BRGDA1
MCID: BRG005
MIFTS: 45

Brugada Syndrome 1 (BRGDA1)

Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Brugada Syndrome 1

MalaCards integrated aliases for Brugada Syndrome 1:

Name: Brugada Syndrome 1 58 12 76 30 13 6 15
Brgda1 58 12 76
Right Bundle Branch Block, St Segment Elevation, and Sudden Death Syndrome 58
Sudden Unexplained Nocturnal Death Syndrome; Sunds 58
Sudden Unexplained Nocturnal Death Syndrome 58
Brugada Syndrome, Type 1 41
Brugada Syndrome 74
Sunds 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
brugada syndrome 1:
Clinical modifier sudden death
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110218
OMIM 58 601144
MeSH 45 D053840
ICD10 34 I49.8
UMLS 74 C1142166

Summaries for Brugada Syndrome 1

OMIM : 58 Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). (601144)

MalaCards based summary : Brugada Syndrome 1, also known as brgda1, is related to brugada syndrome and brugada syndrome 2. An important gene associated with Brugada Syndrome 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Transmission across Chemical Synapses and Cardiac conduction. Affiliated tissues include heart and testes, and related phenotypes are cardiac arrest and right bundle branch block

Disease Ontology : 12 A Brugada syndrome that has material basis in heterozygous mutation in the SCN5A gene on chromosome 3p22.

UniProtKB/Swiss-Prot : 76 Brugada syndrome 1: A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.

Related Diseases for Brugada Syndrome 1

Diseases in the Brugada Syndrome family:

Brugada Syndrome 1 Brugada Syndrome 2
Brugada Syndrome 3 Brugada Syndrome 4
Brugada Syndrome 5 Brugada Syndrome 6
Brugada Syndrome 7 Brugada Syndrome 8
Brugada Syndrome 9

Diseases related to Brugada Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 34, show less)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 31.4 AKAP9 KCNA5 KCNH2 KCNJ8 LOC105369689 SCN5A
2 brugada syndrome 2 11.1
3 brugada syndrome 3 11.1
4 brugada syndrome 4 11.1
5 brugada syndrome 5 11.1
6 brugada syndrome 6 11.1
7 brugada syndrome 8 11.1
8 brugada syndrome 9 11.1
9 long qt syndrome 13 10.1 KCNH2 SCN5A
10 long qt syndrome 12 10.1 KCNH2 SCN5A
11 long qt syndrome 3 10.1 KCNH2 SCN5A
12 syncope 10.0 KCNH2 SCN5A
13 jervell and lange-nielsen syndrome 1 10.0 KCNH2 SCN5A
14 atrioventricular block 9.9 KCNH2 SCN5A
15 myasthenic syndrome, congenital, 5 9.7 KCNH2 RYR2
16 cardiac conduction defect 9.7 KCNH2 RYR2 SCN5A
17 ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy 9.7 KCNH2 RYR2 SCN5A
18 ventricular fibrillation, paroxysmal familial, 1 9.7 KCNH2 RYR2 SCN5A
19 long qt syndrome 6 9.7 KCNH2 RYR2 SCN5A
20 cardiac arrhythmia 9.7 KCNH2 RYR2 SCN5A
21 andersen cardiodysrhythmic periodic paralysis 9.6 KCNH2 RYR2 SCN5A
22 intrinsic cardiomyopathy 9.6 KCNH2 RYR2 SCN5A
23 catecholaminergic polymorphic ventricular tachycardia 9.6 KCNH2 RYR2 SCN5A
24 arrhythmogenic right ventricular cardiomyopathy 9.6 KCNH2 RYR2 SCN5A
25 familial atrial fibrillation 9.6 KCNA5 KCNH2 LOC105369689 SCN5A
26 long qt syndrome 5 9.5 AKAP9 KCNH2 RYR2 SCN5A
27 long qt syndrome 2 9.5 AKAP9 KCNH2 RYR2 SCN5A
28 long qt syndrome 1 9.5 AKAP9 KCNH2 RYR2 SCN5A
29 cardiac arrest 9.5 AKAP9 KCNH2 RYR2 SCN5A
30 heart conduction disease 9.4 KCNA5 KCNH2 RYR2 SCN5A
31 atrial fibrillation 9.4 KCNA5 KCNH2 RYR2 SCN5A
32 heart disease 9.3 KCNH2 RYR2 SCN5A
33 sudden infant death syndrome 9.3 KCNH2 KCNJ8 RYR2 SCN5A
34 long qt syndrome 9.2 AKAP9 KCNA5 KCNH2 RYR2 SCN5A

Graphical network of the top 20 diseases related to Brugada Syndrome 1:



