Long Qt Syndrome 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LNG051 MIFTS: 41	Long Qt Syndrome 6 Categories: Genetic diseases, Rare diseases, Cardiovascular diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Long Qt Syndrome 6

MalaCards integrated aliases for Long Qt Syndrome 6:

Name: Long Qt Syndrome 6 ⁵⁷ ¹² ⁵³ ⁷⁵ ²⁹ ⁶ ¹⁵ ⁷³

Lqt6 ⁵⁷ ¹² ⁵³ ⁷⁵

Long Qt Syndrome 6, Acquired, Susceptibility to ⁶

Susceptibility to Acquired Long Qt Syndrome 6 ⁷⁵

Qt Syndrome, Long, Type 6 ⁴⁰

Long Qt Syndrome 3/6 ⁷⁵

Long Qt Syndrome 3-6 ⁷³

Long Qt Syndrome-6 ¹³

Lqt3/6 ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
association of cardiac events with exercise
genetic heterogeneity (see lqt1 )
patients with more severe phenotype have been reported with mutations in more than 1 lqt-related gene
gei (gene-environment interaction) - association of cardiac events with drug administration

HPO:

³²

long qt syndrome 6:
Inheritance autosomal dominant inheritance heterogeneous

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

OMIM ⁵⁷ 613693

Disease Ontology ¹² DOID:0110648

ICD10 ³³ I45.8

MedGen ⁴² C3150953 C1863519 C3150954 more

MeSH ⁴⁴ D008133

SNOMED-CT via HPO ⁶⁹ 263681008 271594007 272030005 more

UMLS ⁷³ C3150953 C3501836

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Summaries for Long Qt Syndrome 6

OMIM : ⁵⁷ Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999). For a discussion of genetic heterogeneity of long QT syndrome, see LQT1 (192500). (613693)

MalaCards based summary : Long Qt Syndrome 6, also known as lqt6, is related to atrial fibrillation, familial, 4 and brugada syndrome 1, and has symptoms including syncope An important gene associated with Long Qt Syndrome 6 is KCNE2 (Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are sudden cardiac death and prolonged qt interval

UniProtKB/Swiss-Prot : ⁷⁵ Long QT syndrome 6: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.

Disease Ontology : ¹² A long QT interval syndrome that has material basis in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11.

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Related Diseases for Long Qt Syndrome 6

Diseases in the Long Qt Syndrome family:

Long Qt Syndrome 1	Long Qt Syndrome 3
Long Qt Syndrome 9	Long Qt Syndrome 10
Long Qt Syndrome 11	Long Qt Syndrome 12
Long Qt Syndrome 13	Long Qt Syndrome 2
Long Qt Syndrome 6	Long Qt Syndrome 5
Long Qt Syndrome 14	Long Qt Syndrome 15

Diseases related to Long Qt Syndrome 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)

