Online Mendelian Inheritance in Man - SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1
Synonyms	NAV1.1 SCN1A GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B FEBRILE SEIZURES, FAMILIAL, 3A, SUSCEPTIBILITY TO SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT FEBRILE SEIZURES, FAMILIAL, 3A SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT MIGRAINE, FAMILIAL HEMIPLEGIC, 3 NAC1 DRAVET SYNDROME
ID	http://purl.bioontology.org/ontology/OMIM/182389
altLabel	NAV1.1 SCN1A GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B FEBRILE SEIZURES, FAMILIAL, 3A, SUSCEPTIBILITY TO SODIUM CHANNEL, BRAIN TYPE I, ALPHA SUBUNIT FEBRILE SEIZURES, FAMILIAL, 3A SODIUM CHANNEL, NEURONAL TYPE I, ALPHA SUBUNIT MIGRAINE, FAMILIAL HEMIPLEGIC, 3 NAC1 DRAVET SYNDROME
cui	C4016377 C0751122 C1419856 C5543353 C2751756 C1864987 C1858673
Gene Locus	2q24
Gene Symbol	DRVT DEE6B SCN1A GEFSP2 SMEI FEB3A DEE6A FHM3
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/182389.0004 http://purl.bioontology.org/ontology/OMIM/182389.0008 http://purl.bioontology.org/ontology/OMIM/182389.0001 http://purl.bioontology.org/ontology/OMIM/182389.0002 http://purl.bioontology.org/ontology/OMIM/182389.0003 http://purl.bioontology.org/ontology/OMIM/182389.0007 http://purl.bioontology.org/ontology/OMIM/182389.0009 http://purl.bioontology.org/ontology/OMIM/182389.0005 http://purl.bioontology.org/ontology/OMIM/182389.0006 http://purl.bioontology.org/ontology/OMIM/182389.0023 http://purl.bioontology.org/ontology/OMIM/182389.0022 http://purl.bioontology.org/ontology/OMIM/182389.0025 http://purl.bioontology.org/ontology/OMIM/182389.0026 http://purl.bioontology.org/ontology/OMIM/182389.0024 http://purl.bioontology.org/ontology/OMIM/182389.0020 http://purl.bioontology.org/ontology/OMIM/182389.0027 http://purl.bioontology.org/ontology/OMIM/182389.0021 http://purl.bioontology.org/ontology/OMIM/182389.0018 http://purl.bioontology.org/ontology/OMIM/182389.0010 http://purl.bioontology.org/ontology/OMIM/182389.0019 http://purl.bioontology.org/ontology/OMIM/182389.0013 http://purl.bioontology.org/ontology/OMIM/182389.0012 http://purl.bioontology.org/ontology/OMIM/182389.0011 http://purl.bioontology.org/ontology/OMIM/182389.0017 http://purl.bioontology.org/ontology/OMIM/182389.0015 http://purl.bioontology.org/ontology/OMIM/182389.0016 http://purl.bioontology.org/ontology/OMIM/182389.0014
MIMTYPEMEANING	Gene with known sequence
notation	182389
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 1
tui	T047 T033 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MDRGER/10073677	MDRGER	CUI
	http://purl.bioontology.org/ontology/LNC/LP35863-7	LOINC	CUI
	http://purl.bioontology.org/ontology/MESH/C567820	MESH	CUI
	http://purl.bioontology.org/ontology/MESH/C566500	MESH	CUI
	http://purl.bioontology.org/ontology/MESH/C565810	MESH	CUI
	http://purl.bioontology.org/ontology/MDRGER/10073682	MDRGER	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10073677	MEDDRA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/230437002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/RCD/X006n	RCD	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10073682	MEDDRA	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10073682	MDRFRE	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/230437002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/ICD10CM/G40.83	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10073677	MDRFRE	CUI
	http://purl.bioontology.org/ontology/ICD10CM/G40.834	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D004831	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MESH/D004831	MESH	CUI
	http://www.orpha.net/ORDO/Orphanet_118489	ORDO	LOOM
	http://www.orpha.net/ORDO/Orphanet_118489	ORDO	LOOM