Long Qt Syndrome 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Name: Long Qt Syndrome 12 ⁵⁸ ¹² ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Lqt12 ⁵⁸ ¹² ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
syncopal episodes
risk of sudden death due to cardiac arrhythmia

HPO:

³³

long qt syndrome 12:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the circulatory system

Other forms of heart disease

Other conduction disorders

Other specified conduction disorders

External Ids:

Disease Ontology ¹² DOID:0110653

OMIM ⁵⁸ 612955

MeSH ⁴⁵ D008133

ICD10 ³⁴ I45.8

MedGen ⁴³ C2751830

SNOMED-CT via HPO ⁷⁰ 263681008 271594007 272030005 more

UMLS ⁷⁴ C2751830

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Summaries for Long Qt Syndrome 12

OMIM : ⁵⁸ Congenital long QT syndrome (LQTS) 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). (612955)

MalaCards based summary : Long Qt Syndrome 12, also known as lqt12, is related to brugada syndrome 1 and long qt syndrome 9, and has symptoms including syncopal episode An important gene associated with Long Qt Syndrome 12 is SNTA1 (Syntrophin Alpha 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Cardiac conduction. Affiliated tissues include heart, and related phenotypes are syncope and ventricular fibrillation

Disease Ontology : ¹² A long QT syndrome that has material basis in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21.

UniProtKB/Swiss-Prot : ⁷⁶ Long QT syndrome 12: 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.

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Related Diseases for Long Qt Syndrome 12

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 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 34)

#	Related Disease	Score	Top Affiliating Genes
1	brugada syndrome 1	9.9	KCNH2 SCN5A
2	long qt syndrome 9	9.9	SCN5A SNTA1
3	third-degree atrioventricular block	9.9	KCNE2 SCN5A
4	sick sinus syndrome	9.9	SCN5A SNTA1
5	familial short qt syndrome	9.8	KCNH2 KCNQ1
6	catecholaminergic polymorphic ventricular tachycardia	9.7	KCNH2 SCN5A
7	benign neonatal seizures	9.7	KCNE2 KCNQ1
8	long qt syndrome 13	9.6	KCNH2 KCNQ1 SCN5A
9	cardiac conduction defect	9.6	KCNH2 KCNQ1 SCN5A
10	syncope	9.6	KCNH2 KCNQ1 SCN5A
11	ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	9.6	KCNH2 KCNQ1 SCN5A
12	dilated cardiomyopathy	9.6	KCNH2 KCNQ1 SCN5A
13	left ventricular noncompaction	9.5	KCNQ1 SCN5A SNTA1
14	cardiac arrest	9.5	KCNH2 KCNQ1 SCN5A
15	timothy syndrome	9.5	KCNE1 KCNH2 KCNQ1
16	sudden infant death syndrome	9.3	KCNH2 KCNQ1 SCN5A SNTA1
17	short qt syndrome	9.2	KCNE1 KCNE2 KCNH2 KCNQ1
18	heart conduction disease	9.2	KCNE1 KCNH2 KCNQ1 SCN5A
19	heart disease	9.2	KCNE2 KCNH2 KCNQ1 SCN5A
20	long qt syndrome 3	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
21	long qt syndrome 5	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
22	jervell and lange-nielsen syndrome 1	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
23	ventricular fibrillation, paroxysmal familial, 1	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
24	long qt syndrome 6	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
25	cardiac arrhythmia	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26	andersen cardiodysrhythmic periodic paralysis	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
27	atrioventricular block	9.0	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
28	intrinsic cardiomyopathy	8.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
29	familial atrial fibrillation	8.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
30	atrial fibrillation	8.9	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31	long qt syndrome 1	8.7	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
32	long qt syndrome	8.7	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
33	long qt syndrome 2	8.7	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
34	brugada syndrome	8.7	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1

Graphical network of the top 20 diseases related to Long Qt Syndrome 12:

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Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

³³

#	Description	HPO Source Accession
1	syncope ³³	HP:0001279
2	ventricular fibrillation ³³	HP:0001663
3	prolonged qtc interval ³³	HP:0005184
4	torsade de pointes ³³	HP:0001664

Symptoms via clinical synopsis from OMIM:

⁵⁸

Cardiovascular Heart:
ventricular fibrillation
prolonged qt interval on electrocardiogram

Clinical features from OMIM:

612955

UMLS symptoms related to Long Qt Syndrome 12:

syncopal episode

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

⁴⁷

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	8.92	KCNH2 KCNQ1 SCN5A SNTA1

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Drugs & Therapeutics for Long Qt Syndrome 12

Search Clinical Trials , NIH Clinical Center for Long Qt Syndrome 12

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Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

