Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT

Synonyms

ATRIAL FIBRILLATION, FAMILIAL, 13

ID

http://purl.bioontology.org/ontology/OMIM/600235

altLabel

ATRIAL FIBRILLATION, FAMILIAL, 13

SCN1B

BRUGADA SYNDROME 5

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52

cui

C1858672

C1419857

C2748542

C2748541

C4479236

C3809311

Gene Locus

19q13.1

Gene Symbol

GEFSP1

EIEE52

ATFB13

BRGDA5

SCN1B

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600235.0003

http://purl.bioontology.org/ontology/OMIM/600235.0004

http://purl.bioontology.org/ontology/OMIM/600235.0008

http://purl.bioontology.org/ontology/OMIM/600235.0009

http://purl.bioontology.org/ontology/OMIM/600235.0001

http://purl.bioontology.org/ontology/OMIM/600235.0006

http://purl.bioontology.org/ontology/OMIM/600235.0005

http://purl.bioontology.org/ontology/OMIM/600235.0007

http://purl.bioontology.org/ontology/OMIM/600235.0002

MIMTYPEMEANING

Gene with known sequence

notation

600235

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SODIUM CHANNEL, VOLTAGE-GATED, TYPE I, BETA SUBUNIT

tui

T028

T047

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http://purl.bioontology.org/ontology/MESH/C565809 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567557 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C567556 Medical Subject Headings CUI