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	arteritis, takayasu

Disease ID	654
Disease	arteritis, takayasu
Definition	A chronic inflammatory process that affects the AORTA and its primary branches, such as the brachiocephalic artery (BRACHIOCEPHALIC TRUNK) and CAROTID ARTERIES. It results in progressive arterial stenosis, occlusion, and aneurysm formation. The pulse in the arm is hard to detect. Patients with aortitis syndrome often exhibit retinopathy.
Synonym	(aortic arch arteritis) or (takayasu's disease[& pulseless]) (aortic arch arteritis) or (takayasu's disease[& pulseless]) (disorder) acquired aortoarteritis aortic arch arteritis arteritides, young female arteritis takayasu arteritis takayasu's arteritis takayasus's arteritis, takayasu's arteritis, takayasus arteritis, young female atypical coarctation brachiocephalic ischemia disease, takayasu female arteritides, young female arteritis, young idiopathic medial aortopathy and arteriopathy martorell syndrome middle aortic syndrome nonspecific aortoarteritis nonspecific arteritis occlusive thromboarteriopathy primary arteritis pulseless dis pulseless disease raeder-harbitz syndrome reverse coarctation sclerosing aortitis and arteritis takayasu arteriopathy takayasu arteritis takayasu arteritis [disease/finding] takayasu disease takayasu syndrome takayasu's arteriopathy takayasu's arteritis takayasu's disease takayasu's disease (disorder) takayasu's disease [ambiguous] takayasus arteritis young female arteritides young female arteritis
Orphanet	ORPHANET:3287 ORPHANET:1456
OMIM	OMIM:207600
DOID	DOID:2508
UMLS	C0039263
MeSH	D013625
SNOMED-CT	SNOMEDCT_US_2016_09_01:359789008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:89) C0020538 \| hypertension \| 14 C0009324 \| ulcerative colitis \| 6 C0020545 \| renovascular hypertension \| 5 C0010346 \| crohn's disease \| 5 C0020538 \| vascular hypertension \| 5 C0003486 \| aortic aneurysm \| 4 C0041296 \| tuberculosis \| 4 C0009319 \| colitis \| 4 C0042384 \| vasculitis \| 3 C0039263 \| middle aortic syndrome \| 3 C0003504 \| aortic regurgitation \| 3 C0043092 \| wegener granulomatosis \| 3 C0022116 \| ischemia \| 3 C0162872 \| thoracic aortic aneurysm \| 2 C0442874 \| neuropathy \| 2 C0031069 \| familial mediterranean fever \| 2 C0409974 \| lupus erythematosus \| 2 C0035078 \| renal failure \| 2 C0003509 \| aortitis \| 2 C0029132 \| optic neuropathy \| 2 C0003493 \| aortic disease \| 2 C0162871 \| abdominal aortic aneurysm \| 2 C0024141 \| systemic lupus erythematosus \| 2 C0018801 \| heart failure \| 2 C0152113 \| sydenham's chorea \| 1 C0917996 \| cerebral aneurysm \| 1 C0010051 \| coronary aneurysm \| 1 C0003507 \| aortic stenosis \| 1 C0021831 \| bowel disease \| 1 C0242231 \| coronary artery stenosis \| 1 C0034212 \| pyoderma \| 1 C0021390 \| inflammatory bowel disease \| 1 C0027051 \| myocardial infarct \| 1 C0031111 \| periostitis \| 1 C0338585 \| carotid artery dissection \| 1 C0949690 \| spondylarthritis \| 1 C0027059 \| myocarditis \| 1 C0751711 \| anterior ischemic optic neuropathy \| 1 C0039263 \| takayasu arteritis \| 1 C0016053 \| fibromyalgia \| 1 C0016052 \| fibromuscular dysplasia \| 1 C0027051 \| myocardial infarction \| 1 C0007785 \| cerebral ischemia \| 1 C0007786 \| brain ischemia \| 1 C0038013 \| ankylosing spondylitis \| 1 C0007282 \| carotid stenosis \| 1 C0010346 \| crohn disease \| 1 C0026691 \| kawasaki disease \| 1 C0684249 \| lung carcinoma \| 1 C0003499 \| supravalvular aortic stenosis \| 1 C0010068 \| coronary artery disease \| 1 C0026654 \| moyamoya \| 