#	Genetic test	Affiliating Genes
1	Long Qt Syndrome 12 ³⁰	SNTA1

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Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

⁴²

Heart

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Publications for Long Qt Syndrome 12

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Genes for Long Qt Syndrome 12

Genes related to Long Qt Syndrome 12 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SNTA1	Syntrophin Alpha 1	Protein Coding	928.4	Molecular basis known ⁵⁸ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)
2	KCNH2	Potassium Voltage-Gated Channel Subfamily H Member 2	Protein Coding	15.95	DISEASES inferred ¹⁵
3	KCNE2	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 2	Protein Coding	15.93	DISEASES inferred ¹⁵
4	KCNE1	Potassium Voltage-Gated Channel Subfamily E Regulatory Subunit 1	Protein Coding	15.39	DISEASES inferred ¹⁵
5	KCNQ1	Potassium Voltage-Gated Channel Subfamily Q Member 1	Protein Coding	14.89	DISEASES inferred ¹⁵
6	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	14.88	DISEASES inferred ¹⁵

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Variations for Long Qt Syndrome 12

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 12:

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	SNTA1	p.Ala257Gly	VAR_062399	rs56157422
2	SNTA1	p.Ala390Val	VAR_062400	rs121434500

ClinVar genetic disease variations for Long Qt Syndrome 12:

⁶ (show all 22)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SNTA1	NM_003098.2(SNTA1): c.787G> T (p.Ala263Ser)	single nucleotide variant	Uncertain significance	rs150576530	GRCh38	Chromosome 20, 33412697: 33412697
2	SNTA1	NM_003098.2(SNTA1): c.787G> T (p.Ala263Ser)	single nucleotide variant	Uncertain significance	rs150576530	GRCh37	Chromosome 20, 32000503: 32000503
3	SNTA1	NM_003098.2(SNTA1): c.770C> G (p.Ala257Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56157422	GRCh37	Chromosome 20, 32000520: 32000520
4	SNTA1	NM_003098.2(SNTA1): c.770C> G (p.Ala257Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs56157422	GRCh38	Chromosome 20, 33412714: 33412714
5	SNTA1	NM_003098.2(SNTA1): c.375G> C (p.Gln125His)	single nucleotide variant	Uncertain significance	rs201421292	GRCh37	Chromosome 20, 32026768: 32026768
6	SNTA1	NM_003098.2(SNTA1): c.375G> C (p.Gln125His)	single nucleotide variant	Uncertain significance	rs201421292	GRCh38	Chromosome 20, 33438962: 33438962
7	SNTA1	NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp)	single nucleotide variant	Uncertain significance	rs373387978	GRCh37	Chromosome 20, 31997974: 31997974
8	SNTA1	NM_003098.2(SNTA1): c.1204C> T (p.Arg402Trp)	single nucleotide variant	Uncertain significance	rs373387978	GRCh38	Chromosome 20, 33410168: 33410168
9	SNTA1	NM_003098.2(SNTA1): c.1169C> T (p.Ala390Val)	single nucleotide variant	Likely pathogenic	rs121434500	GRCh37	Chromosome 20, 31998009: 31998009
10	SNTA1	NM_003098.2(SNTA1): c.1169C> T (p.Ala390Val)	single nucleotide variant	Likely pathogenic	rs121434500	GRCh38	Chromosome 20, 33410203: 33410203
11	SNTA1	NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144860423	GRCh37	Chromosome 20, 32005660: 32005660
12	SNTA1	NM_003098.2(SNTA1): c.566C> T (p.Ser189Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs144860423	GRCh38	Chromosome 20, 33417854: 33417854
13	SNTA1	NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln)	single nucleotide variant	Uncertain significance	rs771180054	GRCh37	Chromosome 20, 32005606: 32005606
14	SNTA1	NM_003098.2(SNTA1): c.620G> A (p.Arg207Gln)	single nucleotide variant	Uncertain significance	rs771180054	GRCh38	Chromosome 20, 33417800: 33417800
15	SNTA1	NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs572545726	GRCh37	Chromosome 20, 32031206: 32031206
16	SNTA1	NM_003098.2(SNTA1): c.221C> T (p.Pro74Leu)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs572545726	GRCh38	Chromosome 20, 33443400: 33443400
17	SNTA1	NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser)	single nucleotide variant	Uncertain significance	rs1135401951	GRCh37	Chromosome 20, 32031233: 32031233
18	SNTA1	NM_003098.2(SNTA1): c.194A> G (p.Asn65Ser)	single nucleotide variant	Uncertain significance	rs1135401951	GRCh38	Chromosome 20, 33443427: 33443427
19	SNTA1	NM_003098.2(SNTA1): c.1339C> T (p.Arg447Ter)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 20, 31996593: 31996593
20	SNTA1	NM_003098.2(SNTA1): c.1339C> T (p.Arg447Ter)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 20, 33408787: 33408787
21	SNTA1	NM_003098.2(SNTA1): c.770C> T (p.Ala257Val)	single nucleotide variant	Likely benign		GRCh38	Chromosome 20, 33412714: 33412714
22	SNTA1	NM_003098.2(SNTA1): c.770C> T (p.Ala257Val)	single nucleotide variant	Likely benign		GRCh37	Chromosome 20, 32000520: 32000520