Diseases related to Brugada Syndrome 1

Symptoms & Phenotypes for Brugada Syndrome 1

Human phenotypes related to Brugada Syndrome 1:

33 (showing 3, show less)
# Description HPO Frequency HPO Source Accession
1 cardiac arrest 33 HP:0001695
2 right bundle branch block 33 HP:0011712
3 ventricular fibrillation 33 HP:0001663

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular Heart:
sudden death
cardiac arrest
right bundle branch block and st segment elevation on ecg
idiopathic ventricular fibrillation

Clinical features from OMIM:

601144

MGI Mouse Phenotypes related to Brugada Syndrome 1:

47 (showing 2, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 KCNA5 KCNH2 KCNJ8 RYR2 SCN5A
2 muscle MP:0005369 8.92 KCNA5 KCNH2 RYR2 SCN5A

Drugs & Therapeutics for Brugada Syndrome 1

Search Clinical Trials , NIH Clinical Center for Brugada Syndrome 1

Genetic Tests for Brugada Syndrome 1

Genetic tests related to Brugada Syndrome 1:

# Genetic test Affiliating Genes
1 Brugada Syndrome 1 30 SCN5A

Anatomical Context for Brugada Syndrome 1

MalaCards organs/tissues related to Brugada Syndrome 1:

42
Heart, Testes

Publications for Brugada Syndrome 1

Articles related to Brugada Syndrome 1:

(showing 27, show less)
# Title Authors Year
1
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
4
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. ( 23994779 )
2013
5
Unraveling the Enigma of Bangungut: Is Sudden Unexplained Nocturnal Death Syndrome (SUNDS) in the Philippines a Disease Allelic to the Brugada Syndrome? ( 22844180 )
2011
6
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
7
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel. ( 18599870 )
2008
8
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. ( 18451998 )
2008
9
Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. ( 18378609 )
2008
10
A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. ( 16707561 )
2006
11
R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. ( 15689442 )
2005
12
Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. ( 15338453 )
2004
13
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. ( 15579534 )
2004
14
Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. ( 15851227 )
2004
15
The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. ( 15121794 )
2004
16
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). ( 14523039 )
2003
17
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. ( 11823453 )
2002
18
Na(+) channel mutation that causes both Brugada and long-QT syndrome phenotypes: a simulation study of mechanism. ( 11889015 )
2002
19
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. ( 11748104 )
2001
20
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. ( 11410597 )
2001
21
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit. ( 10618304 )
2000
22
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. ( 10532948 )
1999
23
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. ( 10690282 )
1999
24
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel. ( 10377081 )
1999
25
A single Na(+) channel mutation causing both long-QT and Brugada syndromes. ( 10590249 )
1999
26
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. ( 9521325 )
1998
27
Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. ( 8661019 )
1996

Variations for Brugada Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Brugada Syndrome 1:

