Exudative Vitreoretinopathy 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

EVR1 MCID: EXD008 MIFTS: 72	Exudative Vitreoretinopathy 1 (EVR1) Categories: Blood diseases, Cardiovascular diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Exudative Vitreoretinopathy 1

MalaCards integrated aliases for Exudative Vitreoretinopathy 1:

Name: Exudative Vitreoretinopathy 1 ⁵⁷ ¹¹ ²⁸ ⁵ ⁴³ ¹⁴ ⁷¹

Retinopathy of Prematurity ⁵⁷ ¹¹ ¹⁹ ⁵⁸ ²⁸ ⁵ ⁴³ ¹⁴ ³⁸ ¹⁶ ⁷¹ ³¹ ³³

Retrolental Fibroplasia ¹¹ ¹⁹ ⁵⁸ ⁷⁵ ³³

Evr1 ⁵⁷ ¹¹ ⁷³

Criswick-Schepens Syndrome ⁵⁷ ⁷³

Rop ¹⁹ ⁵⁸

Exudative Vitreoretinopathy, Familial, Autosomal Dominant ⁵⁷

Autosomal Dominant Familial Exudative Vitreoretinopathy ⁷³

Vitreoretinopathy, Exudative, Type 1 ³⁸

Rop - [retinopathy of Prematurity] ³³

Vitreoretinopathy, Exudative 1 ⁷³

Retinopathy of Prematurity Nos ³³

Rlf- [retrolental Fibroplasia] ³³

Fevr, Autosomal Dominant ⁵⁷

Premature Retinopathy ¹¹

Terry Syndrome ³³

Fevr ⁷³

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

Age Of Onset:

Retinopathy of Prematurity: Infancy,Neonatal ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Miscellaneous:
clinical variability
onset in infancy or early childhood
slowly progressive disorder
some patients may be asymptomatic
absence of premature birth, low birthweight, and exposure to oxygen
genetic heterogeneity, see evr2 , evr3 , and evr4

HPO:

³⁰

exudative vitreoretinopathy 1:
Onset and clinical course slowly progressive

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Cardiovascular diseases Neuronal diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Retinopathy of prematurity

ICD11: ³³

Diseases of the visual system

Disorders of the eyeball - posterior segment

Disorders of the retina

Retinopathy

Retinopathy of prematurity

Orphanet: ⁵⁸

Rare eye diseases

External Ids:

Disease Ontology ¹¹ DOID:0111412 DOID:13025

OMIM® ⁵⁷ 133780

OMIM Phenotypic Series ⁵⁷ PS133780

ICD9CM ³⁴ 362.21

MeSH ⁴³ C536382 D012178

NCIt ⁴⁹ C34982

SNOMED-CT ⁶⁸ 155110004

ICD10 ³¹ H35.1

MESH via Orphanet ⁴⁴ D012178

ICD10 via Orphanet ³² H35.1

UMLS via Orphanet ⁷² C0035344

Orphanet ⁵⁸ ORPHA90050

MedGen ⁴⁰ C0035344 C1851402

EFO ¹⁶ EFO_1001158

ICD11 ³³ 947283385

UMLS ⁷¹ C0035344 C1851402

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Summaries for Exudative Vitreoretinopathy 1

OMIM®: ⁵⁷ Familial exudative vitreoretinopathy (FEVR) is an inherited disorder characterized by the incomplete development of the retinal vasculature. Its clinical appearance varies considerably, even within families, with severely affected patients often registered as blind during infancy, whereas mildly affected patients with few or no visual problems may have such a small area of avascularity in their peripheral retina that it is visible only by fluorescein angiography. It is believed that this peripheral avascularity is the primary anomaly in FEVR and results from defective retinal angiogenesis. The sight-threatening features of the FEVR phenotype are considered secondary to retinal avascularity and develop because of the resulting retinal ischemia; they include the development of hyperpermeable blood vessels, neovascularization, vitreoretinal traction, retinal folds, and retinal detachments (summary by Poulter et al., 2010). In 31 Chinese pedigrees clinically diagnosed with FEVR, Rao et al. (2017) analyzed 6 FEVR-associated genes and identified mutations in 12 of the probands, including 5 (16.1%) in LRP5, 3 (9.7%) in NDP, 2 (6.5%) in FZD4, and 1 (3.2%) in TSPAN12. In addition, a mutation in the KIF11 gene (148760) was identified in a patient who also exhibited microcephaly (MCLMR; 152950). The authors noted that their detection rate did not exceed 50%, suggesting that other FEVR-associated genes remained to be discovered. (133780) (Updated 08-Dec-2022)

