PedAM

Pediatric Disease Annotations & Medicines


	retinal vasculitis

Disease ID	1075
Disease	retinal vasculitis
Definition	Inflammation of the retinal vasculature with various causes including infectious disease; LUPUS ERYTHEMATOSUS, SYSTEMIC; MULTIPLE SCLEROSIS; BEHCET SYNDROME; and CHORIORETINITIS.
Synonym	retinal vasculitis (disorder) retinal vasculitis [disease/finding] retinal vasculitis nos retinal vasculitis nos (disorder) vasculitis retinal vasculitis, retinal
DOID	DOID:11563
UMLS	C0152026
MeSH	D031300
SNOMED-CT	SNOMEDCT_US_2016_09_01:77628002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:40) C0042164 \| uveitis \| 10 C0008526 \| choroiditis \| 5 C0042167 \| posterior uveitis \| 3 C0456909 \| blindness \| 2 C0015397 \| ocular disease \| 2 C0041296 \| tuberculosis \| 2 C0035302 \| retinal artery occlusion \| 2 C0030343 \| panuveitis \| 2 C0035328 \| retinal vein occlusion \| 1 C0085278 \| antiphospholipid antibody syndrome \| 1 C0026654 \| moyamoya syndrome \| 1 C0085652 \| pyoderma gangrenosum \| 1 C0701807 \| acute anterior uveitis \| 1 C0265965 \| dyskeratosis congenita \| 1 C0008049 \| chickenpox \| 1 C0036202 \| sarcoidosis \| 1 C0042165 \| anterior uveitis \| 1 C0011633 \| dermatomyositis \| 1 C0035309 \| retinopathy \| 1 C0271051 \| macular edema \| 1 C0456909 \| vision loss \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0006123 \| branch retinal artery occlusion \| 1 C0409974 \| lupus erythematosus \| 1 C0026654 \| moyamoya \| 1 C0034212 \| pyoderma \| 1 C0011303 \| demyelinating disease \| 1 C0007688 \| central retinal artery occlusion \| 1 C0025290 \| aseptic meningitis \| 1 C0008513 \| retinochoroiditis \| 1 C0021400 \| influenza \| 1 C0162293 \| papillitis \| 1 C0036421 \| systemic sclerosis \| 1 C0042164 \| intraocular inflammation \| 1 C0035333 \| retinitis \| 1 C0029124 \| optic atrophy \| 1 C0021053 \| immune disease \| 1 C0154841 \| central retinal vein occlusion \| 1 C0004771 \| bartonella infection \| 1 C0029134 \| optic neuritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:48) 6376 \| CX3CL1 \| DISEASES 350 \| APOH \| DISEASES 1414 \| CRYBB1 \| DISEASES 2137 \| EXTL3 \| DISEASES 8797 \| TNFRSF10A \| DISEASES 973 \| CD79A \| DISEASES 5949 \| RBP3 \| DISEASES 6347 \| CCL2 \| DISEASES 55907 \| CMAS \| DISEASES 5657 \| PRTN3 \| DISEASES 7276 \| TTR \| DISEASES 7128 \| TNFAIP3 \| DISEASES 5199 \| CFP \| DISEASES 59272 \| ACE2 \| DISEASES 47 \| ACLY \| DISEASES 80326 \| WNT10A \| DISEASES 3557 \| IL1RN \| DISEASES 7188 \| TRAF5 \| DISEASES 726 \| CAPN5 \| DISEASES 1636 \| ACE \| DISEASES 1409 \| CRYAA \| DISEASES 115825 \| WDFY2 \| DISEASES 5346 \| PLIN1 \| DISEASES 56246 \| MRAP \| DISEASES 9156 \| EXO1 \| DISEASES 3824 \| KLRD1 \| DISEASES 3605 \| IL17A \| DISEASES 3683 \| ITGAL \| DISEASES 1524 \| CX3CR1 \| DISEASES 26191 \| PTPN22 \| DISEASES 959 \| CD40LG \| DISEASES 7422 \| VEGFA \| DISEASES 7133 \| TNFRSF1B \| DISEASES 3105 \| HLA-A \| DISEASES 3559 \| IL2RA \| DISEASES 90865 \| IL33 \| DISEASES 9560 \| CCL4L2 \| DISEASES 3778 \| KCNMA1 \| DISEASES 6295 \| SAG \| DISEASES 501 \| ALDH7A1 \| DISEASES 3267 \| AGFG1 \| DISEASES 11277 \| TREX1 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 64167 \| ERAP2 \| DISEASES 388372 \| CCL4L1 \| DISEASES 721 \| C4B \| DISEASES 79104 \| MEG8 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1075
Disease	retinal vasculitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0000554 \| Uveitis \| 8 HP:0012123 \| Posterior uveitis \| 8 HP:0000572 \| Visual loss \| 3 HP:0012121 \| Panuveitis \| 2 HP:0000618 \| Blindness \| 2 HP:0000573 \| Retinal hemorrhage \| 2 HP:0011531 \| Hyalitis \| 1 HP:0100533 \| Ocular inflammation \| 1 HP:0002960 \| Autoimmune condition \| 1 HP:0003613 \| Antiphospholipid antibodies \| 1 HP:0100653 \| Optic neuritis \| 1 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0012636 \| Retinal vein occlusion \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0000999 \| Pyoderma \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0040049 \| Macular edema \| 1