76 (showing 86, show less)
# Symbol AA change Variation ID SNP ID
1 SCN5A p.Arg1623Gln VAR_001578 rs137854600
2 SCN5A p.Glu1784Lys VAR_008959 rs137854601
3 SCN5A p.Leu1501Val VAR_009936 rs199473266
4 SCN5A p.Leu619Phe VAR_015682 rs199473133
5 SCN5A p.Thr220Ile VAR_017670 rs45620037
6 SCN5A p.Arg367His VAR_017672 rs28937318
7 SCN5A p.Gly514Cys VAR_017673 rs137854606
8 SCN5A p.Ala735Val VAR_017674 rs137854611
9 SCN5A p.Arg1193Gln VAR_017678 rs41261344
10 SCN5A p.Arg1232Trp VAR_017679 rs199473207
11 SCN5A p.Gly1408Arg VAR_017681 rs137854612
12 SCN5A p.Arg1512Trp VAR_017682 rs137854602
13 SCN5A p.Thr1620Met VAR_017684 rs199473282
14 SCN5A p.Ala1924Thr VAR_017688 rs137854603
15 SCN5A p.Tyr1795His VAR_019124 rs137854615
16 SCN5A p.Arg27His VAR_026341 rs199473045
17 SCN5A p.Lys126Glu VAR_026343 rs185492581
18 SCN5A p.Glu161Lys VAR_026344 rs199473062
19 SCN5A p.Thr187Ile VAR_026345 rs199473558
20 SCN5A p.Ala226Val VAR_026346 rs199473561
21 SCN5A p.Ile230Val VAR_026347 rs199473074
22 SCN5A p.Arg282His VAR_026348 rs199473083
23 SCN5A p.Val294Met VAR_026349 rs199473086
24 SCN5A p.Gly319Ser VAR_026350 rs199473090
25 SCN5A p.Gly351Val VAR_026351 rs199473095
26 SCN5A p.Asp356Asn VAR_026352 rs199473565
27 SCN5A p.Arg367Cys VAR_026353 rs199473097
28 SCN5A p.Met369Lys VAR_026354 rs199473098
29 SCN5A p.Gly552Arg VAR_026356 rs3918389
30 SCN5A p.Leu567Gln VAR_026357 rs199473124
31 SCN5A p.Gly615Glu VAR_026358 rs12720452
32 SCN5A p.His681Pro VAR_026359 rs199473143
33 SCN5A p.Ala735Glu VAR_026360 rs137854611
34 SCN5A p.Gly752Arg VAR_026361 rs199473153
35 SCN5A p.Phe851Leu VAR_026362 rs199473586
36 SCN5A p.Phe892Ile VAR_026363 rs199473170
37 SCN5A p.Cys896Ser VAR_026364 rs199473173
38 SCN5A p.Ser910Leu VAR_026365 rs199473175
39 SCN5A p.Arg965Cys VAR_026366 rs199473180
40 SCN5A p.Glu1053Lys VAR_026368 rs137854617
41 SCN5A p.Glu1225Lys VAR_026369 rs199473204
42 SCN5A p.Lys1236Asn VAR_026370 rs199473208
43 SCN5A p.Glu1240Gln VAR_026371 rs199473211
44 SCN5A p.Asp1275Asn VAR_026373 rs137854618
45 SCN5A p.Gly1319Val VAR_026375 rs199473220
46 SCN5A p.Phe1344Ser VAR_026376 rs199473229
47 SCN5A p.Ser1382Ile VAR_026377 rs199473608
48 SCN5A p.Val1405Leu VAR_026378 rs199473239
49 SCN5A p.Gly1406Arg VAR_026379 rs199473240
50 SCN5A p.Gly1502Ser VAR_026382 rs199473267
51 SCN5A p.Asp1714Gly VAR_026383 rs199473628
52 SCN5A p.Gly1740Arg VAR_026384 rs199473304
53 SCN5A p.Gly1743Glu VAR_026385 rs199473629
54 SCN5A p.Val95Ile VAR_055160 rs199473054
55 SCN5A p.Arg225Trp VAR_055164 rs199473072
56 SCN5A p.Pro336Leu VAR_055167 rs199473093
57 SCN5A p.Thr353Ile VAR_055168 rs199473096
58 SCN5A p.Asn406Ser VAR_055171 rs199473568
59 SCN5A p.Phe532Cys VAR_055177 rs199473573
60 SCN5A p.Arg814Gln VAR_055182 rs199473584
61 SCN5A p.Arg878Cys VAR_055183 rs199473168
62 SCN5A p.Arg1023His VAR_055184 rs199473592
63 SCN5A p.Tyr1494Asn VAR_055196 rs199473261
64 SCN5A p.Lys1527Arg VAR_055198 rs199473270
65 SCN5A p.Ala1569Pro VAR_055199 rs199473273
66 SCN5A p.Arg1644Cys VAR_055203 rs199473287
67 SCN5A p.Ala1649Val VAR_055204 rs199473289
68 SCN5A p.Ile1660Val VAR_055206 rs199473625
69 SCN5A p.Gly1743Arg VAR_055208 rs199473305
70 SCN5A p.Cys1850Ser VAR_055215 rs199473322
71 SCN5A p.Ile1968Ser VAR_055220 rs199473639
72 SCN5A p.Phe2004Leu VAR_055221 rs41311117
73 SCN5A p.Pro648Leu VAR_068332 rs45609733
74 SCN5A p.Val1667Ile VAR_068338 rs199473293
75 SCN5A p.Thr1779Met VAR_068339 rs199473634
76 SCN5A p.Arg222Gln VAR_074332 rs45546039
77 SCN5A p.Val240Met VAR_074334 rs199473076
78 SCN5A p.Pro701Leu VAR_074376 rs199473147
79 SCN5A p.Asp772Asn VAR_074382 rs199473157
80 SCN5A p.Arg1432Ser VAR_074441 rs199473246
81 SCN5A p.Arg1629Gln VAR_074460 rs199473623
82 SCN5A p.Phe2004Val VAR_074484 rs41311117
83 SCN5A p.Leu812Gln VAR_076555
84 SCN5A p.Lys817Glu VAR_076556
85 SCN5A p.Asp1690Asn VAR_076557 rs106049990
86 SCN5A p.Gly1748Asp VAR_076558

ClinVar genetic disease variations for Brugada Syndrome 1:

