BRGDA1
MCID: BRG005
MIFTS: 41

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:
Mortality/Aging 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 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:

(show all 34)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 31.4 AKAP9 KCNA5 KCNH2 KCNJ8 LOC105369689 SCN5A
2 brugada syndrome 2 11.0
3 brugada syndrome 3 11.0
4 brugada syndrome 4 11.0
5 brugada syndrome 5 11.0
6 brugada syndrome 6 11.0
7 brugada syndrome 8 11.0
8 brugada syndrome 9 11.0
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 familial atrial fibrillation 9.6 KCNA5 KCNH2 LOC105369689 SCN5A
25 arrhythmogenic right ventricular cardiomyopathy 9.6 KCNH2 RYR2 SCN5A
26 heart conduction disease 9.5 KCNA5 KCNH2 RYR2 SCN5A
27 atrial fibrillation 9.4 KCNA5 KCNH2 RYR2 SCN5A
28 sudden infant death syndrome 9.4 KCNH2 KCNJ8 RYR2 SCN5A
29 long qt syndrome 5 9.3 AKAP9 KCNH2 RYR2 SCN5A
30 long qt syndrome 2 9.3 AKAP9 KCNH2 RYR2 SCN5A
31 long qt syndrome 1 9.3 AKAP9 KCNH2 RYR2 SCN5A
32 cardiac arrest 9.3 AKAP9 KCNH2 RYR2 SCN5A
33 heart disease 9.3 KCNH2 RYR2 SCN5A
34 long qt syndrome 9.1 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
# 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
# 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

Anatomical Context for Brugada Syndrome 1

MalaCards organs/tissues related to Brugada Syndrome 1:

42
Heart

Publications for Brugada Syndrome 1

Articles related to Brugada Syndrome 1:

# Title Authors Year
1
Unraveling the Enigma of Bangungut: Is Sudden Unexplained Nocturnal Death Syndrome (SUNDS) in the Philippines a Disease Allelic to the Brugada Syndrome? ( 22844180 )
2011
2
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. ( 11823453 )
2002

Variations for Brugada Syndrome 1

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

76 (show top 50) (show all 86)
# 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

ClinVar genetic disease variations for Brugada Syndrome 1:

