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	temporal arteritis

Disease ID	418
Disease	temporal arteritis
Definition	subacute, granulomatous arteritis involving the external carotid arteries, especially the temporal artery; occurs in elderly persons and may be manifested by constitutional symptoms, particularly severe headache, and sometimes sudden unilateral blindness; shares many of the symptoms of polymyalgia rheumatica.
Synonym	arteritides, temporal arteritis temporal arteritis, temporal ta - temporal arteritis temporal arteritides temporal arteritis (disorder) temporal giant cell arteritis
Orphanet	ORPHANET:397
OMIM	OMIM:187360
DOID	DOID:13375
UMLS	C1956391
SNOMED-CT	SNOMEDCT_US_2016_09_01:400130008
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:11) C0003873 \| rheumatoid arthritis \| 1 C0154723 \| migraine with aura \| 1 C0007117 \| basal cell carcinoma \| 1 C0040028 \| essential thrombocythaemia \| 1 C0040053 \| thrombosis \| 1 C0026764 \| multiple myeloma \| 1 C0040997 \| trigeminal neuralgia \| 1 C0003864 \| arthritis \| 1 C0028841 \| ocular hypotony \| 1 C0032533 \| polymyalgia rheumatica \| 1 C0149931 \| migraine \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 26191 \| PTPN22 \| ORPHANET
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:56) 55024 \| BANK1 \| 1.586 \| DISEASES 959 \| CD40LG \| 3.216 \| DISEASES 965 \| CD58 \| 1.261 \| DISEASES 9308 \| CD83 \| 2.502 \| DISEASES 1025 \| CDK9 \| 4.371 \| DISEASES 4283 \| CXCL9 \| 1.46 \| DISEASES 1906 \| EDN1 \| 1.775 \| DISEASES 26298 \| EHF \| 1.081 \| DISEASES 6624 \| FSCN1 \| 1.196 \| DISEASES 3106 \| HLA-B \| 2.106 \| DISEASES 3117 \| HLA-DQA1 \| 1.508 \| DISEASES 3123 \| HLA-DRB1 \| 4.191 \| DISEASES 3240 \| HP \| 2.679 \| DISEASES 3459 \| IFNGR1 \| 1.082 \| DISEASES 3586 \| IL10 \| 1.202 \| DISEASES 3605 \| IL17A \| 2.773 \| DISEASES 50615 \| IL21R \| 2.201 \| DISEASES 149233 \| IL23R \| 1.524 \| DISEASES 9235 \| IL32 \| 1.544 \| DISEASES 90865 \| IL33 \| 1.013 \| DISEASES 3654 \| IRAK1 \| 1.5 \| DISEASES 3684 \| ITGAM \| 1.092 \| DISEASES 7044 \| LEFTY2 \| 1.514 \| DISEASES 79104 \| MEG8 \| 2.912 \| DISEASES 100507436 \| MICA \| 1.108 \| DISEASES 4318 \| MMP9 \| 1.456 \| DISEASES 22861 \| NLRP1 \| 1.866 \| DISEASES 56138 \| PCDHA11 \| 3.14 \| DISEASES 5422 \| POLA1 \| 1.547 \| DISEASES 26191 \| PTPN22 \| 2.308 \| DISEASES 3921 \| RPSA \| 1.106 \| DISEASES 6283 \| S100A12 \| 1.641 \| DISEASES 6288 \| SAA1 \| 1.472 \| DISEASES 6401 \| SELE \| 1.718 \| DISEASES 57556 \| SEMA6A \| 1.484 \| DISEASES 12 \| SERPINA3 \| 2.228 \| DISEASES 23583 \| SMUG1 \| 4.468 \| DISEASES 26774 \| SNORD80 \| 2.348 \| DISEASES 6625 \| SNRNP70 \| 1.193 \| DISEASES 6775 \| STAT4 \| 1.844 \| DISEASES 6818 \| SULT1A3 \| 1.788 \| DISEASES 445329 \| SULT1A4 \| 1.813 \| DISEASES 6938 \| TCF12 \| 1.286 \| DISEASES 6996 \| TDG \| 1.363 \| DISEASES 7099 \| TLR4 \| 2.312 \| DISEASES 7100 \| TLR5 \| 1.454 \| DISEASES 51284 \| TLR7 \| 1.406 \| DISEASES 54106 \| TLR9 \| 1.188 \| DISEASES 7124 \| TNF \| 2.967 \| DISEASES 7133 \| TNFRSF1B \| 2.539 \| DISEASES 8718 \| TNFRSF25 \| 1.871 \| DISEASES 3604 \| TNFRSF9 \| 1.196 \| DISEASES 10673 \| TNFSF13B \| 1.435 \| DISEASES 27229 \| TUBGCP4 \| 1.658 \| DISEASES 9094 \| UNC119 \| 1.416 \| DISEASES 7417 \| VDAC2 \| 1.681 \| DISEASES
Locus	(Waiting for update.)

