Sick Sinus Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

SSS1 MCID: SCK017 MIFTS: 32	Sick Sinus Syndrome 1 (SSS1) Categories: Cardiovascular diseases, Genetic diseases, Muscle diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Sick Sinus Syndrome 1

MalaCards integrated aliases for Sick Sinus Syndrome 1:

Name: Sick Sinus Syndrome 1 ⁵⁶ ⁷³ ¹³

Sick Sinus Syndrome 1, Autosomal Recessive ²⁹ ⁶ ⁷¹

Sinus Node Disease, Familial, Autosomal Recessive ⁵⁶ ⁷³

Sinus Bradycardia Syndrome, Familial ⁵⁶ ⁷³

Sick Sinus Syndrome, Congenital ⁵⁶ ⁷³

Sss1 ⁵⁶ ⁷³

Sinus, Sick, Syndrome, Type 1, Autosomal Recessive ³⁹

Familial Sinus Node Disease Autosomal Recessive ⁷³

Autosomal Recessive Sick Sinus Syndrome 1 ⁷³

Sinus Rhythm, Congenital Absence of ⁵⁶

Familial Sinus Bradycardia Syndrome ⁷³

Congenital Absence of Sinus Rhythm ⁷³

Characteristics:

OMIM:

⁵⁶

Inheritance:
autosomal recessive

Miscellaneous:
onset in utero, infancy, or early childhood

HPO:

³¹

sick sinus syndrome 1:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course congenital onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 608567

OMIM Phenotypic Series ⁵⁶ PS608567

MeSH ⁴³ D012804

MedGen ⁴¹ C1837845

SNOMED-CT via HPO ⁶⁸ 111975006 233917008 258211005 more

UMLS ⁷¹ C1837845

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Summaries for Sick Sinus Syndrome 1

OMIM : ⁵⁶ The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors, in which case it is considered to be a congenital disorder (Benson et al., 2003). (608567)

MalaCards based summary : Sick Sinus Syndrome 1, also known as sick sinus syndrome 1, autosomal recessive, is related to sick sinus syndrome and sick sinus syndrome 2. An important gene associated with Sick Sinus Syndrome 1 is SCN5A (Sodium Voltage-Gated Channel Alpha Subunit 5). Affiliated tissues include heart, colon and prostate, and related phenotypes are atrioventricular block and prolonged qt interval

UniProtKB/Swiss-Prot : ⁷³ Sick sinus syndrome 1: The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS1 onset is in utero, infancy, or early childhood.

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Related Diseases for Sick Sinus Syndrome 1

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 Sick Sinus Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	sick sinus syndrome	31.3	SCN5A LOC110121269
2	sick sinus syndrome 2	11.7
3	sick sinus syndrome 3	11.2
4	thyroid dyshormonogenesis 3	10.2
5	pulmonary hypertension, primary, 3	10.2
6	atrial fibrillation, familial, 10	9.6	SCN5A LOC110121269
7	brugada syndrome 1	9.6	SCN5A LOC110121269
8	brugada syndrome	9.6	SCN5A LOC110121269
9	long qt syndrome 3	9.5	SCN5A LOC110121269
10	long qt syndrome	9.5	SCN5A LOC110121269
11	progressive familial heart block	9.4	SCN5A LOC110121269
12	left ventricular noncompaction	9.2	SCN5A LOC110121269

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

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Symptoms & Phenotypes for Sick Sinus Syndrome 1

Human phenotypes related to Sick Sinus Syndrome 1:

³¹

#	Description	HPO Source Accession
1	atrioventricular block ³¹	HP:0001678
2	prolonged qt interval ³¹	HP:0001657
3	ventricular escape rhythm ³¹	HP:0005155
4	sick sinus syndrome ³¹	HP:0011704
5	sinus bradycardia ³¹	HP:0001688

Symptoms via clinical synopsis from OMIM:

⁵⁶

Cardiovascular Heart:
sinus bradycardia
atrial inexcitability
sinus arrest
irregular heartbeat
absent p waves
more

Clinical features from OMIM:

608567

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Drugs & Therapeutics for Sick Sinus Syndrome 1

Search Clinical Trials , NIH Clinical Center for Sick Sinus Syndrome 1

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Genetic Tests for Sick Sinus Syndrome 1

Genetic tests related to Sick Sinus Syndrome 1:

#	Genetic test	Affiliating Genes
1	Sick Sinus Syndrome 1, Autosomal Recessive ²⁹	SCN5A

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Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