6 (showing 138, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh37 Chromosome 3, 38608046: 38608046
2 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh38 Chromosome 3, 38566555: 38566555
3 SCN5A NM_000335.4(SCN5A): c.611+3_611+4dupAA duplication Pathogenic rs397514252 GRCh37 Chromosome 3, 38662330: 38662331
4 SCN5A NM_000335.4(SCN5A): c.611+3_611+4dupAA duplication Pathogenic rs397514252 GRCh38 Chromosome 3, 38620839: 38620840
5 SCN5A NM_198056.2(SCN5A): c.4190delA (p.Lys1397Argfs) deletion Pathogenic rs397514446 GRCh37 Chromosome 3, 38601693: 38601693
6 SCN5A NM_198056.2(SCN5A): c.4190delA (p.Lys1397Argfs) deletion Pathogenic rs397514446 GRCh38 Chromosome 3, 38560202: 38560202
7 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
8 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
9 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh37 Chromosome 3, 38597155: 38597155
10 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh38 Chromosome 3, 38555664: 38555664
11 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh37 Chromosome 3, 38592093: 38592093
12 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh38 Chromosome 3, 38550602: 38550602
13 SCN5A NM_198056.2(SCN5A): c.5385_5387dupTGA (p.Tyr1795_Glu1796insAsp) duplication Pathogenic rs397514449 GRCh37 Chromosome 3, 38592476: 38592478
14 SCN5A NM_198056.2(SCN5A): c.5385_5387dupTGA (p.Tyr1795_Glu1796insAsp) duplication Pathogenic rs397514449 GRCh38 Chromosome 3, 38550985: 38550987
15 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
16 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
17 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
18 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh38 Chromosome 3, 38606709: 38606709
19 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
20 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh38 Chromosome 3, 38597787: 38597787
21 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh37 Chromosome 3, 38616876: 38616876
22 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh38 Chromosome 3, 38575385: 38575385
23 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
24 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
25 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
26 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh38 Chromosome 3, 38550989: 38550989
27 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh37 Chromosome 3, 38645558: 38645558
28 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh38 Chromosome 3, 38604067: 38604067
29 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
30 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh38 Chromosome 3, 38566465: 38566465
31 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh37 Chromosome 3, 38622493: 38622493
32 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh38 Chromosome 3, 38581002: 38581002
33 SCN5A NM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter) single nucleotide variant Pathogenic rs137854620 GRCh37 Chromosome 3, 38598759: 38598759
34 SCN5A NM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter) single nucleotide variant Pathogenic rs137854620 GRCh38 Chromosome 3, 38557268: 38557268
35 SCN5A NM_000335.4(SCN5A): c.694G> A (p.Val232Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45471994 GRCh37 Chromosome 3, 38655243: 38655243
36 SCN5A NM_000335.4(SCN5A): c.694G> A (p.Val232Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45471994 GRCh38 Chromosome 3, 38613752: 38613752
37 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
38 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh38 Chromosome 3, 38551513: 38551513
39 SCN5A NM_000335.4(SCN5A): c.3919C> T (p.Leu1307Phe) single nucleotide variant Benign rs41313031 GRCh37 Chromosome 3, 38603947: 38603947
40 SCN5A NM_000335.4(SCN5A): c.3919C> T (p.Leu1307Phe) single nucleotide variant Benign rs41313031 GRCh38 Chromosome 3, 38562456: 38562456
41 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh37 Chromosome 3, 38647498: 38647498
42 SCN5A NM_000335.4(SCN5A): c.1282G> A (p.Glu428Lys) single nucleotide variant Uncertain significance rs199473111 GRCh38 Chromosome 3, 38606007: 38606007
43 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh37 Chromosome 3, 38655272: 38655272