Disease ID	418
Disease	temporal arteritis
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:3) HP:0008030 \| Retinal arteritis HP:0003565 \| Elevated sedimentation rate HP:0000618 \| Blindness
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:13) HP:0002315 \| Headaches \| 4 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0002077 \| Migraine with aura \| 1 HP:0100661 \| Trigeminal neuralgia \| 1 HP:0012474 \| Obstructed carotid artery \| 1 HP:0001369 \| Arthritis \| 1 HP:0001880 \| Eosinophilia \| 1 HP:0003565 \| Elevated sedimentation rate \| 1 HP:0004936 \| Blood clot in vein \| 1 HP:0002076 \| Migraine headaches \| 1 HP:0002671 \| Basalioma \| 1 HP:0006775 \| Multiple myeloma \| 1 HP:0030164 \| Jaw claudication \| 1

Disease ID	418
Disease	temporal arteritis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:57) C2700511 \| erythroleukemia C2240374 \| eosinophilia C2168170 \| leg claudication C2096315 \| headache C2073625 \| pleural effusion C2046121 \| aortic dissection C2029884 \| hearing loss C1963736 \| tongue necrosis C1963154 \| renal failure C1962966 \| retinopathy C1879328 \| bilateral blindness C1562901 \| peripheral ulcerative keratitis C1402315 \| vascular lesions C1336970 \| visual manifestations C1304164 \| generalized granuloma annulare C1290884 \| inflammatory disease C1253936 \| synovial effusion C1180561 \| internal elastic lamina C1148477 \| sudden deafness C1000483 \| anemia C0836924 \| thrombocytosis C0752303 \| urological manifestations C0522224 \| palsy C0521516 \| polymyalgia C0517555 \| venous thrombosis C0456909 \| loss of vision C0456909 \| blindness C0344232 \| blurred vision C0339731 \| charles bonnet syndrome C0271240 \| unilateral blindness C0239819 \| hand edema C0234362 \| synkinesis C0231243 \| early complication C0221390 \| marantic endocarditis C0162323 \| polyarthritis C0155339 \| brown syndrome C0039483 \| giant cell arteritis C0037284 \| skin lesions C0037090 \| respiratory symptoms C0036454 \| visual field loss C0036454 \| visual field defects C0036220 \| kaposi's sarcoma C0031117 \| peripheral neuropathy C0030167 \| pachymeningitis C0029118 \| opportunistic infections C0027726 \| nephrotic syndrome C0022658 \| renal disease C0022116 \| ischemia C0021845 \| intestinal perforation C0021308 \| infarction C0020676 \| hypothyroidism C0020635 \| hypopituitarism C0020550 \| hyperthyroidism C0019937 \| horner's syndrome C0017086 \| gangrene C0007688 \| central retinal artery occlusion C0007286 \| carpal tunnel syndrome
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:7) C0018681 \| headache \| 3 C0521516 \| polymyalgia \| 2 C0014457 \| eosinophilia \| 1 C1180561 \| internal elastic lamina \| 1 C1963736 \| tongue necrosis \| 1 C0037284 \| skin lesions \| 1 C0042487 \| venous thrombosis \| 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
rs1883832	20682661	958	CD40	umls:C1956391	GAD	[Our results suggest a potential implication of the CD40 rs1883832 C/T polymorphism in susceptibility to visual ischemic manifestations in individuals with biopsy-proven GCA.]	0.002367032	2010	CD40	20	46118343	T	C
rs2104286	20810507	3559	IL2RA	umls:C1956391	GAD	[IL2RA rs2104286 polymorphism does not appear to be a genetic risk factor for susceptibility to biopsy-proven GCA. Also, this polymorphism does not seem to be implicated in the clinical expression of this vasculitis.]	0.002367032	2010	IL2RA	10	6057082	T	C

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

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

Mapped by lexical matching(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0003565	Elevated erythrocyte sedimentation rate	MP:0008770	decreased survivor rate	a smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls

Mapped by homologous gene(Total Items:3)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000618	Blindness	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0003565	Elevated erythrocyte sedimentation rate	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0008030	Retinal arteritis	MP:0010850	increased effector memory CD8-positive, alpha-beta T cell number	increased number of CD8-positive, alpha beta memory T cells with the phenotype CCR7-negative, CD127-positive, CD45RO-positive, and CD25-negative

Disease ID	418
Disease	temporal arteritis
Case	(Waiting for update.)

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