Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT

Synonyms

HEART BLOCK, NONPROGRESSIVE

ID

http://purl.bioontology.org/ontology/OMIM/600163

altLabel

HEART BLOCK, NONPROGRESSIVE

SCN5A

CARDIOMYOPATHY, DILATED, 1E

CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

SICK SINUS SYNDROME 1

LONG QT SYNDROME 2/3, DIGENIC

ATRIAL FIBRILLATION, FAMILIAL, 10

SINUS NODE DISEASE

ATRIAL STANDSTILL 1, DIGENIC

LONG QT SYNDROME 3

LONG QT SYNDROME 3/6, DIGENIC

LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

SUDDEN INFANT DEATH SYNDROME

BRUGADA SYNDROME 1

NAV1.5

VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1 (1 patient)

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

cui

C3151464

C3276241

C0038644

C2748542

C4016652

C1832680

C1142166

C4540550

C3276240

C0428908

C1837845

C1419864

C1859062

C1879286

C1861983

C1838527

C1861984

Gene Locus

3p21

Gene Symbol

CDCD2

CMD1E

SCN5A

HB1

SSS1

LQT3

VF1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600163.0021

http://purl.bioontology.org/ontology/OMIM/600163.0046

http://purl.bioontology.org/ontology/OMIM/600163.0020

http://purl.bioontology.org/ontology/OMIM/600163.0022

http://purl.bioontology.org/ontology/OMIM/600163.0002

http://purl.bioontology.org/ontology/OMIM/600163.0042

http://purl.bioontology.org/ontology/OMIM/600163.0040

http://purl.bioontology.org/ontology/OMIM/600163.0003

http://purl.bioontology.org/ontology/OMIM/600163.0033

http://purl.bioontology.org/ontology/OMIM/600163.0013

http://purl.bioontology.org/ontology/OMIM/600163.0014

http://purl.bioontology.org/ontology/OMIM/600163.0016

http://purl.bioontology.org/ontology/OMIM/600163.0027

http://purl.bioontology.org/ontology/OMIM/600163.0007

http://purl.bioontology.org/ontology/OMIM/600163.0026

http://purl.bioontology.org/ontology/OMIM/600163.0047

http://purl.bioontology.org/ontology/OMIM/600163.0008

http://purl.bioontology.org/ontology/OMIM/600163.0048

http://purl.bioontology.org/ontology/OMIM/600163.0015

http://purl.bioontology.org/ontology/OMIM/600163.0034

http://purl.bioontology.org/ontology/OMIM/600163.0035

http://purl.bioontology.org/ontology/OMIM/600163.0028

http://purl.bioontology.org/ontology/OMIM/600163.0029

http://purl.bioontology.org/ontology/OMIM/600163.0009

http://purl.bioontology.org/ontology/OMIM/600163.0039

http://purl.bioontology.org/ontology/OMIM/600163.0031

http://purl.bioontology.org/ontology/OMIM/600163.0011

http://purl.bioontology.org/ontology/OMIM/600163.0023

http://purl.bioontology.org/ontology/OMIM/600163.0043

http://purl.bioontology.org/ontology/OMIM/600163.0036

http://purl.bioontology.org/ontology/OMIM/600163.0044

http://purl.bioontology.org/ontology/OMIM/600163.0032

http://purl.bioontology.org/ontology/OMIM/600163.0030

http://purl.bioontology.org/ontology/OMIM/600163.0010

http://purl.bioontology.org/ontology/OMIM/600163.0012

http://purl.bioontology.org/ontology/OMIM/600163.0024

http://purl.bioontology.org/ontology/OMIM/600163.0004

http://purl.bioontology.org/ontology/OMIM/600163.0006

http://purl.bioontology.org/ontology/OMIM/600163.0045

http://purl.bioontology.org/ontology/OMIM/600163.0025

http://purl.bioontology.org/ontology/OMIM/600163.0005

http://purl.bioontology.org/ontology/OMIM/600163.0017

http://purl.bioontology.org/ontology/OMIM/600163.0019

http://purl.bioontology.org/ontology/OMIM/600163.0038

http://purl.bioontology.org/ontology/OMIM/600163.0018

http://purl.bioontology.org/ontology/OMIM/600163.0001

http://purl.bioontology.org/ontology/OMIM/600163.0041

MIMTYPEMEANING

Gene with known sequence

notation

600163

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SODIUM CHANNEL, VOLTAGE-GATED, TYPE V, ALPHA SUBUNIT

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/MESH/D012804 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563384 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C565840 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/I49.8 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10CM/I49.8 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/C567557 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D013398 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566186 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/R95 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MESH/D053840 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566185 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C563907 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LA10530-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0038644 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/ICD10/R95 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/LNC/LP93354-6 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C566873 Medical Subject Headings CUI