Online Mendelian Inheritance in Man - POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2
Synonyms	LONG QT SYNDROME 2 LONG QT SYNDROME 2/5, DIGENIC KCNH2 LONG QT SYNDROME 1/2, DIGENIC LONG QT SYNDROME 2/9, DIGENIC KV11.1 ERG1 ETHER-A-GO-GO-RELATED GENE, HUMAN HUMAN ETHER-A-GO-GO-RELATED GENE HERG SHORT QT SYNDROME 1 LONG QT SYNDROME 2/3, DIGENIC LONG QT SYNDROME, BRADYCARDIA-INDUCED
ID	http://purl.bioontology.org/ontology/OMIM/152427
altLabel	LONG QT SYNDROME 2 LONG QT SYNDROME 2/5, DIGENIC KCNH2 LONG QT SYNDROME 1/2, DIGENIC LONG QT SYNDROME 2/9, DIGENIC KV11.1 ERG1 ETHER-A-GO-GO-RELATED GENE, HUMAN HUMAN ETHER-A-GO-GO-RELATED GENE HERG SHORT QT SYNDROME 1 LONG QT SYNDROME 2/3, DIGENIC LONG QT SYNDROME, BRADYCARDIA-INDUCED
cui	C1865020 C1416572 C3150943 C3279092 C3276240 C2678485 C4016248 C3277700
Gene Locus	7q35-q36
Gene Symbol	SQT1 HERG KCNH2 LQT2
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/152427.0008 http://purl.bioontology.org/ontology/OMIM/152427.0002 http://purl.bioontology.org/ontology/OMIM/152427.0006 http://purl.bioontology.org/ontology/OMIM/152427.0005 http://purl.bioontology.org/ontology/OMIM/152427.0004 http://purl.bioontology.org/ontology/OMIM/152427.0003 http://purl.bioontology.org/ontology/OMIM/152427.0009 http://purl.bioontology.org/ontology/OMIM/152427.0007 http://purl.bioontology.org/ontology/OMIM/152427.0001 http://purl.bioontology.org/ontology/OMIM/152427.0017 http://purl.bioontology.org/ontology/OMIM/152427.0012 http://purl.bioontology.org/ontology/OMIM/152427.0015 http://purl.bioontology.org/ontology/OMIM/152427.0010 http://purl.bioontology.org/ontology/OMIM/152427.0019 http://purl.bioontology.org/ontology/OMIM/152427.0013 http://purl.bioontology.org/ontology/OMIM/152427.0014 http://purl.bioontology.org/ontology/OMIM/152427.0016 http://purl.bioontology.org/ontology/OMIM/152427.0011 http://purl.bioontology.org/ontology/OMIM/152427.0018 http://purl.bioontology.org/ontology/OMIM/152427.0021 http://purl.bioontology.org/ontology/OMIM/152427.0020 http://purl.bioontology.org/ontology/OMIM/152427.0022 http://purl.bioontology.org/ontology/OMIM/152427.0024 http://purl.bioontology.org/ontology/OMIM/152427.0025 http://purl.bioontology.org/ontology/OMIM/152427.0026 http://purl.bioontology.org/ontology/OMIM/152427.0027 http://purl.bioontology.org/ontology/OMIM/152427.0023
MIMTYPEMEANING	Gene with known sequence
notation	152427
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	POTASSIUM CHANNEL, VOLTAGE-GATED, SUBFAMILY H, MEMBER 2
tui	T047 T033 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C566506	MESH	CUI
	http://purl.bioontology.org/ontology/LNC/LP208506-8	LOINC	CUI
	http://purl.bioontology.org/ontology/MESH/C563614	MESH	CUI
	http://purl.bioontology.org/ontology/MESH/C567515	MESH	CUI