MCID: FML272
MIFTS: 37

Familial Sick Sinus Syndrome

Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Familial Sick Sinus Syndrome

MalaCards integrated aliases for Familial Sick Sinus Syndrome:

Name: Familial Sick Sinus Syndrome 20 58 6 70
Familial Sinus Node Dysfunction 20

Characteristics:

Orphanet epidemiological data:

58
familial sick sinus syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

MESH via Orphanet 45 D012804
ICD10 via Orphanet 33 I49.5
UMLS via Orphanet 71 C0037052
Orphanet 58 ORPHA166282
UMLS 70 C0340491

Summaries for Familial Sick Sinus Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 166282 Definition Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.

MalaCards based summary : Familial Sick Sinus Syndrome, also known as familial sinus node dysfunction, is related to brugada syndrome and sinoatrial node disease. An important gene associated with Familial Sick Sinus Syndrome is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5), and among its related pathways/superpathways are Neuroscience and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Angiotensin II and Angiotensinogen have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and liver/biliary system

Related Diseases for Familial Sick Sinus Syndrome

Diseases in the Sick Sinus Syndrome family:

Sick Sinus Syndrome 2 Sick Sinus Syndrome 1
Sick Sinus Syndrome 3 Familial Sick Sinus Syndrome

Diseases related to Familial Sick Sinus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 brugada syndrome 29.6 SCN5A MYH6 HCN4
2 sinoatrial node disease 29.6 SCN5A MYH6 HCN4
3 sick sinus syndrome 29.3 SCN5A MYH6 MECP2 HCN4 AGT
4 long qt syndrome 1 29.3 SCN5A MYH6 HCN4
5 hypertrophic cardiomyopathy 28.9 SCN5A MYH6 HCN4 AGT
6 dilated cardiomyopathy 28.8 SCN5A MYH6 HCN4 AGT
7 sick sinus syndrome 2 10.2
8 brugada syndrome 1 10.2
9 developmental and epileptic encephalopathy 14 10.0 SCN5A MECP2
10 brugada syndrome 8 10.0
11 strabismus 10.0
12 long qt syndrome 3 10.0
13 mechanical strabismus 10.0
14 familial long qt syndrome 10.0
15 timothy syndrome 10.0 SCN5A MECP2
16 second-degree atrioventricular block 10.0 SCN5A HCN4
17 atrioventricular block 10.0 SCN5A HCN4
18 third-degree atrioventricular block 10.0 SCN5A HCN4
19 long qt syndrome 9 10.0 SCN5A HCN4
20 right bundle branch block 9.9 SCN5A HCN4
21 myasthenic syndrome, congenital, 5 9.9 SCN5A HCN4
22 isolated elevated serum creatine phosphokinase levels 9.9 SCN5A HCN4
23 left ventricular noncompaction 1 9.9 SCN5A MYH6
24 mitochondrial dna depletion syndrome 12b 9.9 SCN5A MYH6
25 cardiac conduction defect 9.8 SCN5A MYH6
26 noonan syndrome with multiple lentigines 9.8 SCN5A MYH6
27 mitral valve disease 9.8 MYH6 AGT
28 wolff-parkinson-white syndrome 9.8 SCN5A MYH6
29 cardiomyopathy, dilated, 1b 9.7 SCN5A MYH6
30 intrinsic cardiomyopathy 9.7 SCN5A MYH6
31 atrial fibrillation 9.7 SCN5A HCN4 AGT
32 aortic valve disease 2 9.7 MYH6 AGT
33 dravet syndrome 9.7 SCN5A MECP2
34 kagami-ogata syndrome 9.6 MYH6 MECP2
35 malignant hyperthermia 9.6 SCN5A MYH6
36 congestive heart failure 9.6 SCN5A MYH6 AGT
37 ebstein anomaly 9.6 SCN5A MYH6 HCN4
38 long qt syndrome 2 9.6 SCN5A MYH6 HCN4
39 long qt syndrome 9.6 SCN5A MYH6 HCN4
40 progressive familial heart block 9.6 SCN5A MYH6 HCN4
41 cardiac arrest 9.6 SCN5A MYH6 HCN4
42 atrial heart septal defect 9.6 SCN5A MYH6 HCN4
43 catecholaminergic polymorphic ventricular tachycardia 9.6 SCN5A MYH6 HCN4
44 familial atrial fibrillation 9.6 SCN5A MYH6 HCN4
45 left ventricular noncompaction 9.5 SCN5A MYH6 HCN4
46 heart conduction disease 9.5 SCN5A MYH6 HCN4
47 arrhythmogenic right ventricular cardiomyopathy 9.5 SCN5A MYH6 HCN4
48 congenital myasthenic syndrome 9.5 SCN5A MYH6 HCN4
49 lipoprotein quantitative trait locus 9.3 SCN5A MYH6 HCN4 AGT
50 heart disease 9.2 SCN5A MYH6 HCN4 AGT