⁴⁰

Heart, Colon, Prostate, Thyroid

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Publications for Sick Sinus Syndrome 1

Articles related to Sick Sinus Syndrome 1:

(show all 37)

#	Title	Authors	PMID	Year
1	Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). ⁵⁶ ⁶	Benson DW...George AL	14523039	2003
2	Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. ⁶	Olson TM...Anderson JL	15671429	2005
3	Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. ⁶	Kyndt F...Le Marec H	11748104	2001
4	Familial atrial standstill and inexcitability in childhood. ⁵⁶	Ward DE...Shinebourne EA	6702657	1984
5	Spectrum of sinus node dysfunction in two siblings. ⁵⁶	Nordenberg A...Nugent EW	1258759	1976
6	Familial sinus node disease. ⁵⁶	Spellberg RD	5093256	1971
7	Electrical reversion of cardiac arrhythmias. ⁵⁶	Lown B	6029120	1967
8	The conserved C-terminus of Sss1p is required to maintain the ER permeability barrier. ⁶¹	Witham CM...Mousley CJ	31848225	2019
9	OsCNGC13 promotes seed-setting rate by facilitating pollen tube growth in stylar tissues. ⁶¹	Xu Y...Wan J	28708858	2017
10	DNA promoter methylation-dependent transcription of the double C2-like domain β (DOC2B) gene regulates tumor growth in human cervical cancer. ⁶¹	Kabekkodu SP...Satyamoorthy K	24570007	2014
11	Prognostic value of myocardium perfusion imaging with a new reconstruction algorithm. ⁶¹	Lima R...Ilan G	24281904	2014
12	Targeted gene suppression by inducing de novo DNA methylation in the gene promoter. ⁶¹	Ma AN...Hu JF	25184003	2014
13	Atrial giant cell myocarditis: a distinctive clinicopathologic entity. ⁶¹	Larsen BT...Tazelaar HD	23183940	2013
14	[Gene expression of the key enzymes controlling starch synthesis and metabolism in rice grain endosperm under effects of high temperature after anthesis]. ⁶¹	Zhong LJ...Cheng FM	22720620	2012
15	Interruption of intrachromosomal looping by CCCTC binding factor decoy proteins abrogates genomic imprinting of human insulin-like growth factor II. ⁶¹	Zhang H...Hoffman AR	21536749	2011
16	Molecular aspect of good eating quality formation in Japonica rice. ⁶¹	Sun MM...Cho YG	21494675	2011
17	Structural studies and the assembly of the heptameric post-translational translocon complex. ⁶¹	Harada Y...Lennarz WJ	20826819	2011
18	Initial and delayed stress phase imaging in a single-injection double-acquisition SPECT. The potential value of early 99mTc-MIBI redistribution in assessment of myocardial perfusion reversibility in patients with coronary artery disease. ⁶¹	Beiki D...Eftekhari M	20162245	2010
19	DNA methylation and aberrant expression of Sprouty1 in human prostate cancer. ⁶¹	Kwabi-Addo B...Ittmann M	19164898	2009
20	[Trends in mortality from homicide in Medellín (Colombia): 1975-2003]. ⁶¹	Rodriguez-Gazquez Mde L	15960958	2005
21	Coordination of N-glycosylation and protein translocation across the endoplasmic reticulum membrane by Sss1 protein. ⁶¹	Scheper W...Romisch K	12860997	2003
22	The beta subunit of the Sec61p endoplasmic reticulum translocon interacts with the exocyst complex in Saccharomyces cerevisiae. ⁶¹	Toikkanen JH...Keranen S	12665530	2003
23	Radiofrequency ablation of atrioventricular nodal reentrant tachycardia: the risk of intraprocedural, late and long-term atrioventricular block. The Veneto Region multicenter experience. ⁶¹	Delise P...D'Este D	12611122	2002
24	Twenty-five years' experience with the arterial switch operation. ⁶¹	Hutter PA...Bennink GB	12324738	2002
25	Folate deficiency in vitro induces uracil misincorporation and DNA hypomethylation and inhibits DNA excision repair in immortalized normal human colon epithelial cells. ⁶¹	Duthie SJ...Brand GM	11142099	2000
26	Chronic alcohol consumption induces genomic but not p53-specific DNA hypomethylation in rat colon. ⁶¹	Choi SW...Mason JB	10539767	1999
27	Expression, purification, and characterization of Sss1p, an essential component of the yeast Sec61p protein translocation complex. ⁶¹	Beswick V...Garrigos M	9693068	1998
28	Use of time-series analysis in infectious disease surveillance. ⁶¹	Allard R	9803583	1998
29	DNA hypomethylation and proliferative activity are increased in the rectal mucosa of patients with long-standing ulcerative colitis. ⁶¹	Gloria L...Soares J	8940998	1996
30	Global DNA hypomethylation occurs in the early stages of intestinal type gastric carcinoma. ⁶¹	Cravo M...Costa Mira F	8949650	1996
31	Analysis of a 32.8 kb segment of yeast chromosome IV reveals 21 open reading frames, including TPS2, PPH3, RAD55, SED1, PDC2, AFR1, SSS1, SLU7 and a tRNA for arginine. ⁶¹	Coster F...Goffeau A	7483840	1995
32	Structure, organization, and chromosomal location of the gene encoding a form of rice soluble starch synthase. ⁶¹	Tanaka K...Baba T	7610165	1995
33	SSS1 encodes a stabilizing component of the Sec61 subcomplex of the yeast protein translocation apparatus. ⁶¹	Esnault Y...Kepes F	7961662	1994
34	Global DNA hypomethylation increases progressively in cervical dysplasia and carcinoma. ⁶¹	Kim YI...Mason JB	8039116	1994
35	The yeast SSS1 gene is essential for secretory protein translocation and encodes a conserved protein of the endoplasmic reticulum. ⁶¹	Esnault Y...Kepes F	8223425	1993
36	[Arrhythmic profiles evaluated by Holter's technique in sick sinus syndrome]. ⁶¹	Lousada N...Rato JA	1910879	1991
37	The Activitrax rate responsive pacemaker system. ⁶¹	den Dulk K...Wellens HJ	3336998	1988