#	Related Disease	Score	Top Affiliating Genes
1	atrial fibrillation, familial, 4	10.6	KCNE2 LOC105372791
2	brugada syndrome 1	10.3	KCNH2 SCN5A
3	long qt syndrome 13	10.2	KCNH2 KCNQ1 SCN5A
4	familial short qt syndrome	10.1	KCNH2 KCNJ2 KCNQ1
5	arrhythmogenic right ventricular dysplasia, familial, 2	10.0	CASQ2 RYR2
6	long qt syndrome 9	10.0	KCNJ2 SCN5A
7	cardiac conduction defect	9.8	KCNH2 KCNQ1 RYR2 SCN5A
8	left ventricular noncompaction	9.8	KCNQ1 RYR2 SCN5A
9	syncope	9.7	KCNH2 KCNJ2 KCNQ1 SCN5A
10	long qt syndrome 12	9.7	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11	sudden infant death syndrome	9.7	KCNH2 KCNQ1 RYR2 SCN5A
12	atrioventricular block	9.6	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
13	arrhythmogenic right ventricular cardiomyopathy	9.6	ANK2 KCNH2 RYR2 SCN5A
14	andersen cardiodysrhythmic periodic paralysis	9.5	KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
15	cardiac arrest	9.4	CASQ2 KCNQ1 RYR2 SCN5A
16	timothy syndrome	9.3	CACNA1C KCNE1 KCNH2 KCNQ1
17	long qt syndrome 3	9.3	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
18	right bundle branch block	9.2	CACNA1C SCN5A
19	heart disease	8.9	KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
20	familial atrial fibrillation	8.9	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 LOC105372791
21	intrinsic cardiomyopathy	8.8	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 RYR2
22	heart conduction disease	8.7	CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2 SCN5A
23	jervell and lange-nielsen syndrome 1	8.7	CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24	catecholaminergic polymorphic ventricular tachycardia	8.7	ANK2 CASQ2 KCNH2 KCNJ2 RYR2 SCN5A
25	dilated cardiomyopathy	8.6	CACNA1C KCNH2 KCNQ1 RYR2 SCN5A
26	short qt syndrome	8.6	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
27	long qt syndrome 2	8.4	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
28	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	8.4	ANK2 CASQ2 KCNH2 KCNJ2 KCNQ1 RYR2
29	atrial fibrillation	8.4	ANK2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
30	ventricular fibrillation, paroxysmal familial, 1	8.3	CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
31	brugada syndrome	8.3	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1
32	cardiac arrhythmia	7.4	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
33	long qt syndrome	7.4	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
34	long qt syndrome 5	7.0	ANK2 CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2
35	long qt syndrome 1	6.8	ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2

Graphical network of the top 20 diseases related to Long Qt Syndrome 6:

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Symptoms & Phenotypes for Long Qt Syndrome 6

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Heart:
prolonged qt interval on ekg
syncope
torsade de pointes
ventricular fibrillation
sudden cardiac death

Clinical features from OMIM:

613693

Human phenotypes related to Long Qt Syndrome 6:

³²

#	Description	HPO Source Accession
1	sudden cardiac death ³²	HP:0001645
2	prolonged qt interval ³²	HP:0001657
3	syncope ³²	HP:0001279
4	ventricular fibrillation ³²	HP:0001663
5	torsade de pointes ³²	HP:0001664

UMLS symptoms related to Long Qt Syndrome 6:

syncope

MGI Mouse Phenotypes related to Long Qt Syndrome 6:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.76	CASQ2 KCNH2 KCNJ2 KCNQ1 MGP RYR2
2	growth/size/body region	MP:0005378	9.61	CASQ2 KCNE2 KCNH2 KCNJ2 KCNQ1 MGP
3	muscle	MP:0005369	9.23	CASQ2 KCNH2 KCNJ2 KCNQ1 MGP RYR2

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Drugs & Therapeutics for Long Qt Syndrome 6

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 6

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Genetic Tests for Long Qt Syndrome 6

Genetic tests related to Long Qt Syndrome 6:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 6 ²⁹	KCNE2

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Anatomical Context for Long Qt Syndrome 6

MalaCards organs/tissues related to Long Qt Syndrome 6:

⁴¹

Heart

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Publications for Long Qt Syndrome 6

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Genes for Long Qt Syndrome 6

Genes related to Long Qt Syndrome 6 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	937.28	Molecular basis known ⁵⁷ Causative variation ⁷⁵ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
2	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	17.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	17.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	17.03	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	16.75	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ANK2	Ankyrin 2	Protein Coding	16.48	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	RYR2	Ryanodine Receptor 2	Protein Coding	15.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	KCNJ2	Potassium Voltage-Gated Channel Subfamily J Member 2	Protein Coding	15.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	GLE1	GLE1, RNA Export Mediator	Protein Coding	15.08	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	CASQ2	Calsequestrin 2	Protein Coding	14.99	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	SGK1	Serum/Glucocorticoid Regulated Kinase 1	Protein Coding	14.13	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	CACNA1C	Calcium Voltage-Gated Channel Subunit Alpha1 C	Protein Coding	14.06	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	MGP	Matrix Gla Protein	Protein Coding	13.94	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	LOC105372791	Uncharacterized LOC105372791	RNA Gene	8.86	GeneCards inferred via : Variants (show sections)

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Variations for Long Qt Syndrome 6

