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encyclopedia of Rare Disease Annotation for Precision Medicine

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	coronary artery aneurysm

Disease ID	781
Disease	coronary artery aneurysm
Definition	Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE.
Synonym	aneurysm arteries coronary aneurysm artery coronary aneurysm coronary artery aneurysm coronary vessel aneurysm of coronary vessels aneurysm of coronary vessels (disorder) aneurysm, coronary aneurysmal lesion of coronary artery aneurysmal lesion of coronary artery (finding) aneurysms, coronary arteriovenous aneurysm of coronary vessels coronary aneurysm coronary aneurysm [disease/finding] coronary aneurysms coronary artery aneurysms
DOID	DOID:3362
ICD10	ICD10CM:I25.41
UMLS	C0010051
MeSH	D003323
SNOMED-CT	SNOMEDCT_US_2016_09_01:50570003
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:45) C0026691 \| kawasaki disease \| 37 C0027051 \| myocardial infarct \| 14 C0027051 \| myocardial infarction \| 14 C0040053 \| thrombosis \| 8 C0155626 \| acute myocardial infarction \| 8 C0040053 \| thrombus \| 5 C0004943 \| behcet's disease \| 3 C0018799 \| heart disease \| 3 C0039263 \| takayasu arteritis \| 2 C0008728 \| churg-strauss syndrome \| 2 C0003486 \| aortic aneurysm \| 2 C0042384 \| vasculitis \| 2 C0026691 \| kawasaki syndrome \| 2 C0003873 \| rheumatoid arthritis \| 2 C0011880 \| diabetic ketoacidosis \| 1 C0024205 \| lymphadenitis \| 1 C0007177 \| cardiac tamponade \| 1 C0409974 \| lupus erythematosus \| 1 C0242231 \| coronary stenosis \| 1 C0010051 \| coronary aneurysm \| 1 C0029434 \| osteogenesis imperfecta \| 1 C0027051 \| myocardial infarction (mi) \| 1 C0022116 \| ischemia \| 1 C0151744 \| myocardial ischemia \| 1 C0022116 \| ischaemia \| 1 C0026269 \| mitral stenosis \| 1 C0242231 \| coronary artery stenosis \| 1 C0003504 \| aortic insufficiency \| 1 C0031039 \| pericardial effusion \| 1 C0206141 \| hypereosinophilic syndrome \| 1 C0010068 \| coronary artery disease \| 1 C0030421 \| paraganglioma \| 1 C0031036 \| polyarteritis nodosa \| 1 C0162871 \| abdominal aortic aneurysm \| 1 C0026691 \| kawasaki's disease \| 1 C0149642 \| cervical lymphadenitis \| 1 C0151744 \| ischaemic heart disease \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0034359 \| pyuria \| 1 C0031039 \| pericardial effusions \| 1 C0043092 \| wegener's granulomatosis \| 1 C0027051 \| myocardial infarctions \| 1 C0014118 \| endocarditis \| 1 C0003486 \| aortic aneurysms \| 1 C0010051 \| coronary aneurysms \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2697 \| GJA1 \| CTD_human 100507436 \| MICA \| CTD_human 80271 \| ITPKC \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:14) 388372 \| CCL4L1 \| 1.46 \| DISEASES 9560 \| CCL4L2 \| 2.272 \| DISEASES 959 \| CD40LG \| 1.019 \| DISEASES 79827 \| CLMP \| 2.924 \| DISEASES 81704 \| DOCK8 \| 2.473 \| DISEASES 2152 \| F3 \| 1.222 \| DISEASES 3106 \| HLA-B \| 1.303 \| DISEASES 3455 \| IFNAR2 \| 2.938 \| DISEASES 102723508 \| KANTR \| 1.961 \| DISEASES 11155 \| LDB3 \| 3.623 \| DISEASES 100507436 \| MICA \| 1.544 \| DISEASES 4318 \| MMP9 \| 1.502 \| DISEASES 80312 \| TET1 \| 3.812 \| DISEASES 7124 \| TNF \| 1.152 \| DISEASES
Locus	(Waiting for update.)

Disease ID	781
Disease	coronary artery aneurysm
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:29) HP:0001658 \| Myocardial infarction \| 12 HP:0004947 \| Arteriovenous fistula \| 5 HP:0011641 \| Coronary artery fistula \| 4 HP:0002633 \| Vasculitis \| 3 HP:0001370 \| Rheumatoid arthritis \| 2 HP:0005145 \| Narrowing of coronary artery \| 2 HP:0100749 \| Thoracic pain \| 2 HP:0002617 \| Aneurysmal dilatation \| 2 HP:0004942 \| Aortic aneurysm \| 2 HP:0011672 \| Cardiac myxoma \| 1 HP:0012531 \| Pain \| 1 HP:0001698 \| Pericardial effusions \| 1 HP:0001953 \| Diabetic ketosis \| 1 HP:0004953 \| Abdominal aortic aneurysm \| 1 HP:0001718 \| Mitral stenosis \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0001645 \| Sudden cardiac death \| 1 HP:0100584 \| Endocarditis \| 1 HP:0002631 \| Ascending aortic aneurysm \| 1 HP:0001649 \| Tachycardia \| 1 HP:0001659 \| Aortic insufficiency \| 1 HP:0001647 \| Bicuspid aortic valve \| 1 HP:0006702 \| Spontaneous coronary artery dissection \| 1 HP:0012085 \| High urine neutrophil count \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0012089 \| Arteritis \| 1 HP:0002668 \| Paragangliomas \| 1 HP:0001643 \| Persistent ductus arteriosus \| 1

Disease ID	781
Disease	coronary artery aneurysm
Manually Symptom	UMLS \| Name(Total Manually Symptoms:4) C1956346 \| coronary artery disease C0162871 \| abdominal aortic aneurysm C0026691 \| kawasaki disease C0010073 \| coronary artery spasm
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0026691 \| kawasaki disease \| 38 C0040053 \| thrombosis \| 5 C0027051 \| myocardial infarction \| 2 C0155626 \| acute myocardial infarction \| 2 C0162871 \| abdominal aortic aneurysm \| 1 C0010068 \| coronary artery disease \| 1

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

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

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1800872	17413867	3586	IL10	umls:C0010051	BeFree	The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease.	0.002909916	2007	IL10	1	206773062	T	G
rs1800872	17413867	213	ALB	umls:C0010051	BeFree	The IL-10 (-627 A/C) promoter polymorphism may be associated with coronary aneurysms and low serum albumin in Korean children with Kawasaki disease.	0.000271442	2007	IL10	1	206773062	T	G

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

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

Disease ID	781
Disease	coronary artery aneurysm
Case	(Waiting for update.)

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