Disease ID	1075
Disease	retinal vasculitis
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0042167 \| posterior uveitis \| 3 C0030343 \| panuveitis \| 2 C0456909 \| blindness \| 2

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

All Snps(Total Genotypes:1)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs12569232	24020968	7188	TRAF5	umls:C0152026	BeFree	Further stratified analysis according to the clinical and laboratory observations suggested that rs12569232/TRAF5 may play a role in the development of retinal vasculitis.	0.000271442	2013	NA	1	211379722	G	C

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
5	87847586	rs17421627	T	G	rs17421627	21060863	7.00E-16	Retinal venular caliber	3	[2.27-3.73] um increase	15,358 Caucasian individuals	Caucasian(15358)	ALL(15358)	EUR(15358)	ALL(15358)	Retinal vascular caliber	HPOID:0000630	Abnormality of retinal arteries	DOID:2462	DOID:1287	retinal vascular disease	cardiovascular system disease	D031300	Retinal Vasculitis	EFOID:0004731	eye measurement	Retinal disease	Cardiovascular disease	rs17421627-G
6	142548099	rs225717	C	T	rs225717	21060863	1.00E-16	Retinal venular caliber	1.9	[1.45-2.35] uM decrease	15,358 Caucasian individuals	Caucasian(15358)	ALL(15358)	EUR(15358)	ALL(15358)	Retinal vascular caliber	HPOID:0000630	Abnormality of retinal arteries	DOID:2462	DOID:1287	retinal vascular disease	cardiovascular system disease	D031300	Retinal Vasculitis	EFOID:0004731	eye measurement	Retinal disease	Cardiovascular disease	rs225717-C
8	11104111	rs7824557	G	A	rs7824557	21060863	4.00E-07	Retinal venular caliber	1	[0.61-1.39] um increase	15,358 Caucasian individuals	Caucasian(15358)	ALL(15358)	EUR(15358)	ALL(15358)	Retinal vascular caliber	HPOID:0000630	Abnormality of retinal arteries	DOID:2462	DOID:1287	retinal vascular disease	cardiovascular system disease	D031300	Retinal Vasculitis	EFOID:0004731	eye measurement	Retinal disease	Cardiovascular disease	rs7824557-G
12	111910219	rs10774625	A	G	rs10774625	21060863	2.00E-13	Retinal venular caliber	1.5	[1.11-1.89] um increase	15,358 Caucasian individuals	Caucasian(15358)	ALL(15358)	EUR(15358)	ALL(15358)	Retinal vascular caliber	HPOID:0000630	Abnormality of retinal arteries	DOID:2462	DOID:1287	retinal vascular disease	cardiovascular system disease	D031300	Retinal Vasculitis	EFOID:0004731	eye measurement	Retinal disease	Cardiovascular disease	rs10774625-A
19	49228272	rs2287921	T	C	rs2287921	21060863	2.00E-25	Retinal venular caliber	2.1	[1.71-2.49] uM decrease	15,358 Caucasian individuals	Caucasian(15358)	ALL(15358)	EUR(15358)	ALL(15358)	Retinal vascular caliber	HPOID:0000630	Abnormality of retinal arteries	DOID:2462	DOID:1287	retinal vascular disease	cardiovascular system disease	D031300	Retinal Vasculitis	EFOID:0004731	eye measurement	Retinal disease	Cardiovascular disease	rs2287921-T

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

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

Chemical(Total Drugs:3)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0152026	carmustine	D002330	154-93-8	retinal vasculitis	MESH:D031300	marker/mechanism	6747681
C0152026	rifabutin	D017828	72559-06-9	retinal vasculitis	MESH:D031300	marker/mechanism	16321897
C0152026	ticlopidine	D013988	55142-85-3	retinal vasculitis	MESH:D031300	marker/mechanism	10844073

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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