MCID: SHR030
MIFTS: 45

Short Qt Syndrome

Categories: Genetic diseases, Cardiovascular diseases, Rare diseases, Eye diseases, Skin diseases, Endocrine diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Short Qt Syndrome

MalaCards integrated aliases for Short Qt Syndrome:

Name: Short Qt Syndrome 12 24 25 29 14 69
Sqts 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793

Summaries for Short Qt Syndrome

Genetics Home Reference : 25 Short QT syndrome is a condition that can cause a disruption of the heart's normal rhythm (arrhythmia). In people with this condition, the heart (cardiac) muscle takes less time than usual to recharge between beats. The term "short QT" refers to a specific pattern of heart activity that is detected with an electrocardiogram (EKG), which is a test used to measure the electrical activity of the heart. In people with this condition, the part of the heartbeat known as the QT interval is abnormally short.

MalaCards based summary : Short Qt Syndrome, also known as sqts, is related to short qt syndrome 1 and jervell and lange-nielsen syndrome. An important gene associated with Short Qt Syndrome is KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and G-Beta Gamma Signaling. The drugs Propranolol and Cortisone acetate have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related phenotypes are cardiovascular system and muscle

Disease Ontology : 12 A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart.

Related Diseases for Short Qt Syndrome

Diseases in the Short Syndrome family:

Short Qt Syndrome 1 Short Qt Syndrome 2
Short Qt Syndrome 3 Short Qt Syndrome
Familial Short Qt Syndrome

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

(show all 47)
id Related Disease Score Top Affiliating Genes
1 short qt syndrome 1 31.4 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
2 jervell and lange-nielsen syndrome 27.0 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
3 short qt syndrome 2 12.4
4 short qt syndrome 3 12.3
5 familial short qt syndrome 12.0
6 atrial fibrillation 10.0
7 long qt syndrome 10.0
8 acute poisoning by drugs with membrane-stabilizing effect 9.9 CACNA2D1 KCNH2 KCNJ2 KCNQ1
9 brugada syndrome 9.9
10 sudden cardiac death 9.8
11 lipodystrophy, familial partial, type 5 9.6 KCNJ2 SCN5A
12 heart disease 9.6
13 ischemia 9.6
14 cardiomyopathy 9.6
15 syncope 9.6
16 sudden infant death syndrome 9.6
17 andersen syndrome 9.6
18 catecholaminergic polymorphic ventricular tachycardia 9.6
19 cardiac conduction disease with or without dilated cardiomyopathy 9.6 KCNH2 KCNQ1 SCN5A
20 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.6 MYPN SCN5A
21 hyperaldosteronism, familial, type iii 9.6 KCNH2 KCNQ1 SCN5A
22 endocardium disease 9.6 KCNE2 SCN5A
23 developmental dysplasia of the hip 2 9.6 GPD1L SCN5A
24 vascular erectile tumor 9.4 KCNH2 KCNJ2 KCNQ1 SCN5A
25 microvillus inclusion disease 9.4 KCNE2 KCNJ2 SCN5A
26 ventricular tachycardia, catecholaminergic polymorphic, 1 9.4 KCNH2 KCNJ2 KCNQ1 SCN5A
27 syne1-related emery-dreifuss muscular dystrophy 9.1 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
28 prostate malignant phyllodes tumor 9.1 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
29 brugada syndrome 3 9.1 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
30 mental retardation, autosomal dominant 11 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 brugada syndrome 1 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
32 sick sinus syndrome 1 9.0 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 second-degree atrioventricular block 8.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
34 xanthogranulomatous pyelonephritis 8.9 KCNH2 KCNJ2 KCNQ1 SCN5A
35 zttk syndrome 8.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
36 autoimmune disease of skin and connective tissue 8.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
37 pigment dispersion syndrome 8.7 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
38 atrial fibrillation, familial, 3 8.6 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
39 atrial fibrillation, familial, 10 8.5 GPD1L KCNH2 KCNQ1 SCN3B SCN5A
40 keppen-lubinsky syndrome 8.4 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
41 intellectual disability-cataracts-kyphosis syndrome 8.4 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
42 hairy cell leukemia 8.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
43 uterine fibroid 8.3 CACNA1C CACNB2 GPD1L SCN3B SCN5A
44 vitelliform macular dystrophy 8.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN3B
45 acrofrontofacionasal dysostosis 8.1 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN3B
46 hyperphosphatemia 6.7 CACNA1C CACNA2D1 CACNB2 GPD1L KCNE1 KCNE2
47 cone dystrophy 6.0 CACNA1C CACNA2D1 CACNB2 GPD1L KCNE1 KCNE2

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



Diseases related to Short Qt Syndrome

Symptoms & Phenotypes for Short Qt Syndrome

MGI Mouse Phenotypes related to Short Qt Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.56 CACNB2 KCNH2 KCNJ2 KCNQ1 SCN3B SCN5A
2 muscle MP:0005369 9.1 CACNA1C CACNA2D1 KCNH2 KCNJ2 KCNQ1 SCN5A

Drugs & Therapeutics for Short Qt Syndrome

Drugs for Short Qt Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational 525-66-6 4946
2
Cortisone acetate Approved 1950-04-4, 50-04-4 5745
3 Adrenergic Agents
4 Adrenergic Antagonists
5 Adrenergic beta-Antagonists
6 Anti-Arrhythmia Agents
7 Antihypertensive Agents
8 Neurotransmitter Agents
9 Vasodilator Agents
10 Anti-Bacterial Agents
11 Antibiotics, Antitubercular
12 Anti-Inflammatory Agents
13
Cortisone 53-06-5 222786

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832
2 Effect of Beta-blocker Therapy on QTc Response in Exercise and Recovery in Normal Subjects Completed NCT00588965 Placebo;Propranolol LA
3 Abnormal QT-Response to the Sudden Tachycardia Provoked by Standing in Individuals With Drug-induced Long QT Syndrome Recruiting NCT02581241
4 Cortisone and QTc-Interval Recruiting NCT03082339

Search NIH Clinical Center for Short Qt Syndrome

Genetic Tests for Short Qt Syndrome

Genetic tests related to Short Qt Syndrome:

id Genetic test Affiliating Genes
1 Short Qt Syndrome 29 24 KCNQ1

Anatomical Context for Short Qt Syndrome

MalaCards organs/tissues related to Short Qt Syndrome:

39
Heart, Testes

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 142)
id Title Authors Year
1
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ( 28609477 )
2017
2
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. ( 28814790 )
2017
3
Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28427417 )
2017
4
Shortening of the Short Refractory Periods in Short QT Syndrome. ( 28566296 )
2017
5
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. ( 28812984 )
2017
6
Antiarrhythmic properties of ivabradine in an experimental model of Short-QT- Syndrome. ( 28556923 )
2017
7
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. ( 28569435 )
2017
8
Short QT syndrome in pediatrics. ( 28303324 )
2017
9
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. ( 28592292 )
2017
10
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. ( 28632743 )
2017
11
Short QT syndrome and ventricular tachycardia. ( 28165781 )
2017
12
Could ivabradine be a new treatment for the short QT syndrome? ( 28640933 )
2017
13
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477827 )
2016
14
Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T). ( 28491751 )
2016
15
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477620 )
2016
16
Bystander Cardio Pulmonary Resuscitation Saves Life in a Patient with Short QT Syndrome. ( 27771688 )
2016
17
Use of a subcutaneous ICD in a patient with short QT syndrome. ( 26783432 )
2016
18
Ranolazine and Vernakalant Prevent Ventricular Arrhythmias in an Experimental Whole-Heart Model of Short QT Syndrome. ( 27283775 )
2016
19
Computational analysis of the electromechanical consequences of short QT syndrome. ( 25717305 )
2015
20
Short QT syndrome in a 14-year-old patient: The first pediatric case from Turkey. ( 26139173 )
2015
21
Carnitine deficiency induces a short QT syndrome. ( 26190315 )
2015
22
Reply to the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142294 )
2015
23
To the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142296 )
2015
24
Usefulness of exercise test in the diagnosis of short QT syndrome. ( 25833882 )
2015
25
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. ( 26346102 )
2015
26
Short QT Syndrome in Current Clinical Practice. ( 26440650 )
2015
27
Sinus bradycardia, junctional rhythm, and low-rate atrial fibrillation in Short QT syndrome during 20 years of follow-up: three faces of the same genetic problem. ( 26279191 )
2015
28
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. ( 25974115 )
2015
29
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. ( 26168993 )
2015
30
New echocardiographic insights in short QT syndrome: More than a channelopathy? ( 26001507 )
2015
31
To the Editor--PQ-segment depression in short QT syndrome: a commendable observation, yet some facts need further exploration. ( 24768610 )
2014
32
Short QT syndrome presenting as syncope: how short is too short? ( 25442000 )
2014
33
Sudden Cardiac Death and Short QT Syndrome. ( 25317944 )
2014
34
Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. ( 24818999 )
2014
35
Reply to the Editor--PQ-segment depression in short QT syndrome patients: a novel marker for diagnosing short QT syndrome? ( 24768854 )
2014
36
Short QT syndrome and idiopathic ventricular tachycardia in a 28-year-old young man: a potential disease-specific link? ( 25082947 )
2014
37
Short QT syndrome: a predictable story. ( 24818800 )
2014
38
Short QT Syndrome - Review of Diagnosis and Treatment. ( 26835070 )
2014
39
PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome? ( 24589867 )
2014
40
Short QT syndrome in a boy diagnosed on screening for heart disease. ( 25335996 )
2014
41
The long and short of it: insights into the Short QT Syndrome. ( 24333498 )
2013
42
A short story of the short QT syndrome. ( 23288944 )
2013
43
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia. ( 23440193 )
2013
44
Novel insights in the natural history of Short QT Syndrome. ( 24291113 )
2013
45
Congenital short QT syndrome: landmarks of the newest arrhythmogenic cardiac channelopathy. ( 23677719 )
2013
46
Long-term follow-up of a pediatric cohort with short QT syndrome. ( 23375927 )
2013
47
Type 2 short QT syndrome and vestibular dysfunction: Mirror of the Jervell and Lange-Nielsen syndrome? ( 24380499 )
2013
48
I^-Blockers in Congenital Short-QT Syndrome as Ion Channel Blockers. ( 23890274 )
2013
49
In silico investigation of the short QT syndrome, using human ventricle models incorporating electromechanical coupling. ( 23847545 )
2013
50
Short QT syndrome (JANUARY 2013). ( 23547088 )
2013

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ1 NM_000218.2(KCNQ1): c.919G> C (p.Val307Leu) single nucleotide variant Pathogenic rs120074195 GRCh37 Chromosome 11, 2594214: 2594214
2 KCNJ2 NM_000891.2(KCNJ2): c.514G> A (p.Asp172Asn) single nucleotide variant Pathogenic rs104894584 GRCh37 Chromosome 17, 68171694: 68171694
3 KCNH2 NM_000238.3(KCNH2): c.1764C> G (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717
4 KCNH2 NM_000238.3(KCNH2): c.1764C> A (p.Asn588Lys) single nucleotide variant Pathogenic rs104894021 GRCh37 Chromosome 7, 150648717: 150648717

Expression for Short Qt Syndrome

Search GEO for disease gene expression data for Short Qt Syndrome.

Pathways for Short Qt Syndrome

Pathways related to Short Qt Syndrome according to GeneCards Suite gene sharing:

(show all 19)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
2
Show member pathways
12.64 CACNA1C CACNA2D1 CACNB2 SCN3B SCN5A
3
Show member pathways
12.63 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNJ2 KCNQ1
4
Show member pathways
12.58 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
5 12.16 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
6
Show member pathways
12.08 CACNA1C CACNA2D1 CACNB2
7 11.98 GPD1L KCNH2 KCNQ1 SCN3B SCN5A
8
Show member pathways
11.95 KCNE2 KCNJ2 KCNQ1
9
Show member pathways
11.89 KCNH2 KCNJ2 KCNQ1
10 11.86 CACNA1C CACNA2D1 CACNB2
11
Show member pathways
11.81 CACNA1C CACNA2D1 CACNB2
12 11.56 CACNA1C CACNA2D1 CACNB2
13 11.47 CACNA1C CACNA2D1 CACNB2 KCNQ1
14 11.36 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
15 11.32 CACNA1C CACNA2D1 CACNB2
16 11.15 CACNA1C CACNB2
17
Show member pathways
11.1 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNQ1
18 11.04 SCN3B SCN5A
19 10.89 KCNE1 KCNJ2 KCNQ1

GO Terms for Short Qt Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.76 KCNE1 KCNE2 KCNH2 SCN5A
2 T-tubule GO:0030315 9.54 CACNA2D1 KCNJ2 SCN5A
3 voltage-gated calcium channel complex GO:0005891 9.5 CACNA1C CACNA2D1 CACNB2
4 voltage-gated sodium channel complex GO:0001518 9.4 SCN3B SCN5A
5 Z disc GO:0030018 9.35 CACNA1C KCNE1 MYPN SCN3B SCN5A
6 L-type voltage-gated calcium channel complex GO:1990454 9.33 CACNA1C CACNA2D1 CACNB2
7 voltage-gated potassium channel complex GO:0008076 9.02 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 membrane GO:0016020 10.17 CACNA1C CACNA2D1 CACNB2 GPD1L KCNE1 KCNE2
9 plasma membrane GO:0005886 10 CACNA1C CACNA2D1 CACNB2 GPD1L KCNE1 KCNE2

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

(show all 46)
id Name GO ID Score Top Affiliating Genes
1 potassium ion transport GO:0006813 9.99 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
2 cardiac conduction GO:0061337 9.96 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
3 cardiac muscle contraction GO:0060048 9.88 KCNH2 KCNQ1 SCN3B SCN5A
4 calcium ion transport GO:0006816 9.86 CACNA1C CACNA2D1 CACNB2
5 calcium ion transmembrane transport GO:0070588 9.85 CACNA1C CACNA2D1 CACNB2
6 positive regulation of potassium ion transmembrane transport GO:1901381 9.85 KCNE1 KCNH2 KCNJ2 KCNQ1
7 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 CACNA2D1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
8 regulation of ion transmembrane transport GO:0034765 9.85 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
9 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.84 CACNA1C KCNJ2 SCN3B SCN5A
10 cellular response to drug GO:0035690 9.83 KCNE2 KCNH2 KCNQ1
11 regulation of membrane repolarization GO:0060306 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1
12 membrane depolarization during action potential GO:0086010 9.8 KCNH2 SCN3B SCN5A
13 positive regulation of sodium ion transport GO:0010765 9.8 GPD1L SCN3B SCN5A
14 membrane repolarization during cardiac muscle cell action potential GO:0086013 9.8 KCNE1 KCNH2 KCNJ2 KCNQ1
15 membrane repolarization during action potential GO:0086011 9.8 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
16 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNE1 KCNE2 KCNH2
17 atrial cardiac muscle cell action potential GO:0086014 9.79 KCNQ1 SCN3B SCN5A
18 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.78 GPD1L SCN3B SCN5A
19 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
20 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
21 membrane depolarization during AV node cell action potential GO:0086045 9.75 CACNA1C CACNB2 SCN5A
22 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.73 CACNA1C CACNB2 SCN5A
23 regulation of heart rate GO:0002027 9.7 GPD1L SCN5A
24 potassium ion import GO:0010107 9.69 KCNE2 KCNJ2
25 membrane depolarization GO:0051899 9.69 SCN3B SCN5A
26 positive regulation of heart rate GO:0010460 9.69 KCNQ1 SCN3B
27 membrane repolarization GO:0086009 9.69 KCNE1 KCNE2 KCNQ1
28 regulation of sodium ion transmembrane transporter activity GO:2000649 9.68 GPD1L SCN3B
29 calcium ion transport into cytosol GO:0060402 9.68 CACNA1C CACNA2D1
30 regulation of cardiac muscle cell contraction GO:0086004 9.67 KCNJ2 SCN5A
31 negative regulation of delayed rectifier potassium channel activity GO:1902260 9.67 KCNE1 KCNE2
32 regulation of atrial cardiac muscle cell membrane depolarization GO:0060371 9.67 SCN3B SCN5A
33 regulation of delayed rectifier potassium channel activity GO:1902259 9.66 KCNE1 KCNE2
34 SA node cell action potential GO:0086015 9.65 SCN3B SCN5A
35 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.65 KCNQ1 SCN5A
36 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.65 CACNA2D1 CACNB2
37 potassium ion export across plasma membrane GO:0097623 9.64 KCNH2 KCNQ1
38 membrane depolarization during bundle of His cell action potential GO:0086048 9.64 CACNA2D1 SCN5A
39 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.63 CACNA1C CACNA2D1
40 ventricular cardiac muscle cell action potential GO:0086005 9.5 GPD1L KCNE1 KCNE2 KCNH2 KCNQ1 SCN3B
41 cardiac muscle cell action potential involved in contraction GO:0086002 9.17 CACNA1C CACNA2D1 KCNE1 KCNE2 KCNJ2 SCN3B
42 transport GO:0006810 10.27 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
43 ion transport GO:0006811 10.13 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
44 regulation of heart rate by cardiac conduction GO:0086091 10.02 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
45 transmembrane transport GO:0055085 10 CACNA1C KCNH2 KCNQ1 SCN5A
46 potassium ion transmembrane transport GO:0071805 10 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.77 GPD1L KCNE2 KCNQ1 SCN3B SCN5A
2 calmodulin binding GO:0005516 9.76 CACNA1C KCNQ1 SCN5A
3 ion channel activity GO:0005216 9.73 CACNA1C KCNH2 SCN5A
4 potassium channel activity GO:0005267 9.73 KCNE1 KCNE2 KCNH2 KCNQ1
5 calcium channel activity GO:0005262 9.71 CACNA1C CACNA2D1 CACNB2
6 voltage-gated potassium channel activity GO:0005249 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
7 scaffold protein binding GO:0097110 9.69 KCNH2 KCNQ1 SCN5A
8 voltage-gated calcium channel activity GO:0005245 9.65 CACNA1C CACNA2D1 CACNB2
9 inward rectifier potassium channel activity GO:0005242 9.63 KCNE2 KCNH2 KCNJ2
10 potassium channel regulator activity GO:0015459 9.6 KCNE1 KCNE2
11 sodium channel regulator activity GO:0017080 9.59 GPD1L SCN3B
12 sodium channel activity GO:0005272 9.58 SCN3B SCN5A
13 voltage-gated sodium channel activity GO:0005248 9.57 SCN3B SCN5A
14 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
15 high voltage-gated calcium channel activity GO:0008331 9.55 CACNA1C CACNB2
16 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.52 SCN3B SCN5A
17 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.5 CACNA1C CACNA2D1 CACNB2
18 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.49 CACNA1C CACNB2
19 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
20 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
21 voltage-gated ion channel activity GO:0005244 9.17 CACNA1C KCNE2 KCNH2 KCNJ2 KCNQ1 SCN3B

Sources for Short Qt Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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