Graphical network of the top 20 diseases related to Familial Sick Sinus Syndrome:



Diseases related to Familial Sick Sinus Syndrome

Symptoms & Phenotypes for Familial Sick Sinus Syndrome

MGI Mouse Phenotypes related to Familial Sick Sinus Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.55 AGT HCN4 MECP2 MYH6 SCN5A
2 liver/biliary system MP:0005370 9.26 AGT MECP2 MYH6 SCN5A
3 muscle MP:0005369 8.92 AGT HCN4 MYH6 SCN5A

Drugs & Therapeutics for Familial Sick Sinus Syndrome

Drugs for Familial Sick Sinus Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Angiotensin II Approved, Investigational 68521-88-0, 11128-99-7, 4474-91-3 172198
2 Angiotensinogen

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of Angiotensinogen Gene Polymorphism in the Pathogenesis of Non-familial Sick Sinus Syndrome Unknown status NCT01310920

Search NIH Clinical Center for Familial Sick Sinus Syndrome

Genetic Tests for Familial Sick Sinus Syndrome

Anatomical Context for Familial Sick Sinus Syndrome

MalaCards organs/tissues related to Familial Sick Sinus Syndrome:

40
Heart

Publications for Familial Sick Sinus Syndrome

Articles related to Familial Sick Sinus Syndrome:

(show all 35)
# Title Authors PMID Year
1
The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel. 6 61
25145518 2014
2
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
3
Dilation of the Aorta Ascendens Forms Part of the Clinical Spectrum of HCN4 Mutations. 6
27173043 2016
4
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. 6
25145517 2014
5
A rare variant in MYH6 is associated with high risk of sick sinus syndrome. 6
21378987 2011
6
cAMP sensitivity of HCN pacemaker channels determines basal heart rate but is not critical for autonomic rate control. 6
20693575 2010
7
Point mutation in the HCN4 cardiac ion channel pore affecting synthesis, trafficking, and functional expression is associated with familial asymptomatic sinus bradycardia. 6
17646576 2007
8
Familial sinus bradycardia associated with a mutation in the cardiac pacemaker channel. 6
16407510 2006
9
Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. 6
15671429 2005
10
Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia. 6
15123648 2004
11
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). 6
14523039 2003
12
Pacemaker channel dysfunction in a patient with sinus node disease. 6
12750403 2003
13
Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. 6
11748104 2001
14
Familial sick sinus syndrome possibly associated with novel SCN5A mutation diagnosed in pregnancy. 61
33665115 2021
15
Cardiac Emerinopathy: A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction. 61
32755394 2020
16
Sick sinus syndrome with HCN4 mutations shows early onset and frequent association with atrial fibrillation and left ventricular noncompaction. 61
28104484 2017
17
Transforming Growth Factor-β1 T869C Gene Polymorphism Is Associated with Acquired Sick Sinus Syndrome via Linking a Higher Serum Protein Level. 61
27380173 2016
18
Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome. 61
25717017 2015
19
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics. 61
24762805 2014
20
Sick sinus syndrome: a family study. 61
24020943 2014
21
Familial sick sinus syndrome. 61
24172807 2013
22
A novel SCN5A mutation demonstrating a variety of clinical phenotypes in familial sick sinus syndrome. 61
23955615 2013
23
Promoter polymorphism G-6A, which modulates angiotensinogen gene expression, is associated with non-familial sick sinus syndrome. 61
22242192 2012
24
Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome. 61
20448214 2010
25
Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. 61
20539757 2010
26
Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome. 61
20384651 2010
27
Genetics of congenital long QT syndrome and Brugada syndrome. 61
19804318 2008
28
Sudden cardiac death and inherited arrhythmia syndromes. 61
16138889 2005
29
Familial sick sinus syndrome complicated by extensive cardiac conduction disturbance. 61
15094010 2004
30
[Familial sick sinus syndrome associated to strabismus and persistent left superior vena cava]. 61
10978240 2000
31
Familial sick sinus syndrome with atrioventricular conduction disturbance. 61
9805265 1998
32
Familial sick sinus syndrome in two siblings. 61
8236519 1993
33
[A family of familial sick sinus syndrome]. 61
4081357 1985
34
Familial sinus node dysfunction with autosomal dominant inheritance. 61
718774 1978
35
[Familial sick sinus syndrome. Observations on three cases studied (author's transl)]. 61
1254118 1976