MalaCards based summary: Exudative Vitreoretinopathy 1, also known as retinopathy of prematurity, is related to exudative vitreoretinopathy and strabismus, and has symptoms including hyperoxia An important gene associated with Exudative Vitreoretinopathy 1 is FZD4 (Frizzled Class Receptor 4), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. The drugs Zinc cation and Zinc sulfate have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and endothelial, and related phenotypes are premature birth and small for gestational age

UniProtKB/Swiss-Prot: ⁷³ A disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.

GARD: ¹⁹ A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Orphanet: ⁵⁸ A rare retinal vasoproliferative disease affecting preterm infants characterized initially by a delay in physiologic retinal vascular development and compromised physiologic vascularity, and subsequently by aberrant angiogenesis in the form of intravitreal neovascularization.

Disease Ontology: ¹¹ An exudative vitreoretinopathy that has material basis in heterozygous mutation in FZD4 on chromosome 11q14.2.

Wikipedia: ⁷⁵ Retinopathy of prematurity (ROP), also called retrolental fibroplasia (RLF) and Terry syndrome, is a... more...

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Related Diseases for Exudative Vitreoretinopathy 1

Diseases in the Exudative Vitreoretinopathy family:

Exudative Vitreoretinopathy 1	Exudative Vitreoretinopathy 4
Exudative Vitreoretinopathy 3	Exudative Vitreoretinopathy 5
Exudative Vitreoretinopathy 6	Exudative Vitreoretinopathy 7

Diseases related to Exudative Vitreoretinopathy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 491)

#	Related Disease	Score	Top Affiliating Genes
1	exudative vitreoretinopathy	32.5	ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
2	strabismus	32.2	ZNF408 TSPAN12 IGF1 FZD4 CTNNB1 CRYAA
3	patent ductus arteriosus 1	31.8	VEGFA IGF1 EPO
4	pre-eclampsia	31.7	VEGFA PGF KDR IGF1 HIF1A FLT1
5	endophthalmitis	31.6	VEGFA PGF FLT1 CRYAA
6	retinal perforation	31.6	VEGFA PGF CRYAA
7	microvascular complications of diabetes 5	31.5	VEGFA TEK PGF MIR20A KDR IGF1
8	eclampsia	31.5	VEGFA PGF FLT1
9	macular retinal edema	31.4	VEGFA PGF MIR20A KDR FLT1 ANGPT2
10	vitreoretinopathy, neovascular inflammatory	31.3	VEGFA MIR20A CRYAA
11	macular holes	31.3	VEGFA CRYAA ANGPT2
12	cerebral palsy	31.3	IGF1 HIF1A EPO CTNNB1
13	retinal ischemia	31.3	VEGFA PGF KDR HIF1A EPO CRYAA
14	eye disease	31.2	VEGFA TSPAN12 TEK PGF NDP MIR20A
15	hemangioma	31.2	VEGFA TEK KDR HIF1A FLT1 CTNNB1
16	pulmonary hypertension	31.1	VEGFA TEK PGF MIR20A KDR HIF1A
17	macular degeneration, age-related, 1	31.1	VEGFA TEK PGF KDR IGF1 HIF1A
18	neovascular glaucoma	31.0	VEGFA PGF KDR FLT1 EPO CRYAA
19	persistent hyperplastic primary vitreous	31.0	ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
20	coats disease	31.0	ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
21	retinal detachment	31.0	ZNF408 VEGFA TSPAN12 NDP LRP5 IGF1
22	vitreoretinopathy	30.9	ZNF408 VEGFA TSPAN12 NDP LRP5 FZD4
23	leukocoria	30.8	ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
24	capillary hemangioma	30.8	VEGFA TEK KDR HIF1A FLT1
25	microvascular complications of diabetes 1	30.8	VEGFA IGF1 HIF1A FLT1 ANGPT2
26	ischemia	30.7	VEGFA TEK PGF KDR HIF1A FLT1
27	retinal vein occlusion	30.7	VEGFA KDR ANGPT2
28	anemia of prematurity	30.6	VEGFA EPO
29	rubeosis iridis	30.6	VEGFA PGF
30	osteoporosis	30.6	VEGFA NDP LRP5 IGF1 FZD4 EPO
31	hypertension, essential	30.6	VEGFA TEK PPIG PGF LRP5 KDR
32	pulmonary edema	30.6	TEK HIF1A EPO
33	kidney disease	30.6	VEGFA LRP5 IGF1 HIF1A EPO CTNNB1
34	lung cancer susceptibility 3	30.5	VEGFA KDR HIF1A DLX6-AS1 CTNNB1
35	kuhnt-junius degeneration	30.5	VEGFA TEK PGF KDR FLT1 CRYAA
36	fundus dystrophy	30.5	ZNF408 VEGFA TSPAN12 PRSS23 LRP5 IGF1
37	placental insufficiency	30.5	VEGFA TEK PGF KDR HIF1A FLT1
38	osteoporosis-pseudoglioma syndrome	30.5	NDP LRP5 FZD4 CTNNB1
39	norrie disease	30.5	ZNF408 VEGFA TSPAN12 PRSS23 NDP LRP5
40	heart disease	30.4	VEGFA PPIG PGF IGF1 HIF1A FLT1
41	retinitis pigmentosa	30.4	ZNF408 VEGFA TSPAN12 NDP KDR IGF1
42	connective tissue disease	30.3	VEGFA MIR20A KDR IGF1 HIF1A CTNNB1
43	diabetes mellitus	30.3	VEGFA TEK PGF MIR20A LRP5 KDR
44	retinal vascular disease	30.2	ZNF408 VEGFA TSPAN12 TEK PGF NDP
45	polycythemia	30.2	VEGFA HIF1A EPO
46	vasoproliferative tumor of the retina	11.2
47	microcephaly and chorioretinopathy, autosomal recessive, 1	11.2
48	aqueous misdirection	11.2
49	myopia	11.1
50	refractive error	11.0

