MYOTONIA FLUCTUANS MYOTONIA, POTASSIUM-AGGRAVATED NAV1.4 CONGENITAL MYOPATHY 22A, CLASSIC SODIUM CHANNEL, VOLTAGE-GATED, TYPE IV, ALPHA SUBUNIT SCN4A PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
cui	C2750061 C3280112 C0752355 C1858891 C0221055 C1868433 C0238357 C5830453 C4016869 C2931826 C1419862 C4016868 C5830501
Gene Locus	17q23.1-q25.3
Gene Symbol	SCN4A HOKPP2 CMYP22A NAC1A CMS16 HYPP
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/603967.0013 http://purl.bioontology.org/ontology/OMIM/603967.0019 http://purl.bioontology.org/ontology/OMIM/603967.0011 http://purl.bioontology.org/ontology/OMIM/603967.0012 http://purl.bioontology.org/ontology/OMIM/603967.0017 http://purl.bioontology.org/ontology/OMIM/603967.0016 http://purl.bioontology.org/ontology/OMIM/603967.0015 http://purl.bioontology.org/ontology/OMIM/603967.0014 http://purl.bioontology.org/ontology/OMIM/603967.0018 http://purl.bioontology.org/ontology/OMIM/603967.0010 http://purl.bioontology.org/ontology/OMIM/603967.0040 http://purl.bioontology.org/ontology/OMIM/603967.0041 http://purl.bioontology.org/ontology/OMIM/603967.0042 http://purl.bioontology.org/ontology/OMIM/603967.0005 http://purl.bioontology.org/ontology/OMIM/603967.0008 http://purl.bioontology.org/ontology/OMIM/603967.0004 http://purl.bioontology.org/ontology/OMIM/603967.0009 http://purl.bioontology.org/ontology/OMIM/603967.0001 http://purl.bioontology.org/ontology/OMIM/603967.0002 http://purl.bioontology.org/ontology/OMIM/603967.0003 http://purl.bioontology.org/ontology/OMIM/603967.0006 http://purl.bioontology.org/ontology/OMIM/603967.0007 http://purl.bioontology.org/ontology/OMIM/603967.0020 http://purl.bioontology.org/ontology/OMIM/603967.0021 http://purl.bioontology.org/ontology/OMIM/603967.0025 http://purl.bioontology.org/ontology/OMIM/603967.0026 http://purl.bioontology.org/ontology/OMIM/603967.0022 http://purl.bioontology.org/ontology/OMIM/603967.0027 http://purl.bioontology.org/ontology/OMIM/603967.0028 http://purl.bioontology.org/ontology/OMIM/603967.0024 http://purl.bioontology.org/ontology/OMIM/603967.0023 http://purl.bioontology.org/ontology/OMIM/603967.0029 http://purl.bioontology.org/ontology/OMIM/603967.0034 http://purl.bioontology.org/ontology/OMIM/603967.0032 http://purl.bioontology.org/ontology/OMIM/603967.0038 http://purl.bioontology.org/ontology/OMIM/603967.0030 http://purl.bioontology.org/ontology/OMIM/603967.0033 http://purl.bioontology.org/ontology/OMIM/603967.0035 http://purl.bioontology.org/ontology/OMIM/603967.0037 http://purl.bioontology.org/ontology/OMIM/603967.0036 http://purl.bioontology.org/ontology/OMIM/603967.0039 http://purl.bioontology.org/ontology/OMIM/603967.0031
MIMTYPEMEANING	Gene with known sequence
notation	603967
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 4
tui	T047 T033 T019 T028

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567635	MESH	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020967	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020967	MSHFRE	CUI
http://purl.bioontology.org/ontology/MESH/C566809	MESH	CUI
http://purl.bioontology.org/ontology/MDRFRE/10076439	MDRFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.12	ICD10CM	CUI
http://purl.bioontology.org/ontology/LNC/LP97962-2	LOINC	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19	ICD10CM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/715788001	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/715788001	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D020967	MESH	CUI
http://purl.bioontology.org/ontology/MEDDRA/10088318	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10088318	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/DA-51270	SNMI	CUI
http://purl.bioontology.org/ontology/ICD10CM/G71.19	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/F3922	RCD	CUI
http://purl.bioontology.org/ontology/MDRFRE/10088318	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/41574007	SCTSPA	CUI
http://purl.bioontology.org/ontology/MESH/D020967	MESH	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/41574007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/ICD10CM/G72.3	ICD10CM	CUI
http://purl.bioontology.org/ontology/RCD/Xa0lN	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D020513	MESH	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004155	NDFRT	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/304737009	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10076439	MEDDRA	CUI
http://purl.bioontology.org/ontology/MEDDRA/10076440	MEDDRA	CUI
http://purl.bioontology.org/ontology/MDRGER/10076439	MDRGER	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020513	MSHFRE	CUI
http://purl.bioontology.org/ontology/MDRGER/10076440	MDRGER	CUI
http://purl.bioontology.org/ontology/SNMI/D6-98520	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10076440	MDRFRE	CUI
http://purl.bioontology.org/ontology/SCTSPA/304737009	SCTSPA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/702355008	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MESH/C538353	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/702355008	SCTSPA	CUI
http://www.orpha.net/ORDO/Orphanet_118507	ORDO	LOOM