Variations for Familial Sick Sinus Syndrome

ClinVar genetic disease variations for Familial Sick Sinus Syndrome:

6 (show top 50) (show all 359)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN5A NM_000335.4(SCN5A):c.1613del (p.Gly538fs) Deletion Pathogenic 523568 rs1553704183 GRCh37: 3:38645480-38645480
GRCh38: 3:38603989-38603989
2 HCN4 NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg) SNV Pathogenic 5173 rs104894488 GRCh37: 15:73616557-73616557
GRCh38: 15:73324216-73324216
3 HCN4 NM_005477.3(HCN4):c.1631del (p.Pro544fs) Deletion Pathogenic 5174 rs1057519015 GRCh37: 15:73617745-73617745
GRCh38: 15:73325404-73325404
4 HCN4 NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg) SNV Pathogenic 5176 rs121908411 GRCh37: 15:73622066-73622066
GRCh38: 15:73329725-73329725
5 SCN5A NM_198056.2(SCN5A):c.3893C>T (p.Pro1298Leu) SNV Pathogenic 9394 rs28937319 GRCh37: 3:38603976-38603976
GRCh38: 3:38562485-38562485
6 SCN5A NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter) SNV Pathogenic 9374 rs137854613 GRCh37: 3:38592996-38592996
GRCh38: 3:38551505-38551505
7 SCN5A NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg) SNV Pathogenic 9395 rs137854612 GRCh37: 3:38601661-38601661
GRCh38: 3:38560170-38560170
8 SCN5A NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) SNV Pathogenic 67731 rs199473161 GRCh37: 3:38627529-38627529
GRCh38: 3:38586038-38586038
9 SCN5A NM_000335.4(SCN5A):c.5212C>T (p.Arg1738Trp) SNV Pathogenic 67965 rs199473303 GRCh37: 3:38592648-38592648
GRCh38: 3:38551157-38551157
10 SCN5A NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) SNV Pathogenic 9396 rs45620037 GRCh37: 3:38655278-38655278
GRCh38: 3:38613787-38613787
11 SCN5A NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) SNV Pathogenic 201546 rs757532106 GRCh37: 3:38591991-38591991
GRCh38: 3:38550500-38550500
12 SCN5A NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) SNV Pathogenic 39444 rs45546039 GRCh37: 3:38655272-38655272
GRCh38: 3:38613781-38613781
13 SCN5A NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) SNV Pathogenic 67633 rs199473097 GRCh37: 3:38648201-38648201
GRCh38: 3:38606710-38606710
14 HCN4 NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) SNV Pathogenic 374859 rs794727637 GRCh37: 15:73622060-73622060
GRCh38: 15:73329719-73329719
15 HCN4 NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly) SNV Pathogenic 374861 rs1057519276 GRCh37: 15:73624602-73624602
GRCh38: 15:73332261-73332261
16 HCN4 NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs) Duplication Pathogenic 374858 rs1057519274 GRCh37: 15:73617341-73617342
GRCh38: 15:73325000-73325001
17 HCN4 NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) SNV Pathogenic 374860 rs1057519275 GRCh37: 15:73622063-73622063
GRCh38: 15:73329722-73329722
18 SCN5A NM_001099404.1(SCN5A):c.1252G>T (p.Glu418Ter) SNV Likely pathogenic 222805 rs869025519 GRCh37: 3:38647528-38647528
GRCh38: 3:38606037-38606037
19 MYH6 NM_002471.3(MYH6):c.2161C>T (p.Arg721Trp) SNV risk factor 29799 rs387906656 GRCh37: 14:23866179-23866179
GRCh38: 14:23396970-23396970
20 MECP2 NM_001110792.2(MECP2):c.148_152del (p.Glu50fs) Deletion Likely pathogenic 813009 rs1603310867 GRCh37: X:153297919-153297923
GRCh38: X:154032468-154032472
21 SCN5A NM_000335.5(SCN5A):c.612-189C>T SNV Likely pathogenic 918717 GRCh37: 3:38655514-38655514
GRCh38: 3:38614023-38614023
22 SCN5A NM_198056.2(SCN5A):c.568C>T (p.Arg190Trp) SNV Uncertain significance 657115 rs199473068 GRCh37: 3:38662377-38662377
GRCh38: 3:38620886-38620886
23 SCN5A NM_198056.2(SCN5A):c.*1074C>G SNV Uncertain significance 345083 rs776171341 GRCh37: 3:38590738-38590738
GRCh38: 3:38549247-38549247
24 SCN5A NM_198056.2(SCN5A):c.4267G>A (p.Asp1423Asn) SNV Uncertain significance 222810 rs746291609 GRCh37: 3:38598754-38598754