1 C0029456 \| osteoporosis \| 1 C0007282 \| carotid artery stenosis \| 1 C0020538 \| systemic hypertension \| 1 C0026654 \| moyamoya disease \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0039128 \| syphilis \| 1 C0151332 \| active tuberculosis \| 1 C0006267 \| bronchiectasis \| 1 C0042373 \| vascular disease \| 1 C0038013 \| ankylosing spondylarthritis \| 1 C0011570 \| depression \| 1 C0948265 \| metabolic syndrome \| 1 C1327709 \| rectosigmoid cancer \| 1 C0039483 \| horton's disease \| 1 C0038012 \| spondylitis \| 1 C0002871 \| anemia \| 1 C0017665 \| membranous glomerulonephropathy \| 1 C0085113 \| neurofibromatosis \| 1 C0020542 \| pulmonary hypertension \| 1 C0018799 \| heart disease \| 1 C0003467 \| anxiety \| 1 C0007787 \| transient ischaemic attack \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0003504 \| aortic valve regurgitation \| 1 C0003504 \| aortic insufficiency \| 1 C0021053 \| immune disease \| 1 C0032453 \| relapsing polychondritis \| 1 C0003873 \| rheumatoid arthritis \| 1 C0035435 \| rheumatism \| 1 C0038531 \| subclavian steal syndrome \| 1 C0031099 \| periodontitis \| 1 C0003507 \| valvular aortic stenosis \| 1 C0010051 \| coronary artery aneurysm \| 1 C0010051 \| coronary aneurysms \| 1 C0751498 \| sigmoid cancer \| 1 C0009447 \| common variable immunodeficiency \| 1 C0031046 \| pericarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) 3106 \| HLA-B \| ORPHANET 4843 \| NOS2 \| CTD_human 3593 \| IL12B \| ORPHANET 6945 \| MLX \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 3123 \| HLA-DRB1 \| CIPHER 26191 \| PTPN22 \| CIPHER 3592 \| IL12A \| CIPHER 3558 \| IL2 \| CIPHER 3569 \| IL6 \| CIPHER 4843 \| NOS2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:50) 720 \| C4A \| 1.342 \| DISEASES 339965 \| CCDC158 \| 3.085 \| DISEASES 959 \| CD40LG \| 2.309 \| DISEASES 1025 \| CDK9 \| 6.261 \| DISEASES 170482 \| CLEC4C \| 1.122 \| DISEASES 6993 \| DYNLT1 \| 2.143 \| DISEASES 1906 \| EDN1 \| 1.317 \| DISEASES 2152 \| F3 \| 1.342 \| DISEASES 2214 \| FCGR3A \| 1.134 \| DISEASES 3105 \| HLA-A \| 2.841 \| DISEASES 3106 \| HLA-B \| 4.491 \| DISEASES 3113 \| HLA-DPA1 \| 1.597 \| DISEASES 3115 \| HLA-DPB1 \| 2.535 \| DISEASES 3117 \| HLA-DQA1 \| 1.678 \| DISEASES 3119 \| HLA-DQB1 \| 2.151 \| DISEASES 3120 \| HLA-DQB2 \| 2.264 \| DISEASES 3122 \| HLA-DRA \| 1.177 \| DISEASES 3123 \| HLA-DRB1 \| 2.612 \| DISEASES 51182 \| HSPA14 \| 2.289 \| DISEASES 3329 \| HSPD1 \| 2.731 \| DISEASES 3586 \| IL10 \| 1.073 \| DISEASES 3594 \| IL12RB1 \| 1.137 \| DISEASES 3605 \| IL17A \| 1.904 \| DISEASES 84639 \| IL1F10 \| 1.992 \| DISEASES 3831 \| KLC1 \| 1.552 \| DISEASES 79168 \| LILRA6 \| 3.591 \| DISEASES 4049 \| LTA \| 1.105 \| DISEASES 100507436 \| MICA \| 3.753 \| DISEASES 4318 \| MMP9 \| 1.741 \| DISEASES 4720 \| NDUFS2 \| 1.012 \| DISEASES 4795 \| NFKBIL1 \| 1.858 \| DISEASES 56138 \| PCDHA11 \| 3.31 \| DISEASES 5627 \| PROS1 \| 1.677 \| DISEASES 26191 \| PTPN22 \| 1.186 \| DISEASES 22999 \| RIMS1 \| 2.006 \| DISEASES 134701 \| RIPPLY2 \| 3.883 \| DISEASES 6160 \| RPL31 \| 2.656 \| DISEASES 6133 \| RPL9 \| 2.72 \| DISEASES 6189 \| RPS3A \| 1.583 \| DISEASES 6401 \| SELE \| 2.282 \| DISEASES 57556 \| SEMA6A \| 1.743 \| DISEASES 462 \| SERPINC1 \| 1.516 \| DISEASES 23583 \| SMUG1 \| 4.375 \| DISEASES 6818 \| SULT1A3 \| 1.958 \| DISEASES 445329 \| SULT1A4 \| 1.983 \| DISEASES 7056 \| THBD \| 2.212 \| DISEASES 7100 \| TLR5 \| 1.411 \| DISEASES 7124 \| TNF \| 3.37 \| DISEASES 7133 \| TNFRSF1B \| 2.136 \| DISEASES 91833 \| WDR20 \| 2.11 \| DISEASES
Locus	(Waiting for update.)

