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	sick sinus syndrome

Disease ID	403
Disease	sick sinus syndrome
Definition	A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Synonym	sick sinus node syndrome sick sinus syndrome (disorder) sick sinus syndrome [disease/finding] sick syndrome sinus sinus sick syndrome sss syndrome sick sinus syndrome, sick sinus
DOID	DOID:13884
ICD10	ICD10CM:I49.5
UMLS	C0037052
MeSH	D012804
SNOMED-CT	SNOMEDCT_US_2016_09_01:36083008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:16) C0037052 \| sick sinus syndrome \| 19 C0004245 \| atrioventricular block \| 2 C0007131 \| nsclc \| 1 C0011847 \| diabetes \| 1 C0018801 \| heart failure \| 1 C0023801 \| lipomatosis \| 1 C1142166 \| brugada syndrome \| 1 C0026896 \| myasthenia gravis \| 1 C0002395 \| alzheimer's disease \| 1 C0011849 \| diabetes mellitus \| 1 C0037315 \| sleep apnea \| 1 C0004245 \| av block \| 1 C0520679 \| obstructive sleep apnea \| 1 C0007222 \| cardiovascular disease \| 1 C0042373 \| vascular disease \| 1 C0043119 \| werner's syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 4624 \| MYH6 \| CTD_human;ORPHANET;GHR 5443 \| POMC \| CTD_human 10021 \| HCN4 \| GHR;ORPHANET;UNIPROT 6331 \| SCN5A \| CLINVAR;GHR;ORPHANET;UNIPROT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3760 \| KCNJ3 \| CIPHER 3762 \| KCNJ5 \| CIPHER 4624 \| MYH6 \| CTD_human 5443 \| POMC \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 84890 \| ADO \| 2.583 \| DISEASES 287 \| ANK2 \| 2.332 \| DISEASES 383 \| ARG1 \| 1.326 \| DISEASES 8289 \| ARID1A \| 1.25 \| DISEASES 8913 \| CACNA1G \| 1.958 \| DISEASES 859 \| CAV3 \| 2.459 \| DISEASES 1201 \| CLN3 \| 2.585 \| DISEASES 78987 \| CRELD1 \| 1.479 \| DISEASES 23564 \| DDAH2 \| 2.149 \| DISEASES 147409 \| DSG4 \| 2.194 \| DISEASES 1832 \| DSP \| 1.352 \| DISEASES 4303 \| FOXO4 \| 1.525 \| DISEASES 2626 \| GATA4 \| 1.105 \| DISEASES 2764 \| GMFB \| 2.301 \| DISEASES 3055 \| HCK \| 1.945 \| DISEASES 57657 \| HCN3 \| 3.175 \| DISEASES 3739 \| KCNA4 \| 3.01 \| DISEASES 3766 \| KCNJ10 \| 1.673 \| DISEASES 3776 \| KCNK2 \| 2.019 \| DISEASES 11155 \| LDB3 \| 1.39 \| DISEASES 378938 \| MALAT1 \| 3.205 \| DISEASES 4152 \| MBD1 \| 2.261 \| DISEASES 104564225 \| MHRT \| 2.421 \| DISEASES 4514 \| MT-CO3 \| 2.555 \| DISEASES 4537 \| MT-ND3 \| 2.092 \| DISEASES 4607 \| MYBPC3 \| 1.414 \| DISEASES 4624 \| MYH6 \| 3.757 \| DISEASES 4635 \| MYL4 \| 3.271 \| DISEASES 26151 \| NAT9 \| 1.513 \| DISEASES 1482 \| NKX2-5 \| 2.261 \| DISEASES 103752588 \| PACERR \| 4.679 \| DISEASES 5053 \| PAH \| 1.426 \| DISEASES 8502 \| PKP4 \| 3.013 \| DISEASES 10654 \| PMVK \| 2.759 \| DISEASES 5420 \| PODXL \| 2.554 \| DISEASES 374308 \| PTCHD3 \| 2.081 \| DISEASES 9536 \| PTGES \| 2.115 \| DISEASES 1827 \| RCAN1 \| 1.757 \| DISEASES 10231 \| RCAN2 \| 3.156 \| DISEASES 5999 \| RGS4 \| 1.971 \| DISEASES 9628 \| RGS6 \| 2.971 \| DISEASES 6262 \| RYR2 \| 1.252 \| DISEASES 142891 \| SAMD8 \| 3.899 \| DISEASES 6331 \| SCN5A \| 5.81 \| DISEASES 6474 \| SHOX2 \| 3.413 \| DISEASES 85413 \| SLC22A16 \| 2.953 \| DISEASES 9096 \| TBX18 \| 4.062 \| DISEASES 51337 \| THEM6 \| 2.355 \| DISEASES 51592 \| TRIM33 \| 1.226 \| DISEASES 7273 \| TTN \| 1.051 \| DISEASES 165904 \| XIRP1 \| 2.694 \| DISEASES
Locus	(Waiting for update.)