GRCh38: 3:38557263-38557263
25 HCN4 NM_005477.3(HCN4):c.2314G>A (p.Val772Ile) SNV Uncertain significance 887898 GRCh37: 15:73616120-73616120
GRCh38: 15:73323779-73323779
26 HCN4 NM_005477.3(HCN4):c.2175C>G (p.Val725=) SNV Uncertain significance 887899 GRCh37: 15:73616259-73616259
GRCh38: 15:73323918-73323918
27 HCN4 NM_005477.3(HCN4):c.2143+8G>A SNV Uncertain significance 887900 GRCh37: 15:73616422-73616422
GRCh38: 15:73324081-73324081
28 HCN4 NM_005477.3(HCN4):c.1844T>G (p.Val615Gly) SNV Uncertain significance 887901 GRCh37: 15:73617430-73617430
GRCh38: 15:73325089-73325089
29 HCN4 NM_005477.3(HCN4):c.-518A>G SNV Uncertain significance 887957 GRCh37: 15:73661129-73661129
GRCh38: 15:73368788-73368788
30 HCN4 NM_005477.3(HCN4):c.-529G>A SNV Uncertain significance 887958 GRCh37: 15:73661140-73661140
GRCh38: 15:73368799-73368799
31 HCN4 NM_005477.3(HCN4):c.-547G>C SNV Uncertain significance 887959 GRCh37: 15:73661158-73661158
GRCh38: 15:73368817-73368817
32 SCN5A NM_198056.2(SCN5A):c.*290G>A SNV Uncertain significance 345104 rs886058457 GRCh37: 3:38591522-38591522
GRCh38: 3:38550031-38550031
33 SCN5A NM_198056.2(SCN5A):c.*725C>A SNV Uncertain significance 345094 rs886058451 GRCh37: 3:38591087-38591087
GRCh38: 3:38549596-38549596
34 SCN5A NM_198056.2(SCN5A):c.1491T>G (p.Ser497=) SNV Uncertain significance 345128 rs761505485 GRCh37: 3:38646247-38646247
GRCh38: 3:38604756-38604756
35 SCN5A NM_198056.2(SCN5A):c.*747G>A SNV Uncertain significance 345093 rs763830252 GRCh37: 3:38591065-38591065
GRCh38: 3:38549574-38549574
36 SCN5A NM_198056.2(SCN5A):c.4827G>A (p.Ser1609=) SNV Uncertain significance 345115 rs886058460 GRCh37: 3:38593036-38593036
GRCh38: 3:38551545-38551545
37 SCN5A NM_198056.2(SCN5A):c.4671C>T (p.Ile1557=) SNV Uncertain significance 345116 rs886058461 GRCh37: 3:38595912-38595912
GRCh38: 3:38554421-38554421
38 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) SNV Uncertain significance 345121 rs781529391 GRCh37: 3:38622662-38622662
GRCh38: 3:38581171-38581171
39 SCN5A NM_198056.2(SCN5A):c.1870C>A (p.Leu624Ile) SNV Uncertain significance 345126 rs886058463 GRCh37: 3:38645223-38645223
GRCh38: 3:38603732-38603732
40 SCN5A NM_198056.2(SCN5A):c.*516G>T SNV Uncertain significance 345099 rs886058454 GRCh37: 3:38591296-38591296
GRCh38: 3:38549805-38549805
41 SCN5A NM_198056.2(SCN5A):c.5971C>T (p.Arg1991Trp) SNV Uncertain significance 345112 rs371308670 GRCh37: 3:38591892-38591892
GRCh38: 3:38550401-38550401
42 SCN5A NM_198056.2(SCN5A):c.*382T>C SNV Uncertain significance 345101 rs45459402 GRCh37: 3:38591430-38591430
GRCh38: 3:38549939-38549939
43 SCN5A NM_198056.2(SCN5A):c.1800G>A (p.Val600=) SNV Uncertain significance 345127 rs758101066 GRCh37: 3:38645293-38645293
GRCh38: 3:38603802-38603802
44 SCN5A NM_198056.2(SCN5A):c.*6G>T SNV Uncertain significance 345110 rs776980213 GRCh37: 3:38591806-38591806
GRCh38: 3:38550315-38550315
45 SCN5A NM_198056.2(SCN5A):c.-53+12C>T SNV Uncertain significance 345130 rs886058464 GRCh37: 3:38691010-38691010
GRCh38: 3:38649519-38649519
46 SCN5A NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) SNV Uncertain significance 345123 rs878911306 GRCh37: 3:38639223-38639223
GRCh38: 3:38597732-38597732
47 LOC110121269 , SCN5A NM_198056.2(SCN5A):c.3384C>T (p.Cys1128=) SNV Uncertain significance 345119 rs561922849 GRCh37: 3:38620831-38620831
GRCh38: 3:38579340-38579340
48 MYH6 NM_002471.4(MYH6):c.3508G>A (p.Glu1170Lys) SNV Uncertain significance 164230 rs727503236 GRCh37: 14:23859490-23859490
GRCh38: 14:23390281-23390281
49 HCN4 NM_005477.3(HCN4):c.*767C>T SNV Uncertain significance 884687 GRCh37: 15:73614055-73614055
GRCh38: 15:73321714-73321714
50 HCN4 NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) SNV Uncertain significance 5175 rs104894485 GRCh37: 15:73617719-73617719
GRCh38: 15:73325378-73325378

