Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1

Synonyms

ISK

ID

http://purl.bioontology.org/ontology/OMIM/176261

altLabel

ISK

JERVELL AND LANGE-NIELSEN SYNDROME 2

MINIMAL POTASSIUM ION CHANNEL

LONG QT SYNDROME 5

LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO

KCNE1

MINK

LONG QT SYNDROME 2/5, DIGENIC

cui

C1867904

C3279092

C3150956

C1416563

C2676723

Gene Locus

21q22.1-q22.2

Gene Symbol

LQT5

JLNS2

JLNS

KCNE1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/176261.0005

http://purl.bioontology.org/ontology/OMIM/176261.0004

http://purl.bioontology.org/ontology/OMIM/176261.0001

http://purl.bioontology.org/ontology/OMIM/176261.0003

http://purl.bioontology.org/ontology/OMIM/176261.0002

MIMTYPEMEANING

Gene with known sequence

notation

176261

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 1

tui

T028

T033

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567343 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C566766 Medical Subject Headings CUI