Graphical network of the top 20 diseases related to Exudative Vitreoretinopathy 1:

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Symptoms & Phenotypes for Exudative Vitreoretinopathy 1

Human phenotypes related to Exudative Vitreoretinopathy 1:

⁵⁸ ³⁰ (show all 21)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	premature birth ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001622
2	small for gestational age ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001518
3	blindness ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000618
4	vitreous hemorrhage ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007902
5	retinal arteriolar tortuosity ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001136
6	abnormal macular morphology ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001103
7	tractional retinal detachment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007917
8	retinal detachment ³⁰	Very rare (1%)		HP:0000541
9	reduced visual acuity ³⁰	Very rare (1%)		HP:0007663
10	esotropia ³⁰	Very rare (1%)		HP:0000565
11	vitreous floaters ³⁰	Very rare (1%)		HP:0100832
12	retinal exudate ³⁰	Very rare (1%)		HP:0001147
13	exudative vitreoretinopathy ³⁰	Very rare (1%)		HP:0030490
14	peripheral retinal avascularization ³⁰	Very rare (1%)		HP:0007685
15	falciform retinal fold ³⁰	Very rare (1%)		HP:0001493
16	retinal hole ³⁰	Very rare (1%)		HP:0011530
17	ectopic fovea ³⁰	Very rare (1%)		HP:0025007
18	abnormal retinal vascular morphology ⁵⁸		Very frequent (99-80%)
19	recurrent fractures ³⁰			HP:0002757
20	subcapsular cataract ³⁰			HP:0000523
21	posterior vitreous detachment ³⁰			HP:0001489

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
blindness
vitreous hemorrhage
retinal neovascularization
peripheral retinal avascularization
decreased visual acuity
more

Skeletal:
low bone density
increased fracture rate

Clinical features from OMIM®:

133780 (Updated 08-Dec-2022)

UMLS symptoms related to Exudative Vitreoretinopathy 1:

hyperoxia

GenomeRNAi Phenotypes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

²⁵ (show all 23)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-100	9.7	HIF1A
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-115	9.7	ANGPT2
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	9.7	ANGPT2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-124	9.7	CRYAA
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-128	9.7	ANGPT2
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-145	9.7	HIF1A
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-148	9.7	CRYAA
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.7	ANGPT2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	9.7	HIF1A
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-174	9.7	HIF1A
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-175	9.7	ANGPT2
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-182	9.7	HIF1A
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-185	9.7	HIF1A
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	9.7	HIF1A
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-200	9.7	CRYAA
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	9.7	CRYAA HIF1A
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.7	CTNNB1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-58	9.7	ANGPT2
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-59	9.7	ANGPT2
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.7	HIF1A
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-77	9.7	HIF1A
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	9.7	ANGPT2
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.7	CRYAA