Expression for Familial Sick Sinus Syndrome

Search GEO for disease gene expression data for Familial Sick Sinus Syndrome.

Pathways for Familial Sick Sinus Syndrome

Pathways related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.67 SCN5A MECP2 AGT
2 11.53 SCN5A MECP2
3
Show member pathways
11.3 SCN5A MYH6 AGT
4 11 SCN5A HCN4
5 10.88 SCN5A MYH6

GO Terms for Familial Sick Sinus Syndrome

Cellular components related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 8.62 SCN5A MYH6

Biological processes related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.52 SCN5A HCN4
2 sodium ion transport GO:0006814 9.51 SCN5A HCN4
3 negative regulation of angiogenesis GO:0016525 9.49 MECP2 AGT
4 muscle contraction GO:0006936 9.48 MYH6 HCN4
5 sodium ion transmembrane transport GO:0035725 9.46 SCN5A HCN4
6 regulation of blood pressure GO:0008217 9.43 MYH6 AGT
7 cerebellum development GO:0021549 9.4 SCN5A MECP2
8 cardiac muscle contraction GO:0060048 9.37 SCN5A MYH6
9 regulation of heart rate by cardiac conduction GO:0086091 9.32 SCN5A HCN4
10 membrane depolarization during cardiac muscle cell action potential GO:0086012 9.26 SCN5A HCN4
11 membrane depolarization during SA node cell action potential GO:0086046 9.16 SCN5A HCN4
12 SA node cell action potential GO:0086015 8.96 SCN5A HCN4
13 regulation of heart rate GO:0002027 8.92 SCN5A MYH6 HCN4 AGT

Molecular functions related to Familial Sick Sinus Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.16 SCN5A HCN4
2 sodium channel activity GO:0005272 8.96 SCN5A HCN4
3 voltage-gated sodium channel activity GO:0005248 8.62 SCN5A HCN4

Sources for Familial Sick Sinus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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