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 6:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	KCNE2	p.Met54Thr	VAR_008377	rs74315447
2	KCNE2	p.Ile57Thr	VAR_008378	rs74315448
3	KCNE2	p.Val65Met	VAR_015063	rs199473364
4	KCNE2	p.Phe60Leu	VAR_029334	rs16991654
5	KCNE2	p.Arg77Trp	VAR_035386	rs141423405

ClinVar genetic disease variations for Long Qt Syndrome 6:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	KCNE2	NM_172201.1(KCNE2): c.354G> A (p.Gly118=)	single nucleotide variant	Benign/Likely benign	rs187917779	GRCh37	Chromosome 21, 35743131: 35743131
2	KCNE2	NM_172201.1(KCNE2): c.354G> A (p.Gly118=)	single nucleotide variant	Benign/Likely benign	rs187917779	GRCh38	Chromosome 21, 34370832: 34370832
3	KCNE2	NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu)	single nucleotide variant	Uncertain significance	rs183427173	GRCh37	Chromosome 21, 35743094: 35743094
4	KCNE2	NM_172201.1(KCNE2): c.317C> T (p.Ser106Leu)	single nucleotide variant	Uncertain significance	rs183427173	GRCh38	Chromosome 21, 34370795: 34370795
5	KCNE2	NM_172201.1(KCNE2): c.190A> G (p.Ile64Val)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 21, 34370668: 34370668
6	KCNE2	NM_172201.1(KCNE2): c.190A> G (p.Ile64Val)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 21, 35742967: 35742967
7	KCNE2	NM_172201.1(KCNE2): c.339C> T (p.Asn113=)	single nucleotide variant	Likely benign	rs756380802	GRCh37	Chromosome 21, 35743116: 35743116
8	KCNE2	NM_172201.1(KCNE2): c.339C> T (p.Asn113=)	single nucleotide variant	Likely benign	rs756380802	GRCh38	Chromosome 21, 34370817: 34370817
9	KCNE2	NM_172201.1(KCNE2): c.204G> A (p.Leu68=)	single nucleotide variant	Uncertain significance	rs200403369	GRCh37	Chromosome 21, 35742981: 35742981
10	KCNE2	NM_172201.1(KCNE2): c.204G> A (p.Leu68=)	single nucleotide variant	Uncertain significance	rs200403369	GRCh38	Chromosome 21, 34370682: 34370682

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Expression for Long Qt Syndrome 6

Search GEO for disease gene expression data for Long Qt Syndrome 6.

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Pathways for Long Qt Syndrome 6

Pathways related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁷ Show member pathways Adrenergic signaling in cardiomyocytes ³⁷ Ca2+ activated K+ channels ⁶⁶ Cortisol synthesis and secretion ³⁷ Cushing's syndrome ³⁷ Insulin secretion ³⁷ Melanogenesis ³⁷ Thyroid hormone synthesis ³⁷	12.66	CACNA1C KCNE1 KCNQ1 RYR2 SCN5A
2	Cardiac conduction ⁶⁶ Show member pathways Classical Kir channels ⁶⁶ Ion homeostasis ⁶⁶ Ion transport by P-type ATPases ⁶⁶ Muscle contraction ⁶⁶ Phase 1 - inactivation of fast Na+ channels ⁶⁶ Phase 3 - rapid repolarisation ⁶⁶ Phase 4 - resting membrane potential ⁶⁶ Physiological factors ⁶⁶ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁶ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁶ Tandem pore domain potassium channels ⁶⁶ TWIK related potassium channel (TREK) ⁶⁶ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁶ TWIK-related spinal cord K+ channel (TRESK) ⁶⁶ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁶	12.29	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁴	12.09	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.88	KCNH2 KCNQ1 RYR2 SCN5A
5	Salivary secretion ³⁷ Show member pathways Gastric acid secretion ³⁷	11.85	KCNE2 KCNJ2 KCNQ1
6	Potassium Channels ⁶⁶ Show member pathways HCN channels ⁶⁶ Voltage gated Potassium channels ⁶⁶	11.78	KCNH2 KCNJ2 KCNQ1
7	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.43	CACNA1C KCNE1 KCNE2 KCNQ1 SCN5A
8	Antiarrhythmic Pathway, Pharmacodynamics ⁶¹	11.07	ANK2 CACNA1C CASQ2 KCNE1 KCNE2 KCNH2
9	Interaction between L1 and Ankyrins ⁶⁶	10.95	ANK2 SCN5A
10	TarBasePathway ¹	10.78	KCNE1 KCNJ2 KCNQ1