6 (show top 50) (show all 102)
# Gene Variation Type Significance SNP ID Assembly Location
1 AKAP9 NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144888041 GRCh37 Chromosome 7, 91622303: 91622303
2 AKAP9 NM_005751.4(AKAP9): c.510G> C (p.Glu170Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs144888041 GRCh38 Chromosome 7, 91992989: 91992989
3 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh37 Chromosome 12, 5155046: 5155046
4 KCNA5 NM_002234.3(KCNA5): c.1733G> A (p.Arg578Lys) single nucleotide variant Benign rs12720445 GRCh38 Chromosome 12, 5045880: 5045880
5 SCN5A NM_198056.2(SCN5A): c.4140_4142delCAA (p.Asn1380del) deletion Likely pathogenic rs794728922 GRCh37 Chromosome 3, 38601741: 38601743
6 SCN5A NM_198056.2(SCN5A): c.4140_4142delCAA (p.Asn1380del) deletion Likely pathogenic rs794728922 GRCh38 Chromosome 3, 38560250: 38560252
7 SCN5A NM_198056.2(SCN5A): c.611+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794728843 GRCh37 Chromosome 3, 38662333: 38662333
8 SCN5A NM_198056.2(SCN5A): c.611+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794728843 GRCh38 Chromosome 3, 38620842: 38620842
9 KCNH2 NM_000238.3(KCNH2): c.2606C> T (p.Pro869Leu) single nucleotide variant Uncertain significance rs763031434 GRCh37 Chromosome 7, 150645618: 150645618
10 KCNH2 NM_000238.3(KCNH2): c.2606C> T (p.Pro869Leu) single nucleotide variant Uncertain significance rs763031434 GRCh38 Chromosome 7, 150948530: 150948530
11 SCN5A NM_000335.4(SCN5A): c.611+3_611+4dupAA duplication Pathogenic rs397514252 GRCh38 Chromosome 3, 38620839: 38620840
12 SCN5A NM_198056.2(SCN5A): c.4190delA (p.Lys1397Argfs) deletion Pathogenic rs397514446 GRCh37 Chromosome 3, 38601693: 38601693
13 SCN5A NM_198056.2(SCN5A): c.4190delA (p.Lys1397Argfs) deletion Pathogenic rs397514446 GRCh38 Chromosome 3, 38560202: 38560202
14 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh37 Chromosome 3, 38608046: 38608046
15 SCN5A NM_198056.2(SCN5A): c.3694C> T (p.Arg1232Trp) single nucleotide variant Uncertain significance rs199473207 GRCh38 Chromosome 3, 38566555: 38566555
16 SCN5A NM_000335.4(SCN5A): c.611+3_611+4dupAA duplication Pathogenic rs397514252 GRCh37 Chromosome 3, 38662330: 38662331
17 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh37 Chromosome 3, 38592513: 38592513
18 SCN5A NM_198056.2(SCN5A): c.5350G> A (p.Glu1784Lys) single nucleotide variant Pathogenic/Likely pathogenic rs137854601 GRCh38 Chromosome 3, 38551022: 38551022
19 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh37 Chromosome 3, 38597155: 38597155
20 SCN5A NM_000335.4(SCN5A): c.4531C> T (p.Arg1511Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137854602 GRCh38 Chromosome 3, 38555664: 38555664
21 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh37 Chromosome 3, 38592093: 38592093
22 SCN5A NM_198056.2(SCN5A): c.5770G> A (p.Ala1924Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs137854603 GRCh38 Chromosome 3, 38550602: 38550602
23 SCN5A NM_198056.2(SCN5A): c.5385_5387dupTGA (p.Tyr1795_Glu1796insAsp) duplication Pathogenic rs397514449 GRCh37 Chromosome 3, 38592476: 38592478
24 SCN5A NM_198056.2(SCN5A): c.5385_5387dupTGA (p.Tyr1795_Glu1796insAsp) duplication Pathogenic rs397514449 GRCh38 Chromosome 3, 38550985: 38550987
25 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh37 Chromosome 3, 38592734: 38592734
26 SCN5A NM_000335.4(SCN5A): c.5126C> T (p.Ser1709Leu) single nucleotide variant Pathogenic/Likely pathogenic rs137854604 GRCh38 Chromosome 3, 38551243: 38551243
27 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh37 Chromosome 3, 38648200: 38648200
28 SCN5A NM_198056.2(SCN5A): c.1100G> A (p.Arg367His) single nucleotide variant Pathogenic rs28937318 GRCh38 Chromosome 3, 38606709: 38606709
29 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh37 Chromosome 3, 38639278: 38639278
30 SCN5A NM_198056.2(SCN5A): c.2204C> T (p.Ala735Val) single nucleotide variant Likely pathogenic rs137854611 GRCh38 Chromosome 3, 38597787: 38597787
31 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh37 Chromosome 3, 38616876: 38616876
32 SCN5A NM_000335.4(SCN5A): c.3575G> A (p.Arg1192Gln) single nucleotide variant risk factor rs41261344 GRCh38 Chromosome 3, 38575385: 38575385
33 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh37 Chromosome 3, 38601661: 38601661
34 SCN5A NM_198056.2(SCN5A): c.4222G> A (p.Gly1408Arg) single nucleotide variant Pathogenic rs137854612 GRCh38 Chromosome 3, 38560170: 38560170
35 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh37 Chromosome 3, 38592480: 38592480
36 SCN5A NM_000335.4(SCN5A): c.5380T> C (p.Tyr1794His) single nucleotide variant Pathogenic rs137854615 GRCh38 Chromosome 3, 38550989: 38550989
37 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh37 Chromosome 3, 38645558: 38645558
38 SCN5A NM_198056.2(SCN5A): c.1535C> T (p.Thr512Ile) single nucleotide variant Uncertain significance rs199473118 GRCh38 Chromosome 3, 38604067: 38604067
39 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh37 Chromosome 3, 38607956: 38607956
40 SCN5A NM_198056.2(SCN5A): c.3784G> A (p.Gly1262Ser) single nucleotide variant Uncertain significance rs137854616 GRCh38 Chromosome 3, 38566465: 38566465
41 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh37 Chromosome 3, 38622493: 38622493
42 SCN5A NM_198056.2(SCN5A): c.3157G> A (p.Glu1053Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs137854617 GRCh38 Chromosome 3, 38581002: 38581002
43 SCN5A NM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter) single nucleotide variant Pathogenic rs137854620 GRCh37 Chromosome 3, 38598759: 38598759
44 SCN5A NM_000335.4(SCN5A): c.4259G> A (p.Trp1420Ter) single nucleotide variant Pathogenic rs137854620 GRCh38 Chromosome 3, 38557268: 38557268
45 SCN5A NM_000335.4(SCN5A): c.694G> A (p.Val232Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45471994 GRCh37 Chromosome 3, 38655243: 38655243
46 SCN5A NM_000335.4(SCN5A): c.694G> A (p.Val232Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs45471994 GRCh38 Chromosome 3, 38613752: 38613752
47 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh37 Chromosome 3, 38593004: 38593004
48 SCN5A NM_198056.2(SCN5A): c.4859C> T (p.Thr1620Met) single nucleotide variant Likely pathogenic rs199473282 GRCh38 Chromosome 3, 38551513: 38551513
49 SCN5A NM_000335.4(SCN5A): c.3919C> T (p.Leu1307Phe) single nucleotide variant Benign rs41313031 GRCh37 Chromosome 3, 38603947: 38603947
50 SCN5A NM_000335.4(SCN5A): c.3919C> T (p.Leu1307Phe) single nucleotide variant Benign rs41313031 GRCh38 Chromosome 3, 38562456: 38562456

Expression for Brugada Syndrome 1

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

Pathways for Brugada Syndrome 1

GO Terms for Brugada Syndrome 1

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

# 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:

(show all 18)
# 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:

(show all 11)
# 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
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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