44 SCN5A NM_198056.2(SCN5A): c.665G> A (p.Arg222Gln) single nucleotide variant Pathogenic rs45546039 GRCh38 Chromosome 3, 38613781: 38613781
45 SCN5A NM_001099404.1(SCN5A): c.1441C> T (p.Arg481Trp) single nucleotide variant Benign/Likely benign rs144511230 GRCh37 Chromosome 3, 38646297: 38646297
46 SCN5A NM_001099404.1(SCN5A): c.1441C> T (p.Arg481Trp) single nucleotide variant Benign/Likely benign rs144511230 GRCh38 Chromosome 3, 38604806: 38604806
47 SCN5A NM_198056.2(SCN5A): c.1571C> A (p.Ser524Tyr) single nucleotide variant Benign/Likely benign rs41313691 GRCh37 Chromosome 3, 38645522: 38645522
48 SCN5A NM_198056.2(SCN5A): c.1571C> A (p.Ser524Tyr) single nucleotide variant Benign/Likely benign rs41313691 GRCh38 Chromosome 3, 38604031: 38604031
49 SCN5A NM_198056.2(SCN5A): c.5540G> A (p.Arg1847His) single nucleotide variant Uncertain significance rs369058100 GRCh37 Chromosome 3, 38592323: 38592323
50 SCN5A NM_198056.2(SCN5A): c.5540G> A (p.Arg1847His) single nucleotide variant Uncertain significance rs369058100 GRCh38 Chromosome 3, 38550832: 38550832
51 SCN5A NM_198056.2(SCN5A): c.6010T> C (p.Phe2004Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41311117 GRCh37 Chromosome 3, 38591853: 38591853
52 SCN5A NM_198056.2(SCN5A): c.6010T> C (p.Phe2004Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41311117 GRCh38 Chromosome 3, 38550362: 38550362
53 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199473565 GRCh37 Chromosome 3, 38648234: 38648234
54 SCN5A NM_198056.2(SCN5A): c.1066G> A (p.Asp356Asn) single nucleotide variant Pathogenic/Likely pathogenic rs199473565 GRCh38 Chromosome 3, 38606743: 38606743
55 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh37 Chromosome 3, 38648201: 38648201
56 SCN5A NM_198056.2(SCN5A): c.1099C> T (p.Arg367Cys) single nucleotide variant Pathogenic/Likely pathogenic rs199473097 GRCh38 Chromosome 3, 38606710: 38606710
57 SCN5A NM_198056.2(SCN5A): c.142G> A (p.Glu48Lys) single nucleotide variant Uncertain significance rs199473048 GRCh37 Chromosome 3, 38674657: 38674657
58 SCN5A NM_198056.2(SCN5A): c.142G> A (p.Glu48Lys) single nucleotide variant Uncertain significance rs199473048 GRCh38 Chromosome 3, 38633166: 38633166
59 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh37 Chromosome 3, 38645526: 38645526
60 SCN5A NM_198056.2(SCN5A): c.1567C> T (p.Arg523Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473119 GRCh38 Chromosome 3, 38604035: 38604035
61 SCN5A NM_000335.4(SCN5A): c.2074C> A (p.Gln692Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45553235 GRCh37 Chromosome 3, 38639408: 38639408
62 SCN5A NM_000335.4(SCN5A): c.2074C> A (p.Gln692Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs45553235 GRCh38 Chromosome 3, 38597917: 38597917
63 SCN5A NM_198056.2(SCN5A): c.2677C> T (p.Arg893Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473171 GRCh37 Chromosome 3, 38627292: 38627292
64 SCN5A NM_198056.2(SCN5A): c.2677C> T (p.Arg893Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473171 GRCh38 Chromosome 3, 38585801: 38585801
65 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh37 Chromosome 3, 38622532: 38622532
66 SCN5A NM_198056.2(SCN5A): c.3118G> A (p.Gly1040Arg) single nucleotide variant Uncertain significance rs199473186 GRCh38 Chromosome 3, 38581041: 38581041
67 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh37 Chromosome 3, 38616898: 38616898
68 SCN5A NM_198056.2(SCN5A): c.3556G> A (p.Ala1186Thr) single nucleotide variant Uncertain significance rs199473595 GRCh38 Chromosome 3, 38575407: 38575407
69 SCN5A NM_198056.2(SCN5A): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473556 GRCh37 Chromosome 3, 38671833: 38671833
70 SCN5A NM_198056.2(SCN5A): c.361C> T (p.Arg121Trp) single nucleotide variant Pathogenic/Likely pathogenic rs199473556 GRCh38 Chromosome 3, 38630342: 38630342
71 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh37 Chromosome 3, 38595797: 38595797
72 SCN5A NM_198056.2(SCN5A): c.4786T> A (p.Phe1596Ile) single nucleotide variant Uncertain significance rs199473278 GRCh38 Chromosome 3, 38554306: 38554306
73 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh37 Chromosome 3, 38592174: 38592174
74 SCN5A NM_000335.4(SCN5A): c.5686C> T (p.Arg1896Trp) single nucleotide variant Uncertain significance rs45465995 GRCh38 Chromosome 3, 38550683: 38550683