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GO Terms for Long Qt Syndrome 6

Cellular components related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:0005764	9.71	ANK2 KCNE1 KCNE2 KCNQ1
2	sarcolemma	GO:0042383	9.54	ANK2 RYR2 SCN5A
3	sarcoplasmic reticulum membrane	GO:0033017	9.51	CASQ2 RYR2
4	voltage-gated calcium channel complex	GO:0005891	9.49	CACNA1C CASQ2
5	smooth endoplasmic reticulum	GO:0005790	9.48	KCNJ2 RYR2
6	calcium channel complex	GO:0034704	9.46	CASQ2 RYR2
7	intercalated disc	GO:0014704	9.43	ANK2 KCNJ2 SCN5A
8	voltage-gated potassium channel complex	GO:0008076	9.35	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9	T-tubule	GO:0030315	9.33	ANK2 KCNJ2 SCN5A
10	junctional sarcoplasmic reticulum membrane	GO:0014701	9.32	CASQ2 RYR2
11	Z disc	GO:0030018	9.1	ANK2 CACNA1C CASQ2 KCNE1 RYR2 SCN5A
12	plasma membrane	GO:0005886	10.13	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2

Biological processes related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show top 50) (show all 51)

#	Name	GO ID	Score	Top Affiliating Genes
1	potassium ion transport	GO:0006813	9.99	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2	potassium ion transmembrane transport	GO:0071805	9.98	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3	regulation of ion transmembrane transport	GO:0034765	9.98	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
4	cardiac muscle contraction	GO:0060048	9.92	CASQ2 KCNH2 KCNQ1 RYR2 SCN5A
5	regulation of heart rate	GO:0002027	9.87	ANK2 CASQ2 RYR2 SCN5A
6	cellular response to drug	GO:0035690	9.85	KCNE2 KCNH2 KCNQ1
7	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	GO:0010881	9.85	ANK2 CACNA1C CASQ2 RYR2
8	positive regulation of potassium ion transmembrane transport	GO:1901381	9.84	KCNE1 KCNH2 KCNJ2 KCNQ1
9	membrane depolarization during action potential	GO:0086010	9.81	CACNA1C KCNH2 SCN5A
10	membrane repolarization	GO:0086009	9.81	KCNE1 KCNE2 KCNH2 KCNQ1
11	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.8	KCNE1 KCNH2 KCNJ2 KCNQ1
12	cardiac muscle cell action potential involved in contraction	GO:0086002	9.8	CACNA1C KCNE1 KCNE2 KCNJ2 SCN5A
13	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.8	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
14	cardiac conduction	GO:0061337	9.8	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
15	regulation of potassium ion transmembrane transport	GO:1901379	9.79	KCNE1 KCNE2 KCNH2
16	regulation of cardiac muscle cell contraction	GO:0086004	9.79	ANK2 KCNJ2 SCN5A
17	membrane depolarization during cardiac muscle cell action potential	GO:0086012	9.78	CACNA1C KCNJ2 SCN5A
18	potassium ion export	GO:0071435	9.78	KCNE1 KCNE2 KCNH2 KCNQ1
19	atrial cardiac muscle cell action potential	GO:0086014	9.77	ANK2 KCNQ1 SCN5A
20	membrane repolarization during action potential	GO:0086011	9.77	KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
21	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.76	KCNE1 KCNE2 KCNH2 KCNQ1
22	potassium ion import	GO:0010107	9.71	KCNE2 KCNJ2
23	regulation of cardiac muscle contraction	GO:0055117	9.71	ANK2 RYR2
24	positive regulation of heart rate	GO:0010460	9.71	KCNQ1 RYR2
25	calcium ion transport into cytosol	GO:0060402	9.7	CACNA1C RYR2
26	regulation of release of sequestered calcium ion into cytosol	GO:0051279	9.7	ANK2 CASQ2
27	detection of calcium ion	GO:0005513	9.7	CASQ2 RYR2