Disease ID	654
Disease	arteritis, takayasu
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:1) HP:0012089 \| Arteritis
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:65) HP:0002617 \| Aneurysmal dilatation \| 11 HP:0000822 \| Hypertension \| 11 HP:0100279 \| Ulcerative colitis \| 5 HP:0100280 \| Morbus Crohn \| 5 HP:0100817 \| Renovascular hypertension \| 5 HP:0001659 \| Aortic insufficiency \| 5 HP:0001297 \| Cerebral vascular events \| 5 HP:0002633 \| Vasculitis \| 5 HP:0004942 \| Aortic aneurysm \| 4 HP:0002583 \| Colitis \| 3 HP:0002955 \| Granulomatosis \| 3 HP:0001920 \| Renal artery stenosis \| 3 HP:0001635 \| Congestive heart failure \| 2 HP:0012727 \| Thoracic aortic aneurysm \| 2 HP:0002725 \| Systemic lupus erythematosus \| 2 HP:0004415 \| Pulmonary artery stenosis \| 2 HP:0000572 \| Visual loss \| 2 HP:0002138 \| Subarachnoid hemorrhage \| 2 HP:0000083 \| Renal insufficiency \| 2 HP:0002140 \| Ischemic stroke \| 2 HP:0001138 \| Damaged optic nerve \| 2 HP:0004953 \| Abdominal aortic aneurysm \| 2 HP:0100546 \| Narrowing of carotid artery \| 2 HP:0000999 \| Pyoderma \| 1 HP:0012158 \| Carotid artery dissection \| 1 HP:0001701 \| Pericarditis \| 1 HP:0012089 \| Arteritis \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0004944 \| Cerebral artery aneurysm \| 1 HP:0002616 \| Aortic root dilatation \| 1 HP:0002637 \| Brain ischemia \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0000704 \| Pyorrhea \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0012819 \| Myocarditis \| 1 HP:0012474 \| Obstructed carotid artery \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0001279 \| Syncope \| 1 HP:0002315 \| Headaches \| 1 HP:0040264 \| Jaw pain \| 1 HP:0012159 \| Internal carotid artery dissection \| 1 HP:0011944 \| Small vessel vasculitis \| 1 HP:0005200 \| Retroperitoneal fibrosis \| 1 HP:0040165 \| Periostitis \| 1 HP:0002321 \| Vertigo \| 1 HP:0001680 \| Coarctation of aorta \| 1 HP:0005310 \| Large vessel vasculitis \| 1 HP:0003326 \| Muscle pain \| 1 HP:0002326 \| TIA \| 1 HP:0030907 \| Thunderclap headache \| 1 HP:0100859 \| Superior mesenteric artery aneurysm \| 1 HP:0001650 \| Valvular aortic stenosis \| 1 HP:0003146 \| Decreased circulating cholesterol level \| 1 HP:0001903 \| Anemia \| 1 HP:0005145 \| Narrowing of coronary artery \| 1 HP:0030731 \| Carcinoma \| 1 HP:0000716 \| Depression \| 1 HP:0000739 \| Anxiety \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0001677 \| Coronary artery disease \| 1 HP:0011934 \| Mesenteric artery aneurysm \| 1 HP:0004381 \| Supravalvular aortic stenosis \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0002647 \| Aortic dissection \| 1