75 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh37 Chromosome 3, 38592125: 38592125
76 SCN5A NM_198056.2(SCN5A): c.5738G> A (p.Arg1913His) single nucleotide variant Uncertain significance rs199473327 GRCh38 Chromosome 3, 38550634: 38550634
77 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh37 Chromosome 3, 38592060: 38592060
78 SCN5A NM_198056.2(SCN5A): c.5803G> A (p.Gly1935Ser) single nucleotide variant Uncertain significance rs199473637 GRCh38 Chromosome 3, 38550569: 38550569
79 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh37 Chromosome 3, 38591959: 38591959
80 SCN5A NM_198056.2(SCN5A): c.5904C> G (p.Ile1968Met) single nucleotide variant Uncertain significance rs199473333 GRCh38 Chromosome 3, 38550468: 38550468
81 SCN5A NM_198056.2(SCN5A): c.6016C> G (p.Pro2006Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45489199 GRCh37 Chromosome 3, 38591847: 38591847
82 SCN5A NM_198056.2(SCN5A): c.6016C> G (p.Pro2006Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs45489199 GRCh38 Chromosome 3, 38550356: 38550356
83 SCN5A NM_198056.2(SCN5A): c.844C> T (p.Arg282Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473082 GRCh37 Chromosome 3, 38651315: 38651315
84 SCN5A NM_198056.2(SCN5A): c.844C> T (p.Arg282Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199473082 GRCh38 Chromosome 3, 38609824: 38609824
85 SCN5A NM_198056.2(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 GRCh37 Chromosome 3, 38651314: 38651314
86 SCN5A NM_198056.2(SCN5A): c.845G> A (p.Arg282His) single nucleotide variant Pathogenic rs199473083 GRCh38 Chromosome 3, 38609823: 38609823
87 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh37 Chromosome 3, 38651279: 38651279
88 SCN5A NM_198056.2(SCN5A): c.880G> A (p.Val294Met) single nucleotide variant Uncertain significance rs199473086 GRCh38 Chromosome 3, 38609788: 38609788
89 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh38 Chromosome 3, 38550586: 38550586
90 SCN5A NM_198056.2(SCN5A): c.5786G> A (p.Arg1929His) single nucleotide variant Uncertain significance rs727504822 GRCh37 Chromosome 3, 38592077: 38592077
91 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh37 Chromosome 3, 38674647: 38674647
92 SCN5A NM_198056.2(SCN5A): c.152C> T (p.Ala51Val) single nucleotide variant Uncertain significance rs727505131 GRCh38 Chromosome 3, 38633156: 38633156
93 AKAP9 NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144888041 GRCh37 Chromosome 7, 91622303: 91622303
94 AKAP9 NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144888041 GRCh38 Chromosome 7, 91992989: 91992989
95 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh37 Chromosome 12, 5155046: 5155046
96 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh38 Chromosome 12, 5045880: 5045880
97 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh37 Chromosome 3, 38591991: 38591991
98 SCN5A NM_198056.2(SCN5A): c.5872C> T (p.Arg1958Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757532106 GRCh38 Chromosome 3, 38550500: 38550500
99 SCN5A NM_198056.2(SCN5A): c.4140_4142delCAA (p.Asn1380del) deletion Likely pathogenic rs794728922 GRCh37 Chromosome 3, 38601741: 38601743
100 SCN5A NM_198056.2(SCN5A): c.4140_4142delCAA (p.Asn1380del) deletion Likely pathogenic rs794728922 GRCh38 Chromosome 3, 38560250: 38560252
101 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh37 Chromosome 3, 38622726: 38622726
102 SCN5A NM_198056.2(SCN5A): c.2924G> A (p.Arg975Gln) single nucleotide variant Uncertain significance rs753149586 GRCh38 Chromosome 3, 38581235: 38581235
103 SCN5A NM_198056.2(SCN5A): c.611+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794728843 GRCh37 Chromosome 3, 38662333: 38662333
104 SCN5A NM_198056.2(SCN5A): c.611+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794728843 GRCh38 Chromosome 3, 38620842: 38620842
105 KCNH2 NM_000238.3(KCNH2): c.2606C> T (p.Pro869Leu) single nucleotide variant Uncertain significance rs763031434 GRCh37 Chromosome 7, 150645618: 150645618
106 KCNH2 NM_000238.3(KCNH2): c.2606C> T (p.Pro869Leu) single nucleotide variant Uncertain significance rs763031434 GRCh38 Chromosome 7, 150948530: 150948530
107 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh37 Chromosome 3, 38628928: 38628928
