Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
Preferred Name

sodium voltage-gated channel alpha subunit 5
Synonyms

PFHB1

HB2

CMPD2

HBBD

IVF

HB1

Nav1.5

LQT3

CDCD2

SSS1

ICCD

long QT syndrome 3

HH1

ID

http://www.orpha.net/ORDO/Orphanet_118513

alternative_term

PFHB1

HB2

CMPD2

HBBD

IVF

HB1

Nav1.5

LQT3

CDCD2

SSS1

ICCD

long QT syndrome 3

HH1

hasDbXref

Reactome:Q14524

SwissProt:Q14524

ClinVar:SCN5A

Genatlas:SCN5A

OMIM:600163

Ensembl:ENSG00000183873

HGNC:10593

IUPHAR:582

label

sodium voltage-gated channel alpha subunit 5

prefixIRI

ORDO:Orphanet_118513

prefLabel

sodium voltage-gated channel alpha subunit 5

symbol

SCN5A

subClassOf

http://www.orpha.net/ORDO/Orphanet_410298

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