Disease ID	654
Disease	arteritis, takayasu
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:29) C0009814 \| stenosis \| 11 C0020538 \| hypertension \| 10 C0002940 \| aneurysm \| 8 C0010346 \| crohn's disease \| 4 C0020545 \| renovascular hypertension \| 4 C0009324 \| ulcerative colitis \| 4 C0003504 \| aortic regurgitation \| 3 C0022116 \| ischemia \| 2 C0042384 \| vasculitis \| 2 C0856760 \| bilateral renal artery stenosis \| 2 C0031111 \| periostitis \| 1 C0038531 \| subclavian steal syndrome \| 1 C0242231 \| coronary artery stenosis \| 1 C0751531 \| subclavian steal \| 1 C0003504 \| aortic insufficiency \| 1 C0003504 \| aortic valve regurgitation \| 1 C0038449 \| artery stenosis \| 1 C0019080 \| hemorrhage \| 1 C0948089 \| acute coronary syndrome \| 1 C0007786 \| brain ischemia \| 1 C0010051 \| coronary artery aneurysm \| 1 C1393529 \| vascular complications \| 1 C0085652 \| pyoderma gangrenosum \| 1 C1402315 \| vascular lesions \| 1 C0041296 \| tuberculosis \| 1 C0340643 \| aortic dissection \| 1 C0020538 \| systemic hypertension \| 1 C0038531 \| subclavian stenosis \| 1 C0917996 \| cerebral aneurysms \| 1

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

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

All Snps(Total Genotypes:8)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs104895476	22821420	64127	NOD2	umls:C0039263	BeFree	A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis?	0.000542884	2012	NOD2	16	50711057	C	G,T
rs11666543	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	RPS9	19	54208113	A	G
rs11666543	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	RPS9	19	54208113	A	G
rs2069837	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	IL6;LOC541472	7	22728408	A	G
rs2069837	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	IL6;LOC541472	7	22728408	A	G
rs2836878	25604533	3569	IL6	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.002638474	2015	NA	21	39093608	G	A
rs2836878	25604533	6203	RPS9	umls:C0039263	BeFree	We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)).	0.000271442	2015	NA	21	39093608	G	A
rs56167332	23830517	3593	IL12B	umls:C0039263	BeFree	We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)).	0.121085767	2013	NA	5	159400761	C	A

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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0012089	Arteritis	MP:0010766	abnormal NK cell physiology	any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with othe

Disease ID	654
Disease	arteritis, takayasu
Case	(Waiting for update.)

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