108 SCN5A NM_198056.2(SCN5A): c.2399G> A (p.Arg800His) single nucleotide variant Uncertain significance rs566251672 GRCh38 Chromosome 3, 38587437: 38587437
109 SCN5A NM_198056.2(SCN5A): c.1045G> A (p.Asp349Asn) single nucleotide variant Uncertain significance rs779687673 GRCh38 Chromosome 3, 38606764: 38606764
110 SCN5A NM_198056.2(SCN5A): c.1045G> A (p.Asp349Asn) single nucleotide variant Uncertain significance rs779687673 GRCh37 Chromosome 3, 38648255: 38648255
111 SCN5A NM_198056.2(SCN5A): c.5356_5357delCT (p.Leu1786Glufs) deletion Likely pathogenic rs886037903 GRCh37 Chromosome 3, 38592506: 38592507
112 SCN5A NM_198056.2(SCN5A): c.5356_5357delCT (p.Leu1786Glufs) deletion Likely pathogenic rs886037903 GRCh38 Chromosome 3, 38551015: 38551016
113 SCN5A NM_198056.2(SCN5A): c.4813+3_4813+6dup duplication Likely pathogenic rs886037904 GRCh37 Chromosome 3, 38595764: 38595767
114 SCN5A NM_198056.2(SCN5A): c.4813+3_4813+6dup duplication Likely pathogenic rs886037904 GRCh38 Chromosome 3, 38554273: 38554276
115 SCN5A NM_198056.2(SCN5A): c.536G> A (p.Arg179Gln) single nucleotide variant Uncertain significance rs760585484 GRCh38 Chromosome 3, 38620918: 38620918
116 SCN5A NM_198056.2(SCN5A): c.536G> A (p.Arg179Gln) single nucleotide variant Uncertain significance rs760585484 GRCh37 Chromosome 3, 38662409: 38662409
117 SCN5A NM_198056.2(SCN5A): c.2213A> C (p.His738Pro) single nucleotide variant Uncertain significance rs1135401948 GRCh37 Chromosome 3, 38639269: 38639269
118 SCN5A NM_198056.2(SCN5A): c.2213A> C (p.His738Pro) single nucleotide variant Uncertain significance rs1135401948 GRCh38 Chromosome 3, 38597778: 38597778
119 KCNJ8 NM_004982.3(KCNJ8): c.353C> T (p.Thr118Ile) single nucleotide variant Uncertain significance rs770087869 GRCh38 Chromosome 12, 21773264: 21773264
120 KCNJ8 NM_004982.3(KCNJ8): c.353C> T (p.Thr118Ile) single nucleotide variant Uncertain significance rs770087869 GRCh37 Chromosome 12, 21926198: 21926198
121 SCN5A NM_198056.2(SCN5A): c.468G> A (p.Trp156Ter) single nucleotide variant Pathogenic rs1553605932 GRCh37 Chromosome 3, 38663905: 38663905
122 SCN5A NM_198056.2(SCN5A): c.468G> A (p.Trp156Ter) single nucleotide variant Pathogenic rs1553605932 GRCh38 Chromosome 3, 38622414: 38622414
123 SCN5A NM_198056.2(SCN5A): c.422T> A (p.Ile141Asn) single nucleotide variant Uncertain significance rs772186966 GRCh37 Chromosome 3, 38663951: 38663951
124 SCN5A NM_198056.2(SCN5A): c.422T> A (p.Ile141Asn) single nucleotide variant Uncertain significance rs772186966 GRCh38 Chromosome 3, 38622460: 38622460
125 RYR2 NM_001035.2(RYR2): c.4235A> G (p.Asp1412Gly) single nucleotide variant Uncertain significance rs1553515461 GRCh37 Chromosome 1, 237755113: 237755113
126 RYR2 NM_001035.2(RYR2): c.4235A> G (p.Asp1412Gly) single nucleotide variant Uncertain significance rs1553515461 GRCh38 Chromosome 1, 237591813: 237591813
127 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh37 Chromosome 3, 38622570: 38622570
128 SCN5A NM_198056.2(SCN5A): c.3080G> A (p.Arg1027Gln) single nucleotide variant Uncertain significance rs763891399 GRCh38 Chromosome 3, 38581079: 38581079
129 SCN5A NM_198056.2(SCN5A): c.4471C> T (p.Gln1491Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 38597218: 38597218
130 SCN5A NM_198056.2(SCN5A): c.4471C> T (p.Gln1491Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 38555727: 38555727
131 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 38550577: 38550577
132 SCN5A NM_198056.2(SCN5A): c.5795C> T (p.Ala1932Val) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 38592068: 38592068
133 SCN5A NM_001160161.1(SCN5A): c.615T> G (p.Tyr205Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 38614063: 38614063
134 SCN5A NM_001160161.1(SCN5A): c.615T> G (p.Tyr205Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 38655554: 38655554
135 SCN5A NM_198056.2(SCN5A): c.4312C> T (p.Pro1438Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 3, 38598057: 38598057
136 SCN5A NM_198056.2(SCN5A): c.4312C> T (p.Pro1438Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 3, 38556566: 38556566
137 SCN5A NM_198056.2(SCN5A): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 3, 38622447: 38622447
138 SCN5A NM_198056.2(SCN5A): c.435C> A (p.Cys145Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 3, 38663938: 38663938

