Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 5
Synonyms

SICK SINUS SYNDROME 1

SUDDEN INFANT DEATH SYNDROME

CARDIOMYOPATHY, DILATED, 1E

LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO

VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

HEART BLOCK, NONPROGRESSIVE

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

LONG QT SYNDROME 3/6, DIGENIC

ATRIAL FIBRILLATION, FAMILIAL, 10

LONG QT SYNDROME 3

SCN5A

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

LONG QT SYNDROME 2/3, DIGENIC

ATRIAL STANDSTILL 1, DIGENIC

BRUGADA SYNDROME 1

NAV1.5

CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

SINUS NODE DISEASE

ID

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

altLabel

SICK SINUS SYNDROME 1

SUDDEN INFANT DEATH SYNDROME

CARDIOMYOPATHY, DILATED, 1E

LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO

VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 1

PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA

HEART BLOCK, NONPROGRESSIVE

CARDIAC CONDUCTION DEFECT, NONSPECIFIC

LONG QT SYNDROME 3/6, DIGENIC

ATRIAL FIBRILLATION, FAMILIAL, 10

LONG QT SYNDROME 3

SCN5A

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

LONG QT SYNDROME 2/3, DIGENIC

ATRIAL STANDSTILL 1, DIGENIC

BRUGADA SYNDROME 1

NAV1.5

CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE

SINUS NODE DISEASE

cui

C3151464

C1859062

C1837845

C3276241

C1832680

C0038644

C2748542

C1879286

C1419864

C1861984

C4016652

C0428908

C2751898

C3276240

C1838527

C1861983

C4551804

Gene Locus

3p22.2

Gene Symbol

SCN5A

CDCD2

VF1

CMD1E

LQT3

SSS1

HB1

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

600163

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

SODIUM VOLTAGE-GATED CHANNEL, ALPHA SUBUNIT 5

tui

T047

T033

T028

Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C565840 MESH CUI
http://purl.bioontology.org/ontology/MESH/C563907 MESH CUI
http://purl.bioontology.org/ontology/MESH/C563384 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567557 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566873 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP93354-6 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C566186 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10075889 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/C567851 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566185 MESH CUI
http://purl.bioontology.org/ontology/MESH/D053840 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10042439 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10069606 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/51178009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10040666 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10042440 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/DF-D0024 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10040667 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013398 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10040666 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10042439 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10011910 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10011910 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/SIDS COSTART CUI
http://purl.bioontology.org/ontology/WHO/0981 WHO-ART CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002856 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10011220 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10069606 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10069606 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10042439 MDRGER CUI
http://purl.bioontology.org/ontology/MSHFRE/D013398 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10042440 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10040666 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/51178009 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LA10530-6 LOINC CUI
http://purl.bioontology.org/ontology/MEDDRA/10011220 MEDDRA CUI
http://purl.bioontology.org/ontology/CSP/0635-4620 CRISP CUI
http://purl.bioontology.org/ontology/ICD10/R95 ICD10 CUI
http://purl.bioontology.org/ontology/MDRFRE/10011220 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10040667 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/XM09S RCD CUI
http://purl.bioontology.org/ontology/ICD9CM/798.0 ICD9CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10011910 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10042440 MEDDRA CUI
http://purl.bioontology.org/ontology/WHOFRE/0981 WHOFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10040667 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0038644 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/SCTSPA/283645003 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D3-32100 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/698249005 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/698249005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/283645003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/427.81 ICD9CM CUI
http://purl.bioontology.org/ontology/MESH/D012804 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10040737 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/60423000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X779u RCD CUI
http://purl.bioontology.org/ontology/SNMI/D3-31000 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D012804 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10075889 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10040737 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10040737 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10CM/I49.8 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10075889 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/60423000 SCTSPA CUI
http://www.orpha.net/ORDO/Orphanet_118513 ORDO LOOM