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Expression for Long Qt Syndrome 12

Search GEO for disease gene expression data for Long Qt Syndrome 12.

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Pathways for Long Qt Syndrome 12

Pathways related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁸ Show member pathways Adrenergic signaling in cardiomyocytes ³⁸ Ca2+ activated K+ channels ⁶⁷ Cortisol synthesis and secretion ³⁸ Cushing syndrome ³⁸ Insulin secretion ³⁸ Melanogenesis ³⁸ Thyroid hormone synthesis ³⁸	12.45	KCNE1 KCNQ1 SCN5A
2	Cardiac conduction ⁶⁷ Show member pathways Classical Kir channels ⁶⁷ Ion homeostasis ⁶⁷ Ion transport by P-type ATPases ⁶⁷ Muscle contraction ⁶⁷ Phase 1 - inactivation of fast Na+ channels ⁶⁷ Phase 3 - rapid repolarisation ⁶⁷ Phase 4 - resting membrane potential ⁶⁷ Physiological factors ⁶⁷ Tandem of pore domain in a weak inwardly rectifying K+ channels (TWIK) ⁶⁷ Tandem pore domain halothane-inhibited K+ channel (THIK) ⁶⁷ Tandem pore domain potassium channels ⁶⁷ TWIK related potassium channel (TREK) ⁶⁷ TWIK-related alkaline pH activated K+ channel (TALK) ⁶⁷ TWIK-related spinal cord K+ channel (TRESK) ⁶⁷ TWIK-releated acid-sensitive K+ channel (TASK) ⁶⁷	12.28	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
3	Dopamine-DARPP32 Feedback onto cAMP Pathway ⁶⁵	11.98	KCNE1 KCNE2 KCNH2 KCNQ1
4	Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways ¹	11.77	KCNH2 KCNQ1 SCN5A SNTA1
5	Phase 0 - rapid depolarisation ⁶⁷ Show member pathways Phase 2 - plateau phase ⁶⁷	11.13	KCNE1 KCNE2 KCNQ1 SCN5A
6	Antiarrhythmic Pathway, Pharmacodynamics ⁶²	10.77	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
7	TarBasePathway ¹	10.65	KCNE1 KCNQ1

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GO Terms for Long Qt Syndrome 12

Cellular components related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	plasma membrane	GO:0005886	9.73	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
2	Z disc	GO:0030018	9.4	KCNE1 SCN5A
3	sarcolemma	GO:0042383	9.37	SCN5A SNTA1
4	lysosome	GO:0005764	9.33	KCNE1 KCNE2 KCNQ1
5	lateral plasma membrane	GO:0016328	9.32	SCN5A SNTA1
6	cell surface	GO:0009986	9.26	KCNE1 KCNE2 KCNH2 SCN5A
7	voltage-gated potassium channel complex	GO:0008076	8.92	KCNE1 KCNE2 KCNH2 KCNQ1