Expression for Brugada Syndrome 1

Search GEO for disease gene expression data for Brugada Syndrome 1.

Pathways for Brugada Syndrome 1

Pathways related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(showing 7, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.52 AKAP9 KCNA5 KCNH2 KCNJ8
2
Show member pathways
12.29 AKAP9 KCNH2 RYR2 SCN5A
3 11.81 AKAP9 KCNA5 KCNH2 KCNJ8
4
Show member pathways
11.67 KCNA5 KCNH2 KCNJ8
5 11.47 KCNH2 KCNJ8 RYR2 SCN5A
6
Show member pathways
11.28 AKAP9 SCN5A
7 10.77 KCNA5 KCNH2 KCNJ8 RYR2 SCN5A

GO Terms for Brugada Syndrome 1

Cellular components related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.33 KCNA5 RYR2 SCN5A
2 caveola GO:0005901 9.32 KCNA5 SCN5A
3 intercalated disc GO:0014704 9.26 KCNA5 SCN5A
4 sarcolemma GO:0042383 9.13 KCNJ8 RYR2 SCN5A
5 voltage-gated potassium channel complex GO:0008076 8.92 AKAP9 KCNA5 KCNH2 KCNJ8

Biological processes related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(showing 18, show less)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.86 KCNA5 KCNH2 RYR2 SCN5A
2 ion transport GO:0006811 9.77 KCNA5 KCNH2 KCNJ8 RYR2 SCN5A
3 ion transmembrane transport GO:0034220 9.75 KCNJ8 RYR2 SCN5A
4 potassium ion transport GO:0006813 9.69 KCNA5 KCNH2 KCNJ8
5 potassium ion transmembrane transport GO:0071805 9.67 KCNA5 KCNH2 KCNJ8
6 regulation of heart rate GO:0002027 9.57 RYR2 SCN5A
7 regulation of ion transmembrane transport GO:0034765 9.56 KCNA5 KCNH2 KCNJ8 SCN5A
8 membrane depolarization during action potential GO:0086010 9.55 KCNH2 SCN5A
9 potassium ion homeostasis GO:0055075 9.54 KCNA5 KCNH2
10 potassium ion export across plasma membrane GO:0097623 9.52 KCNA5 KCNH2
11 cardiac muscle contraction GO:0060048 9.5 KCNH2 RYR2 SCN5A
12 membrane repolarization during ventricular cardiac muscle cell action potential GO:0098915 9.48 KCNH2 KCNJ8
13 regulation of membrane repolarization GO:0060306 9.46 AKAP9 KCNH2
14 atrial cardiac muscle cell action potential GO:0086014 9.43 KCNA5 SCN5A
15 regulation of atrial cardiac muscle cell membrane repolarization GO:0060372 9.4 KCNA5 SCN5A
16 regulation of ventricular cardiac muscle cell membrane repolarization GO:0060307 9.33 AKAP9 KCNH2 SCN5A
17 ventricular cardiac muscle cell action potential GO:0086005 9.13 KCNH2 RYR2 SCN5A
18 regulation of heart rate by cardiac conduction GO:0086091 8.92 AKAP9 KCNA5 KCNH2 SCN5A

Molecular functions related to Brugada Syndrome 1 according to GeneCards Suite gene sharing:

(showing 11, show less)
# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 9.65 KCNA5 RYR2 SCN5A
2 potassium channel activity GO:0005267 9.49 KCNA5 KCNH2
3 voltage-gated potassium channel activity GO:0005249 9.46 KCNA5 KCNH2
4 delayed rectifier potassium channel activity GO:0005251 9.43 KCNA5 KCNH2
5 ion channel binding GO:0044325 9.43 AKAP9 RYR2 SCN5A
6 inward rectifier potassium channel activity GO:0005242 9.4 KCNH2 KCNJ8
7 protein kinase A regulatory subunit binding GO:0034237 9.37 AKAP9 RYR2
8 scaffold protein binding GO:0097110 9.33 KCNA5 KCNH2 SCN5A
9 voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization GO:1902282 9.32 KCNH2 KCNJ8
10 ion channel activity GO:0005216 9.26 KCNA5 KCNH2 RYR2 SCN5A
11 voltage-gated ion channel activity GO:0005244 8.92 KCNA5 KCNH2 KCNJ8 SCN5A

Sources for Brugada Syndrome 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
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