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Genes for Sick Sinus Syndrome 1

Genes related to Sick Sinus Syndrome 1 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN5A	Sodium Voltage-Gated Channel Alpha Subunit 5	Protein Coding	1319.3	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	11748104 14523039 15671429
2	LOC110121269	VISTA Enhancer Hs2177	Biological Region	8.24	GeneCards inferred via : Variants (show sections)

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Variations for Sick Sinus Syndrome 1

ClinVar genetic disease variations for Sick Sinus Syndrome 1:

⁶ (show all 23) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	SCN5A	NM_198056.2(SCN5A):c.4867C>T (p.Arg1623Ter)	SNV	Pathogenic	9374	rs137854613	3:38592996-38592996	3:38551505-38551505
2	SCN5A	NM_198056.2(SCN5A):c.3893C>T (p.Pro1298Leu)	SNV	Pathogenic	9394	rs28937319	3:38603976-38603976	3:38562485-38562485
3	SCN5A	NM_198056.2(SCN5A):c.4222G>A (p.Gly1408Arg)	SNV	Pathogenic	9395	rs137854612	3:38601661-38601661	3:38560170-38560170
4	SCN5A	NM_198056.2(SCN5A):c.665G>A (p.Arg222Gln)	SNV	Pathogenic	39444	rs45546039	3:38655272-38655272	3:38613781-38613781
5	SCN5A	NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys)	SNV	Pathogenic/Likely pathogenic	67633	rs199473097	3:38648201-38648201	3:38606710-38606710
6	SCN5A	NM_198056.2(SCN5A):c.5215C>T (p.Arg1739Trp)	SNV	Conflicting interpretations of pathogenicity	67965	rs199473303	3:38592648-38592648	3:38551157-38551157
7	SCN5A	NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile)	SNV	Conflicting interpretations of pathogenicity	9396	rs45620037	3:38655278-38655278	3:38613787-38613787
8	SCN5A	NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter)	SNV	Conflicting interpretations of pathogenicity	201546	rs757532106	3:38591991-38591991	3:38550500-38550500
9	SCN5A	NM_198056.2(SCN5A):c.5795C>T (p.Ala1932Val)	SNV	Conflicting interpretations of pathogenicity	582721	rs371194826	3:38592068-38592068	3:38550577-38550577
10	SCN5A	NM_198056.2(SCN5A):c.2924G>A (p.Arg975Gln)	SNV	Uncertain significance	201483	rs753149586	3:38622726-38622726	3:38581235-38581235
11	SCN5A	NM_198056.2(SCN5A):c.2399G>A (p.Arg800His)	SNV	Uncertain significance	222807	rs566251672	3:38628928-38628928	3:38587437-38587437
12	SCN5A	NM_198056.2(SCN5A):c.5786G>A (p.Arg1929His)	SNV	Uncertain significance	179372	rs727504822	3:38592077-38592077	3:38550586-38550586
13	SCN5A	NM_198056.2(SCN5A):c.152C>T (p.Ala51Val)	SNV	Uncertain significance	179791	rs727505131	3:38674647-38674647	3:38633156-38633156
14	SCN5A	NM_198056.2(SCN5A):c.1282G>A (p.Glu428Lys)	SNV	Uncertain significance	30048	rs199473111	3:38647498-38647498	3:38606007-38606007
15	SCN5A	NM_198056.2(SCN5A):c.5689C>T (p.Arg1897Trp)	SNV	Uncertain significance	68003	rs45465995	3:38592174-38592174	3:38550683-38550683
16	SCN5A	NM_198056.2(SCN5A):c.5738G>A (p.Arg1913His)	SNV	Uncertain significance	68009	rs199473327	3:38592125-38592125	3:38550634-38550634
17	SCN5A	NM_198056.2(SCN5A):c.5803G>A (p.Gly1935Ser)	SNV	Uncertain significance	68011	rs199473637	3:38592060-38592060	3:38550569-38550569