Biological processes related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	ion transport	GO:0006811	9.96	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
2	potassium ion transport	GO:0006813	9.85	KCNE1 KCNE2 KCNH2 KCNQ1
3	potassium ion transmembrane transport	GO:0071805	9.84	KCNE1 KCNE2 KCNH2 KCNQ1
4	regulation of ion transmembrane transport	GO:0034765	9.83	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5	transmembrane transport	GO:0055085	9.81	KCNH2 KCNQ1 SCN5A
6	cellular response to drug	GO:0035690	9.75	KCNE2 KCNH2 KCNQ1
7	cardiac muscle contraction	GO:0060048	9.74	KCNH2 KCNQ1 SCN5A
8	potassium ion export across plasma membrane	GO:0097623	9.71	KCNE1 KCNE2 KCNH2 KCNQ1
9	regulation of potassium ion transmembrane transport	GO:1901379	9.7	KCNE1 KCNE2 KCNH2
10	cardiac muscle cell action potential involved in contraction	GO:0086002	9.69	KCNE1 KCNE2 SCN5A
11	positive regulation of potassium ion transmembrane transport	GO:1901381	9.67	KCNE1 KCNH2 KCNQ1
12	membrane repolarization during ventricular cardiac muscle cell action potential	GO:0098915	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
13	regulation of membrane repolarization	GO:0060306	9.65	KCNE2 KCNH2 KCNQ1
14	cellular response to cAMP	GO:0071320	9.63	KCNE1 KCNQ1
15	membrane repolarization during cardiac muscle cell action potential	GO:0086013	9.63	KCNE1 KCNH2 KCNQ1
16	regulation of heart rate	GO:0002027	9.62	SCN5A SNTA1
17	membrane depolarization during action potential	GO:0086010	9.62	KCNH2 SCN5A
18	membrane repolarization	GO:0086009	9.62	KCNE1 KCNE2 KCNH2 KCNQ1
19	negative regulation of delayed rectifier potassium channel activity	GO:1902260	9.61	KCNE1 KCNE2
20	atrial cardiac muscle cell action potential	GO:0086014	9.61	KCNQ1 SCN5A
21	regulation of sodium ion transmembrane transport	GO:1902305	9.6	SCN5A SNTA1
22	regulation of delayed rectifier potassium channel activity	GO:1902259	9.59	KCNE1 KCNE2
23	regulation of atrial cardiac muscle cell membrane repolarization	GO:0060372	9.58	KCNQ1 SCN5A
24	membrane repolarization during action potential	GO:0086011	9.56	KCNE1 KCNE2 KCNH2 KCNQ1
25	regulation of heart rate by cardiac conduction	GO:0086091	9.55	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
26	regulation of ventricular cardiac muscle cell membrane repolarization	GO:0060307	9.43	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1
27	ventricular cardiac muscle cell action potential	GO:0086005	9.1	KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A SNTA1

Molecular functions related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	voltage-gated ion channel activity	GO:0005244	9.71	KCNE2 KCNH2 KCNQ1 SCN5A
2	potassium channel activity	GO:0005267	9.67	KCNE1 KCNE2 KCNH2 KCNQ1
3	calmodulin binding	GO:0005516	9.65	KCNQ1 SCN5A SNTA1
4	voltage-gated potassium channel activity	GO:0005249	9.62	KCNE1 KCNE2 KCNH2 KCNQ1
5	scaffold protein binding	GO:0097110	9.61	KCNH2 KCNQ1 SCN5A
6	potassium channel regulator activity	GO:0015459	9.51	KCNE1 KCNE2
7	inward rectifier potassium channel activity	GO:0005242	9.49	KCNE2 KCNH2
8	nitric-oxide synthase binding	GO:0050998	9.46	SCN5A SNTA1
9	delayed rectifier potassium channel activity	GO:0005251	9.46	KCNE1 KCNE2 KCNH2 KCNQ1
10	voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization	GO:0086008	9.43	KCNE1 KCNH2 KCNQ1
11	ion channel binding	GO:0044325	9.35	KCNE1 KCNE2 KCNQ1 SCN5A SNTA1
12	voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization	GO:1902282	8.92	KCNE1 KCNE2 KCNH2 KCNQ1

Sources

Sources for Long Qt Syndrome 12

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 EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Long Qt Syndrome 12 (LQT12)

Aliases & Classifications for Long Qt Syndrome 12

MalaCards integrated aliases for Long Qt Syndrome 12:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Long Qt Syndrome 12

Related Diseases for Long Qt Syndrome 12

Diseases in the Long Qt Syndrome family:

Diseases related to Long Qt Syndrome 12 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Long Qt Syndrome 12:

Symptoms & Phenotypes for Long Qt Syndrome 12

Human phenotypes related to Long Qt Syndrome 12:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Long Qt Syndrome 12:

MGI Mouse Phenotypes related to Long Qt Syndrome 12:

Drugs & Therapeutics for Long Qt Syndrome 12

Genetic Tests for Long Qt Syndrome 12

Genetic tests related to Long Qt Syndrome 12:

Anatomical Context for Long Qt Syndrome 12

MalaCards organs/tissues related to Long Qt Syndrome 12:

Publications for Long Qt Syndrome 12

Genes for Long Qt Syndrome 12

Genes related to Long Qt Syndrome 12 (1 elite genes):

Variations for Long Qt Syndrome 12

UniProtKB/Swiss-Prot genetic disease variations for Long Qt Syndrome 12:

ClinVar genetic disease variations for Long Qt Syndrome 12:

Expression for Long Qt Syndrome 12

Pathways for Long Qt Syndrome 12

Pathways related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

GO Terms for Long Qt Syndrome 12

Cellular components related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

Biological processes related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

Molecular functions related to Long Qt Syndrome 12 according to GeneCards Suite gene sharing:

Sources for Long Qt Syndrome 12