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	retinal vein occlusion

Disease ID	1056
Disease	retinal vein occlusion
Definition	Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES.
Synonym	occlusion retinal vein occlusion, of retinal vein occlusion, retinal vein occlusions, retinal vein retinal vein occlusion [disease/finding] retinal vein occlusions retinal vein thrombosis thrombosis of retinal vein vein occlusion, retinal vein occlusions, retinal
DOID	DOID:1727
UMLS	C0035328
MeSH	D012170
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:63) C0271051 \| macular edema \| 176 C0271051 \| macular oedema \| 32 C0035302 \| retinal artery occlusion \| 9 C0024440 \| cystoid macular edema \| 9 C0456909 \| vision loss \| 5 C0398623 \| thrombophilia \| 4 C0035305 \| retinal detachment \| 4 C0022116 \| ischemia \| 3 C0006123 \| branch retinal artery occlusion \| 2 C0520679 \| obstructive sleep apnea \| 2 C0020538 \| hypertension \| 2 C0442874 \| neuropathy \| 2 C0036416 \| scleritis \| 2 C0017601 \| glaucoma \| 2 C0398623 \| hypercoagulable state \| 2 C0037315 \| sleep apnea \| 2 C0155357 \| posterior scleritis \| 2 C0751711 \| anterior ischemic optic neuropathy \| 2 C0017609 \| neovascular glaucoma \| 2 C0029132 \| optic neuropathy \| 2 C0152136 \| normal tension glaucoma \| 1 C0024419 \| waldenstrom's macroglobulinemia \| 1 C0041322 \| ocular tuberculosis \| 1 C0042384 \| vasculitis \| 1 C0155626 \| acute myocardial infarction \| 1 C0027726 \| nephrotic syndrome \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0007282 \| carotid stenosis \| 1 C0024419 \| macroglobulinemia \| 1 C0027051 \| myocardial infarct \| 1 C0030343 \| panuveitis \| 1 C0003857 \| arteriovenous malformation \| 1 C0085278 \| antiphospholipid syndrome \| 1 C0027051 \| myocardial infarction \| 1 C0009324 \| ulcerative colitis \| 1 C0007102 \| colon cancer \| 1 C0037315 \| sleep-disordered breathing \| 1 C0007361 \| cat scratch disease \| 1 C0042384 \| angiitis \| 1 C0520679 \| obstructive sleep apnea syndrome \| 1 C0409974 \| lupus erythematosus \| 1 C0009319 \| colitis \| 1 C0152026 \| retinal vasculitis \| 1 C0007134 \| renal cell carcinoma \| 1 C0006840 \| candidiasis \| 1 C0023418 \| leukemia \| 1 C0028840 \| ocular hypertension \| 1 C0011884 \| diabetic retinopathy \| 1 C0009447 \| common variable immunodeficiency \| 1 C0278678 \| metastatic renal cell carcinoma \| 1 C0042373 \| vascular disease \| 1 C0041296 \| tuberculosis \| 1 C0036202 \| sarcoidosis \| 1 C0022116 \| ischaemia \| 1 C0036454 \| visual field defects \| 1 C0456909 \| blindness \| 1 C0010674 \| cystic fibrosis \| 1 C0007688 \| central retinal artery occlusion \| 1 C0023470 \| myeloid leukemia \| 1 C0037315 \| sleep apnea syndrome \| 1 C0035309 \| retinopathy \| 1 C0023473 \| chronic myeloid leukemia \| 1 C0036454 \| visual field defect \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 2153 \| F5 \| CTD_human 7422 \| VEGFA \| CTD_human 3673 \| ITGA2 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 2147 \| F2 \| CIPHER 2153 \| F5 \| CIPHER;CTD_human 4524 \| MTHFR \| CIPHER 7422 \| VEGFA \| CTD_human 3673 \| ITGA2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:51) 375318 \| AQP12A \| 2.728 \| DISEASES 361 \| AQP4 \| 1.124 \| DISEASES 79969 \| ATAT1 \| 1.082 \| DISEASES 799 \| CALCR \| 1.665 \| DISEASES 388372 \| CCL4L1 \| 1.135 \| DISEASES 959 \| CD40LG \| 1.621 \| DISEASES 1025 \| CDK9 \| 1.217 \| DISEASES 6387 \| CXCL12 \| 1.001 \| DISEASES 1906 \| EDN1 \| 1.693 \| DISEASES 26298 \| EHF \| 2.148 \| DISEASES 23741 \| EID1 \| 1.636 \| DISEASES 2050 \| EPHB4 \| 1.045 \| DISEASES 2152 \| F3 \| 1.248 \| DISEASES 2155 \| F7 \| 1.19 \| DISEASES 2189 \| FANCG \| 3.571 \| DISEASES 2199 \| FBLN2 \| 1.735 \| DISEASES 2331 \| FMOD \| 1.226 \| DISEASES 10755 \| GIPC1 \| 1.544 \| DISEASES 57000 \| GSN-AS1 \| 1.829 \| DISEASES 60495 \| HPSE2 \| 1.081 \| DISEASES 3386 \| ICAM4 \| 2.185 \| DISEASES 3712 \| IVD \| 1.51 \| DISEASES 3766 \| KCNJ10 \| 2.821 \| DISEASES 3778 \| KCNMA1 \| 2.49 \| DISEASES 55554 \| KLK15 \| 1.637 \| DISEASES 4052 \| LTBP1 \| 1.583 \| DISEASES 4237 \| MFAP2 \| 1.963 \| DISEASES 4524 \| MTHFR \| 4.437 \| DISEASES 56953 \| NT5M \| 1.042 \| DISEASES 100506658 \| OCLN \| 1.877 \| DISEASES 26254 \| OPTC \| 3.525 \| DISEASES 23569 \| PADI4 \| 2.928 \| DISEASES 56034 \| PDGFC \| 1.108 \| DISEASES 5824 \| PEX19 \| 1.346 \| DISEASES 5228 \| PGF \| 3.608 \| DISEASES 5251 \| PHEX \| 1.835 \| DISEASES 139728 \| PNCK \| 1.153 \| DISEASES 4860 \| PNP \| 1.548 \| DISEASES 56342 \| PPAN \| 1.397 \| DISEASES 83695 \| RHNO1 \| 1.062 \| DISEASES 6015 \| RING1 \| 1.41 \| DISEASES 6175 \| RPLP0 \| 1.526 \| DISEASES 462 \| SERPINC1 \| 3.954 \| DISEASES 6892 \| TAPBP \| 1.084 \| DISEASES 6905 \| TBCE \| 1.136 \| DISEASES 9875 \| URB1 \| 3.438 \| DISEASES 7422 \| VEGFA \| 5.88 \| DISEASES 5212 \| VIT \| 1.294 \| DISEASES 79001 \| VKORC1 \| 2.613 \| DISEASES 91833 \| WDR20 \| 2.05 \| DISEASES 23038 \| WDTC1 \| 1.22 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1056
Disease	retinal vein occlusion
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0000969 \| Dropsy \| 210 HP:0040049 \| Macular edema \| 187 HP:0000572 \| Visual loss \| 11 HP:0011505 \| Cystoid macular edema \| 10 HP:0100724 \| Hypercoagulability \| 4 HP:0000541 \| Detached retina \| 4 HP:0001297 \| Cerebral vascular events \| 3 HP:0000501 \| Glaucoma \| 2 HP:0100532 \| Scleritis \| 2 HP:0002633 \| Vasculitis \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0010535 \| Sleep apnea \| 2 HP:0000488 \| Noninflammatory retina disease \| 2 HP:0001138 \| Damaged optic nerve \| 2 HP:0000505 \| Poor vision \| 2 HP:0000573 \| Retinal hemorrhage \| 2 HP:0007868 \| ARMD \| 2 HP:0000822 \| Hypertension \| 2 HP:0002104 \| Absence of spontaneous respiration \| 2 HP:0007902 \| Vitreous hemorrhage \| 2 HP:0007663 \| Central visual loss \| 2 HP:0100546 \| Narrowing of carotid artery \| 1 HP:0002583 \| Colitis \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0002140 \| Ischemic stroke \| 1 HP:0000529 \| Slowly progressive visual loss \| 1 HP:0001117 \| Sudden loss of visual acuity \| 1 HP:0100026 \| Arteriovenous malformation \| 1 HP:0012721 \| Venous malformations \| 1 HP:0003003 \| Colon cancer \| 1 HP:0000100 \| Nephrosis \| 1 HP:0100014 \| Macular pucker \| 1 HP:0002625 \| Blood clot in a deep vein \| 1 HP:0004935 \| Pulmonary atresia \| 1 HP:0001909 \| Leukemia \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0003077 \| Hyperlipidemia \| 1 HP:0000618 \| Blindness \| 1 HP:0005506 \| Chronic myeloid leukemia \| 1 HP:0100279 \| Ulcerative colitis \| 1 HP:0012121 \| Panuveitis \| 1 HP:0001658 \| Myocardial infarction \| 1 HP:0005584 \| Renal cell carcinoma \| 1 HP:0012324 \| Myeloid leukemia \| 1

Disease ID	1056
Disease	retinal vein occlusion
Manually Symptom	UMLS \| Name(Total Manually Symptoms:17) C1963229 \| retinal detachment C1861171 \| apc resistance C1861171 \| activated protein c resistance C1532529 \| frosted branch angiitis C0598608 \| hyperhomocysteinemia C0595921 \| intraocular pressure C0398623 \| thrombophilia C0272375 \| antithrombin iii deficiencies C0271051 \| macular oedema C0271051 \| macular edema C0151942 \| arterial thrombosis C0040053 \| thrombosis C0024440 \| cystoid macular edema C0017920 \| glucose-6-phosphate dehydrogenase deficiency C0015526 \| factor xii deficiency C0007273 \| carotid artery disease C0002940 \| aneurysms
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0271051 \| macular edema \| 187 C0271051 \| macular oedema \| 31 C0024440 \| cystoid macular edema \| 10 C0035305 \| retinal detachment \| 4 C0398623 \| thrombophilia \| 4 C1532529 \| frosted branch angiitis \| 1

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

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

All Snps(Total Genotypes:5)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs3730043	23289804	1636	ACE	umls:C0035328	BeFree	Our results suggest that there may be an association between increased risk for RVO and ACE I/D, MTHFR C677T, PAI-1 4G/5G and factor V Leiden polymorphisms, whereas the Val34Leu variant may exert a protective effect.	0.000542884	2014	ACE	17	63491216	C	T
rs386626619	18054634	3717	JAK2	umls:C0035328	BeFree	Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which is strongly associated with myeloproliferative disorders) were assessed in RVO patients showing EECs.	0.000271442	2007	NA	NA	NA	NA	NA
rs397507444	24440586	4524	MTHFR	umls:C0035328	BeFree	Association of methylenetetrahydrofolate reductase (A1298C and C677T) polymorphisms with retinal vein occlusion in Tunisian patients.	0.033214393	2013	MTHFR	1	11794407	T	G
rs77375493	18054634	3717	JAK2	umls:C0035328	BeFree	Conventional diagnostic criteria for myeloproliferative disorders and the JAK2 V617F mutation (which is strongly associated with myeloproliferative disorders) were assessed in RVO patients showing EECs.	0.000271442	2007	JAK2;INSL6	9	5073770	G	A,T
rs9923231	22394334	79001	VKORC1	umls:C0035328	BeFree	Predictive value of the vitamin K epoxide reductase complex subunit 1 G-1639A and C1173T single nucleotide polymorphisms in retinal vein occlusion.	0.000542884	2012	VKORC1	16	31096368	C	A,G,T

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	1056
Disease	retinal vein occlusion
Case	(Waiting for update.)

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