28	cellular response to epinephrine stimulus	GO:0071872	9.7	KCNQ1 RYR2
29	cell communication by electrical coupling involved in cardiac conduction	GO:0086064	9.69	CACNA1C RYR2
30	regulation of ventricular cardiac muscle cell action potential	GO:0098911	9.69	CACNA1C RYR2
31	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.69	KCNE1 KCNE2
32	regulation of cardiac muscle contraction by calcium ion signaling	GO:0010882	9.68	ANK2 RYR2
33	cellular response to caffeine	GO:0071313	9.68	CASQ2 RYR2
34	regulation of delayed rectifier potassium channel activity	GO:1902259	9.68	KCNE1 KCNE2
35	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.67	KCNQ1 SCN5A
36	SA node cell action potential	GO:0086015	9.67	ANK2 SCN5A
37	membrane depolarization during AV node cell action potential	GO:0086045	9.66	CACNA1C SCN5A
38	membrane depolarization during SA node cell action potential	GO:0086046	9.66	ANK2 SCN5A
39	sarcoplasmic reticulum calcium ion transport	GO:0070296	9.65	ANK2 RYR2
40	potassium ion export across plasma membrane	GO:0097623	9.65	KCNH2 KCNQ1
41	regulation of gastric acid secretion	GO:0060453	9.65	KCNQ1 SGK1
42	membrane depolarization during atrial cardiac muscle cell action potential	GO:0098912	9.64	CACNA1C SCN5A
43	regulation of atrial cardiac muscle cell action potential	GO:0098910	9.64	ANK2 RYR2
44	regulation of SA node cell action potential	GO:0098907	9.63	ANK2 RYR2
45	regulation of membrane repolarization	GO:0060306	9.63	CASQ2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
46	Purkinje myocyte to ventricular cardiac muscle cell signaling	GO:0086029	9.62	CASQ2 RYR2
47	regulation of heart rate by cardiac conduction	GO:0086091	9.56	ANK2 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2
48	ventricular cardiac muscle cell action potential	GO:0086005	9.17	ANK2 KCNE1 KCNE2 KCNH2 KCNQ1 RYR2
49	ion transport	GO:0006811	10.16	CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
50	transmembrane transport	GO:0055085	10.08	CACNA1C KCNH2 KCNQ1 RYR2 SCN5A

Molecular functions related to Long Qt Syndrome 6 according to GeneCards Suite gene sharing:

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	calmodulin binding	GO:0005516	9.8	CACNA1C KCNQ1 RYR2 SCN5A
2	ion channel activity	GO:0005216	9.76	CACNA1C KCNH2 RYR2 SCN5A
3	ion channel binding	GO:0044325	9.72	ANK2 KCNE2 KCNQ1 RYR2 SCN5A
4	potassium channel activity	GO:0005267	9.71	KCNE1 KCNE2 KCNH2 KCNQ1
5	scaffold protein binding	GO:0097110	9.69	KCNH2 KCNQ1 SCN5A
6	voltage-gated potassium channel activity	GO:0005249	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
7	potassium channel regulator activity	GO:0015459	9.65	KCNE1 KCNE2 SGK1
8	voltage-gated ion channel activity	GO:0005244	9.63	CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
9	inward rectifier potassium channel activity	GO:0005242	9.61	KCNE2 KCNH2 KCNJ2
10	delayed rectifier potassium channel activity	GO:0005251	9.56	KCNE1 KCNE2 KCNH2 KCNQ1
11	protein kinase A regulatory subunit binding	GO:0034237	9.54	KCNQ1 RYR2
12	protein kinase A catalytic subunit binding	GO:0034236	9.52	KCNQ1 RYR2
13	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	9.26	KCNE1 KCNE2 KCNH2 KCNQ1
14	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	8.92	KCNE1 KCNH2 KCNJ2 KCNQ1

Sources

Sources for Long Qt Syndrome 6

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia