MCID: SHR030
MIFTS: 43

Short Qt Syndrome

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

Aliases & Classifications for Short Qt Syndrome

MalaCards integrated aliases for Short Qt Syndrome:

Name: Short Qt Syndrome 12 72 24 36 28 14 69
Sqts 24

Classifications:



External Ids:

Disease Ontology 12 DOID:0050793
KEGG 36 H00725
UMLS 69 C2348199

Summaries for Short Qt Syndrome

Genetics Home Reference : 24 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 familial short qt syndrome and cardiac conduction defect. An important gene associated with Short Qt Syndrome is KCNH2 (Potassium Voltage-Gated Channel Subfamily H Member 2), and among its related pathways/superpathways are G-Beta Gamma Signaling and Transmission across Chemical Synapses. 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.

Wikipedia : 72 Short QT syndrome is a genetic disease of the electrical system of the heart. It consists of a... more...

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 42)
# Related Disease Score Top Affiliating Genes
1 familial short qt syndrome 33.2 CACNA2D1 KCNH2 KCNJ2 KCNQ1
2 cardiac conduction defect 29.9 KCNH2 SCN5A
3 syncope 29.2 KCNH2 KCNJ2 KCNQ1 SCN5A
4 ventricular fibrillation, paroxysmal familial, 1 28.9 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
5 hypertrophic cardiomyopathy 28.6 CACNA1C CACNB2 DES MYPN
6 sudden infant death syndrome 28.5 KCNH2 KCNQ1 SCN3B SCN5A
7 heart disease 28.5 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
8 long qt syndrome 28.5 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
9 catecholaminergic polymorphic ventricular tachycardia 28.3 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
10 jervell and lange-nielsen syndrome 1 28.3 CACNA1C KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
11 atrial fibrillation 28.0 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN3B
12 brugada syndrome 26.7 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
13 short qt syndrome 2 12.5
14 short qt syndrome 3 12.5
15 short qt syndrome 1 12.4
16 qt interval, variation in 10.9
17 long qt syndrome 9 10.0 KCNJ2 SCN5A
18 cardiac conduction disease with or without dilated cardiomyopathy 10.0 KCNH2 KCNQ1 SCN5A
19 long qt syndrome 13 10.0 KCNH2 KCNQ1 SCN5A
20 third-degree atrioventricular block 9.9 KCNE2 SCN5A
21 myopathy, spheroid body 9.9 DES MYPN
22 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.8 KCNH2 KCNJ2 KCNQ1 SCN5A
23 familial isolated dilated cardiomyopathy 9.7 DES MYPN SCN5A
24 aging 9.7
25 ischemia 9.7
26 cardiomyopathy, dilated, 1e 9.6 DES SCN5A
27 cardiac arrhythmia 9.6 KCNE2 KCNH2 KCNQ1 SCN5A
28 andersen cardiodysrhythmic periodic paralysis 9.6 KCNE2 KCNJ2 KCNQ1 SCN5A
29 heart conduction disease 9.6 KCNE1 KCNH2 KCNJ2 KCNQ1 SCN5A
30 long qt syndrome 12 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
31 long qt syndrome 3 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
32 atrioventricular block 9.4 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
33 timothy syndrome 9.2 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNH2 KCNQ1
34 long qt syndrome 5 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
35 long qt syndrome 2 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
36 intrinsic cardiomyopathy 9.2 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN5A
37 dilated cardiomyopathy 9.2 CACNA1C DES KCNQ1 MYPN SCN5A
38 right bundle branch block 9.1 CACNA1C CACNB2 SCN3B SCN5A
39 long qt syndrome 6 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
40 familial long qt syndrome 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
41 long qt syndrome 1 8.9 CACNA1C KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
42 familial atrial fibrillation 8.6 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1 SCN3B

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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.65 CACNA1C CACNA2D1 CACNB2 DES KCNH2 KCNJ2
2 muscle MP:0005369 9.23 CACNA1C CACNA2D1 DES KCNH2 KCNJ2 KCNQ1

Drugs & Therapeutics for Short Qt Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Molecular Genetic Screening and Identification of Congenital Arrhythmogenic Diseases Unknown status NCT00221832

Search NIH Clinical Center for Short Qt Syndrome

Genetic Tests for Short Qt Syndrome

Genetic tests related to Short Qt Syndrome:

# Genetic test Affiliating Genes
1 Short Qt Syndrome 28

Anatomical Context for Short Qt Syndrome

MalaCards organs/tissues related to Short Qt Syndrome:

38
Heart, Testes

Publications for Short Qt Syndrome

Articles related to Short Qt Syndrome:

(show top 50) (show all 153)
# Title Authors Year
1
The Pharmacogenomics of a Mutation 'Hotspot' for the Short QT Syndrome. ( 28966985 )
2017
2
Modelling the effects of quinidine, disopyramide, and E-4031 on short QT syndrome variant 3 in the human ventricles. ( 28812984 )
2017
3
Short QT syndrome in pediatrics. ( 28303324 )
2017
4
Multiple clinical profiles of families with the short QT syndrome. ( 29016797 )
2017
5
Modelling the effects of chloroquine on<i>KCNJ2</i>-linked short QT syndrome. ( 29290967 )
2017
6
In silico investigation of a KCNQ1 mutation associated with short QT syndrome. ( 28814790 )
2017
7
Shortening of the Short Refractory Periods in Short QT Syndrome. ( 28566296 )
2017
8
Could ivabradine be a new treatment for the short QT syndrome? ( 28640933 )
2017
9
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. ( 28609477 )
2017
10
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. ( 29167417 )
2017
11
Effects of amiodarone on short QT syndrome variant 3 in human ventricles: a simulation study. ( 28592292 )
2017
12
Antiarrhythmic properties of ivabradine in an experimental model of Short-QT- Syndrome. ( 28556923 )
2017
13
Effects of island-distribution of mid-cardiomyocytes on ventricular electrical excitation associated with the KCNQ1-linked short QT syndrome. ( 29060698 )
2017
14
Modeling the effects of amiodarone on short QT syndrome variant 2 in the human ventricles. ( 29060841 )
2017
15
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles. ( 29085299 )
2017
16
Short QT syndrome and ventricular tachycardia. ( 28165781 )
2017
17
The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. ( 28569435 )
2017
18
Pro-arrhythmogenic Effects of the V141M KCNQ1 Mutation in Short QT Syndrome and Its Potential Therapeutic Targets: Insights from Modeling. ( 29213224 )
2017
19
Novel trigenic CACNA1C/DES/MYPN mutations in a family of hypertrophic cardiomyopathy with early repolarization and short QT syndrome. ( 28427417 )
2017
20
Therapeutic effects of a taurine-magnesium coordination compound on experimental models of type 2 short QT syndrome. ( 29072257 )
2017
21
Short QT Syndrome and Hydroquinidine: Rare Diseases and Unavailable Drugs. ( 29241490 )
2017
22
Impact of QTc formulae in the prevalence of short corrected QT interval and impact on probability and diagnosis of short QT syndrome. ( 28954836 )
2017
23
In silico assessment of the effects of quinidine, disopyramide and E-4031 on short QT syndrome variant 1 in the human ventricles. ( 28632743 )
2017
24
Bystander Cardio Pulmonary Resuscitation Saves Life in a Patient with Short QT Syndrome. ( 27771688 )
2016
25
Ranolazine and Vernakalant Prevent Ventricular Arrhythmias in an Experimental Whole-Heart Model of Short QT Syndrome. ( 27283775 )
2016
26
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477827 )
2016
27
Use of a subcutaneous ICD in a patient with short QT syndrome. ( 26783432 )
2016
28
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
29
Considering Ranolazine as a Potential Treatment for K(+) Channel Linked Short QT Syndrome. ( 27477620 )
2016
30
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome. ( 25974115 )
2015
31
Short QT syndrome in a 14-year-old patient: The first pediatric case from Turkey. ( 26139173 )
2015
32
Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2. ( 26346102 )
2015
33
Usefulness of exercise test in the diagnosis of short QT syndrome. ( 25833882 )
2015
34
Reply to the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142294 )
2015
35
New echocardiographic insights in short QT syndrome: More than a channelopathy? ( 26001507 )
2015
36
A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome. ( 26168993 )
2015
37
Carnitine deficiency induces a short QT syndrome. ( 26190315 )
2015
38
Computational analysis of the electromechanical consequences of short QT syndrome. ( 25717305 )
2015
39
To the Editor--Altered in vivo systolic function in the short QT syndrome anticipated in silico. ( 26142296 )
2015
40
Short QT Syndrome in Current Clinical Practice. ( 26440650 )
2015
41
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
42
Sudden Cardiac Death and Short QT Syndrome. ( 25317944 )
2014
43
PQ segment depression in patients with short QT syndrome: a novel marker for diagnosing short QT syndrome? ( 24589867 )
2014
44
To the Editor--PQ-segment depression in short QT syndrome: a commendable observation, yet some facts need further exploration. ( 24768610 )
2014
45
Short QT syndrome in a boy diagnosed on screening for heart disease. ( 25335996 )
2014
46
Reply to the Editor--PQ-segment depression in short QT syndrome patients: a novel marker for diagnosing short QT syndrome? ( 24768854 )
2014
47
Short QT syndrome and idiopathic ventricular tachycardia in a 28-year-old young man: a potential disease-specific link? ( 25082947 )
2014
48
Short QT syndrome: a predictable story. ( 24818800 )
2014
49
Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia. ( 24818999 )
2014
50
Short QT Syndrome - Review of Diagnosis and Treatment. ( 26835070 )
2014

Variations for Short Qt Syndrome

ClinVar genetic disease variations for Short Qt Syndrome:

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

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 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 CACNA1C CACNA2D1 CACNB2 SCN3B SCN5A
2
Show member pathways
12.78 CACNA2D1 CACNB2 KCNH2 KCNJ2 KCNQ1
3
Show member pathways
12.62 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2
4
Show member pathways
12.52 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNQ1 SCN5A
5
Show member pathways
12.51 CACNA1C CACNA2D1 CACNB2 KCNJ2
6
Show member pathways
12.2 CACNA1C CACNA2D1 CACNB2 DES
7 12.16 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
8
Show member pathways
12.1 CACNA1C CACNA2D1 CACNB2
9
Show member pathways
12 CACNA1C CACNA2D1 CACNB2 DES
10
Show member pathways
11.98 KCNE2 KCNJ2 KCNQ1
11 11.95 KCNH2 KCNQ1 SCN3B SCN5A
12
Show member pathways
11.92 KCNH2 KCNJ2 KCNQ1
13 11.89 CACNA1C CACNA2D1 CACNB2
14
Show member pathways
11.84 CACNA1C CACNA2D1 CACNB2
15 11.58 CACNA1C CACNA2D1 CACNB2
16 11.39 CACNA1C CACNA2D1 CACNB2 KCNQ1
17 11.36 CACNA1C CACNB2 KCNE1 KCNE2 KCNH2 KCNJ2
18 11.34 CACNA1C CACNA2D1 CACNB2
19 11.17 CACNA1C CACNB2
20
Show member pathways
11.1 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNQ1
21 11.07 SCN3B SCN5A
22 10.86 KCNE1 KCNJ2 KCNQ1

GO Terms for Short Qt Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.8 KCNE1 KCNE2 KCNH2 SCN5A
2 sarcolemma GO:0042383 9.61 CACNB2 DES SCN5A
3 intercalated disc GO:0014704 9.58 DES KCNJ2 SCN5A
4 T-tubule GO:0030315 9.54 CACNA2D1 KCNJ2 SCN5A
5 voltage-gated calcium channel complex GO:0005891 9.5 CACNA1C CACNA2D1 CACNB2
6 voltage-gated sodium channel complex GO:0001518 9.46 SCN3B SCN5A
7 voltage-gated potassium channel complex GO:0008076 9.35 KCNE1 KCNE2 KCNH2 KCNJ2 KCNQ1
8 L-type voltage-gated calcium channel complex GO:1990454 9.33 CACNA1C CACNA2D1 CACNB2
9 Z disc GO:0030018 9.1 CACNA1C DES KCNE1 MYPN SCN3B SCN5A
10 membrane GO:0016020 10.22 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2
11 plasma membrane GO:0005886 10 CACNA1C CACNA2D1 CACNB2 DES KCNE1 KCNE2

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

(show all 44)
# 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 heart rate by cardiac conduction GO:0086091 9.96 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
4 cardiac muscle contraction GO:0060048 9.9 KCNH2 KCNQ1 SCN3B SCN5A
5 calcium ion transport GO:0006816 9.86 CACNA1C CACNA2D1 CACNB2
6 calcium ion transmembrane transport GO:0070588 9.85 CACNA1C CACNA2D1 CACNB2
7 positive regulation of potassium ion transmembrane transport GO:1901381 9.85 KCNE1 KCNH2 KCNJ2 KCNQ1
8 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.85 CACNA2D1 KCNE1 KCNE2 KCNH2 KCNQ1 SCN5A
9 regulation of ion transmembrane transport GO:0034765 9.85 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
10 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.84 CACNA1C KCNJ2 SCN3B SCN5A
11 cellular response to drug GO:0035690 9.83 KCNE2 KCNH2 KCNQ1
12 regulation of membrane repolarization GO:0060306 9.83 KCNE2 KCNH2 KCNJ2 KCNQ1
13 membrane repolarization GO:0086009 9.81 KCNE1 KCNE2 KCNH2 KCNQ1
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 ventricular cardiac muscle cell action potential GO:0086005 9.8 KCNE1 KCNE2 KCNH2 KCNQ1 SCN3B SCN5A
17 membrane depolarization during action potential GO:0086010 9.79 KCNH2 SCN3B SCN5A
18 regulation of potassium ion transmembrane transport GO:1901379 9.79 KCNE1 KCNE2 KCNH2
19 atrial cardiac muscle cell action potential GO:0086014 9.78 KCNQ1 SCN3B SCN5A
20 potassium ion export GO:0071435 9.78 KCNE1 KCNE2 KCNH2 KCNQ1
21 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.76 KCNE1 KCNE2 KCNH2 KCNQ1
22 membrane depolarization during AV node cell action potential GO:0086045 9.75 CACNA1C CACNB2 SCN5A
23 membrane depolarization during atrial cardiac muscle cell action potential GO:0098912 9.73 CACNA1C CACNB2 SCN5A
24 regulation of heart contraction GO:0008016 9.69 DES KCNQ1
25 potassium ion import GO:0010107 9.69 KCNE2 KCNJ2
26 membrane depolarization GO:0051899 9.69 SCN3B SCN5A
27 positive regulation of heart rate GO:0010460 9.68 KCNQ1 SCN3B
28 positive regulation of sodium ion transport GO:0010765 9.68 SCN3B SCN5A
29 calcium ion transport into cytosol GO:0060402 9.67 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 9.66 SCN3B SCN5A
33 regulation of ventricular cardiac muscle cell membrane depolarization GO:0060373 9.66 SCN3B SCN5A
34 regulation of delayed rectifier potassium channel activity GO:1902259 9.65 KCNE1 KCNE2
35 SA node cell action potential GO:0086015 9.65 SCN3B SCN5A
36 cardiac conduction GO:0061337 9.65 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
37 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.64 KCNQ1 SCN5A
38 positive regulation of high voltage-gated calcium channel activity GO:1901843 9.64 CACNA2D1 CACNB2
39 potassium ion export across plasma membrane GO:0097623 9.63 KCNH2 KCNQ1
40 membrane depolarization during bundle of His cell action potential GO:0086048 9.63 CACNA2D1 SCN5A
41 calcium ion transmembrane transport via high voltage-gated calcium channel GO:0061577 9.62 CACNA1C CACNA2D1
42 cardiac muscle cell action potential involved in contraction GO:0086002 9.17 CACNA1C CACNA2D1 KCNE1 KCNE2 KCNJ2 SCN3B
43 transport GO:0006810 10.27 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2
44 ion transport GO:0006811 10.13 CACNA1C CACNA2D1 CACNB2 KCNE1 KCNE2 KCNH2

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.76 CACNA1C KCNQ1 SCN5A
2 ion channel binding GO:0044325 9.76 KCNE2 KCNQ1 SCN3B SCN5A
3 ion channel activity GO:0005216 9.73 CACNA1C KCNH2 SCN5A
4 calcium channel activity GO:0005262 9.71 CACNA1C CACNA2D1 CACNB2
5 potassium channel activity GO:0005267 9.71 KCNE1 KCNE2 KCNH2 KCNQ1
6 scaffold protein binding GO:0097110 9.7 KCNH2 KCNQ1 SCN5A
7 voltage-gated potassium channel activity GO:0005249 9.67 KCNE1 KCNE2 KCNH2 KCNQ1
8 voltage-gated calcium channel activity GO:0005245 9.65 CACNA1C CACNA2D1 CACNB2
9 inward rectifier potassium channel activity GO:0005242 9.61 KCNE2 KCNH2 KCNJ2
10 potassium channel regulator activity GO:0015459 9.59 KCNE1 KCNE2
11 sodium channel activity GO:0005272 9.58 SCN3B SCN5A
12 voltage-gated sodium channel activity GO:0005248 9.57 SCN3B SCN5A
13 delayed rectifier potassium channel activity GO:0005251 9.56 KCNE1 KCNE2 KCNH2 KCNQ1
14 high voltage-gated calcium channel activity GO:0008331 9.55 CACNA1C CACNB2
15 voltage-gated sodium channel activity involved in cardiac muscle cell action potential GO:0086006 9.51 SCN3B SCN5A
16 voltage-gated calcium channel activity involved in cardiac muscle cell action potential GO:0086007 9.5 CACNA1C CACNA2D1 CACNB2
17 voltage-gated calcium channel activity involved in AV node cell action potential GO:0086056 9.49 CACNA1C CACNB2
18 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.46 KCNE1 KCNE2 KCNH2 KCNQ1
19 voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization GO:0086008 9.26 KCNE1 KCNH2 KCNJ2 KCNQ1
20 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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