18	SCN5A	NM_198056.2(SCN5A):c.5904C>G (p.Ile1968Met)	SNV	Uncertain significance	68018	rs199473333	3:38591959-38591959	3:38550468-38550468
19	SCN5A	NM_198056.2(SCN5A):c.880G>A (p.Val294Met)	SNV	Uncertain significance	68054	rs199473086	3:38651279-38651279	3:38609788-38609788
20	SCN5A	NM_198056.2(SCN5A):c.3080G>A (p.Arg1027Gln)	SNV	Uncertain significance	520458	rs763891399	3:38622570-38622570	3:38581079-38581079
21	SCN5A	NM_198056.2(SCN5A):c.3118G>A (p.Gly1040Arg)	SNV	Uncertain significance	67779	rs199473186	3:38622532-38622532	3:38581041-38581041
22	SCN5A	NM_198056.2(SCN5A):c.3556G>A (p.Ala1186Thr)	SNV	Uncertain significance	67802	rs199473595	3:38616898-38616898	3:38575407-38575407
23	SCN5A	NM_198056.2(SCN5A):c.4786T>A (p.Phe1596Ile)	SNV	Uncertain significance	67924	rs199473278	3:38595797-38595797	3:38554306-38554306

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

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SCN5A	p.Thr220Ile	VAR_017670	rs45620037
2	SCN5A	p.Ala735Val	VAR_017674	rs137854611
3	SCN5A	p.Pro1298Leu	VAR_017680	rs28937319
4	SCN5A	p.Gly1408Arg	VAR_017681	rs137854612
5	SCN5A	p.Asp1792Asn	VAR_068475	rs727504495

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Expression for Sick Sinus Syndrome 1

Search GEO for disease gene expression data for Sick Sinus Syndrome 1.

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Pathways for Sick Sinus Syndrome 1

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GO Terms for Sick Sinus Syndrome 1

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Sources for Sick Sinus Syndrome 1

¹ BioSystems

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³ CDC

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⁸ Cochrane Library

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¹⁰ dbSNP

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

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³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Sick Sinus Syndrome 1 (SSS1)

Aliases & Classifications for Sick Sinus Syndrome 1

MalaCards integrated aliases for Sick Sinus Syndrome 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Sick Sinus Syndrome 1

Related Diseases for Sick Sinus Syndrome 1

Diseases in the Sick Sinus Syndrome family:

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

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

Symptoms & Phenotypes for Sick Sinus Syndrome 1

Human phenotypes related to Sick Sinus Syndrome 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Sick Sinus Syndrome 1

Genetic Tests for Sick Sinus Syndrome 1

Genetic tests related to Sick Sinus Syndrome 1:

Anatomical Context for Sick Sinus Syndrome 1

MalaCards organs/tissues related to Sick Sinus Syndrome 1:

Publications for Sick Sinus Syndrome 1

Articles related to Sick Sinus Syndrome 1:

Genes for Sick Sinus Syndrome 1

Genes related to Sick Sinus Syndrome 1 (1 elite genes):

Variations for Sick Sinus Syndrome 1

ClinVar genetic disease variations for Sick Sinus Syndrome 1:

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

Expression for Sick Sinus Syndrome 1

Pathways for Sick Sinus Syndrome 1

GO Terms for Sick Sinus Syndrome 1

Sources for Sick Sinus Syndrome 1