Disease ID	403
Disease	sick sinus syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:20) HP:0011704 \| Sick sinus syndrome \| 19 HP:0005110 \| Atrial fibrillation \| 8 HP:0001279 \| Syncope \| 3 HP:0001662 \| Bradycardia \| 2 HP:0001678 \| Atrioventricular block \| 2 HP:0004757 \| Paroxysmal atrial fibrillation \| 2 HP:0001297 \| Cerebral vascular events \| 1 HP:0001649 \| Tachycardia \| 1 HP:0010535 \| Sleep apnea \| 1 HP:0003473 \| Fatigable weakness \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0005115 \| arrhythmias, Supraventricular \| 1 HP:0004755 \| Supraventricular tachycardia \| 1 HP:0004308 \| Ventricular arrhythmia \| 1 HP:0004756 \| Ventricular tachycardia \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0011675 \| Arrhythmias \| 1 HP:0012722 \| Heart block \| 1 HP:0002870 \| Obstructive sleep apnea \| 1 HP:0002104 \| Absence of spontaneous respiration \| 1

Disease ID	403
Disease	sick sinus syndrome
Manually Symptom	UMLS \| Name(Total Manually Symptoms:30) C2720186 \| atrial standstill C2712322 \| tachycardia C2697375 \| brugada syndrome C2242664 \| lipomatous hypertrophy of the interatrial septum C2108093 \| paroxysmal supraventricular tachycardia C2041142 \| left bundle branch block C1550639 \| fistula C1414542 \| marfan syndrome C0694539 \| chronic atrial fibrillation C0520679 \| obstructive sleep apnea syndrome C0428908 \| sinus node dysfunction C0345138 \| pericardial defect C0264886 \| conduction defects C0235480 \| paroxysmal atrial fibrillation C0234435 \| cough syncope C0232197 \| fibrillation C0206138 \| crest syndrome C0042420 \| neurocardiogenic syncope C0040156 \| thyrotoxicosis C0040038 \| thromboembolism C0039070 \| syncope C0038454 \| stroke C0036454 \| visual field defects C0033036 \| atrial extrasystole C0027126 \| myotonic dystrophy C0026269 \| mitral stenosis C0018802 \| congestive heart failure C0018801 \| heart failure C0018799 \| heart disease C0010068 \| coronary heart disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0232197 \| fibrillation \| 7 C0039070 \| syncope \| 3 C0235480 \| paroxysmal atrial fibrillation \| 2 C0018801 \| heart failure \| 1 C1142166 \| brugada syndrome \| 1 C0038454 \| stroke \| 1 C0039231 \| tachycardia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1805124	20384651	6331	SCN5A	umls:C0037052	BeFree	Mutation-specific effects of polymorphism H558R in SCN5A-related sick sinus syndrome.	0.24680591	2010	SCN5A	3	38603929	T	C
rs199473556	20395683	6331	SCN5A	umls:C0037052	BeFree	We report a case of a young male with a novel SCN5A mutation (R121W) afflicted by sick sinus syndrome, progressive cardiac conduction disorder, atrial flutter and ventricular tachycardia.	0.24680591	2010	SCN5A	3	38630342	G	A
rs28937319	NA	6331	SCN5A	umls:C0037052	CLINVAR	NA	0.24680591	NA	SCN5A	3	38562485	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:5)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
14	23404706	rs10130976	T	A	rs10130976	21378987	4.40E-07	Sick sinus syndrome	NA	NA	792 Icelandic cases; 37592 Icelandic controls	Icelandic(38384)	ALL(38384)	EUR(38384)	ALL(38384)	Sick sinus syndrome	HPOID:0011704	Sick sinus syndrome	DOID:13884	sick sinus syndrome	NA	NA	NA	NA	Cardiovascular disease	NA	Research Support, N.I.H., Extramural	Validation Studies	T
14	23744932	rs1055061	C	T	rs1055061	21378987	2.20E-05	Sick sinus syndrome	NA	NA	792 Icelandic cases; 37592 Icelandic controls	Icelandic(38384)	ALL(38384)	EUR(38384)	ALL(38384)	Sick sinus syndrome	HPOID:0011704	Sick sinus syndrome	DOID:13884	sick sinus syndrome	NA	NA	NA	NA	Cardiovascular disease	NA	Research Support, N.I.H., Extramural	Validation Studies	G
14	23861811	rs365990	A	G	rs365990	21378987	1.00E-08	Heart rate	NA	NA	792 Icelandic cases; 37592 Icelandic controls	Icelandic(38384)	ALL(38384)	EUR(38384)	ALL(38384)	Sick sinus syndrome	HPOID:0011704	Sick sinus syndrome	DOID:13884	sick sinus syndrome	NA	NA	NA	NA	Cardiovascular disease	NA	Research Support, N.I.H., Extramural	Validation Studies	G
14	23861811	rs365990	A	G	rs365990	21378987	3.80E-05	QT interval	NA	NA	792 Icelandic cases; 37592 Icelandic controls	Icelandic(38384)	ALL(38384)	EUR(38384)	ALL(38384)	Sick sinus syndrome	HPOID:0011704	Sick sinus syndrome	DOID:13884	sick sinus syndrome	NA	NA	NA	NA	Cardiovascular disease	NA	Research Support, N.I.H., Extramural	Validation Studies	G
14	23861811	rs365990	A	G	rs365990	21378987	6.90E-04	PR interval	NA	NA	792 Icelandic cases; 37592 Icelandic controls	Icelandic(38384)	ALL(38384)	EUR(38384)	ALL(38384)	Sick sinus syndrome	HPOID:0011704	Sick sinus syndrome	DOID:13884	sick sinus syndrome	NA	NA	NA	NA	Cardiovascular disease	NA	Research Support, N.I.H., Extramural	Validation Studies	G

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	403
Disease	sick sinus syndrome
Case	(Waiting for update.)

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