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy 1:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.14	CTNNB1 DLX6-AS1 FLT1 FZD4 HIF1A IGF1
2	cardiovascular system	MP:0005385	10.13	ANGPT2 CTNNB1 EPO FLT1 FZD4 HIF1A
3	normal	MP:0002873	10.09	CTNNB1 FLT1 FZD4 HIF1A IGF1 KDR
4	muscle	MP:0005369	10.02	CTNNB1 EPO FLT1 FZD4 HIF1A IGF1
5	embryo	MP:0005380	10.02	CTNNB1 EPO FLT1 FZD4 HIF1A KDR
6	vision/eye	MP:0005391	9.77	ANGPT2 CRYAA CTNNB1 FLT1 FZD4 HIF1A
7	respiratory system	MP:0005388	9.76	ANGPT2 CTNNB1 EPO HIF1A IGF1 KDR
8	integument	MP:0010771	9.28	ANGPT2 CTNNB1 FZD4 HIF1A IGF1 KDR

Sources

Drugs & Therapeutics for Exudative Vitreoretinopathy 1

Drugs for Exudative Vitreoretinopathy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 159)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Zinc cation

Approved, Experimental, Investigational

Phase 4

7440-66-6, 23713-49-7

32051

Zinc sulfate

Approved, Investigational

Phase 4

7733-02-0

Ketamine

Approved, Vet_approved

Phase 4

6740-88-1, 1867-66-9

3821

Nitrous oxide

Approved, Vet_approved

Phase 4

10024-97-2

948

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Propofol

Approved, Investigational, Vet_approved

Phase 4

2078-54-8

4943

Cyclopentolate

Approved

Phase 4

512-15-2

2905

Dipivefrin

Approved

Phase 4

52365-63-6

3105

Racephedrine

Approved, Experimental

Phase 4

299-42-3, 90-82-4, 90-81-3

5032 9294 7028

Phenylephrine

Approved

Phase 4

59-42-7

6041

Tropicamide

Approved, Investigational

Phase 4

1508-75-4

5593

Oxymetazoline

Approved, Investigational

Phase 4

1491-59-4

4636

Clonidine

Approved

Phase 4

4205-91-8, 4205-90-7

2803 20179

Ketorolac

Approved

Phase 4

74103-06-3, 66635-83-4

3826

Vitamin A

Approved, Nutraceutical, Vet_approved

Phase 4

22737-96-8, 68-26-8

5280382 445354

Dermatologic Agents

Phase 4

Neuromuscular Blocking Agents

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Platelet Aggregation Inhibitors

Phase 4

Anesthetics, Intravenous

Phase 4

Anesthetics, Inhalation

Phase 4

Anesthetics, General

Phase 4

Anesthetics, Dissociative

Phase 4

Hypnotics and Sedatives

Phase 4

Vitamins

Phase 4

Trace Elements

Phase 4

Micronutrients

Phase 4

Retinol palmitate

Phase 4

Antioxidants

Phase 4

Parasympatholytics

Phase 4

Neurotransmitter Agents

Phase 4

Adrenergic Agents

Phase 4

Antihypertensive Agents

Phase 4

Cardiotonic Agents

Phase 4

Adrenergic alpha-Agonists

Phase 4

Adrenergic Agonists

Phase 4

Vasoconstrictor Agents

Phase 4

Respiratory System Agents

Phase 4

Muscarinic Antagonists

Phase 4

Cholinergic Antagonists

Phase 4

Sympathomimetics

Phase 4

Cholinergic Agents

Phase 4

Protective Agents

Phase 4

Nasal Decongestants

Phase 4

Sympatholytics

Phase 4

Analgesics

Phase 4

Antirheumatic Agents

Phase 4

Ketorolac Tromethamine

Phase 4

Cyclooxygenase Inhibitors

Phase 4

Anti-Inflammatory Agents, Non-Steroidal

Phase 4

Interventional clinical trials:

(show top 50) (show all 139)

#	Name	Status	NCT ID	Phase	Drugs
1	Oral Zinc Supplementation Improving Growth and Reducing Morbidity on Very Low Birth Weight Infant	Unknown status	NCT04050488	Phase 4	Zinc Sulfate;Placebos
2	DECREASING THE NEED FOR MECHANICAL VENTILATION AFTER RETINOPATHY OF PREMATURITY SURGERY: Sedation vs General Anesthesia	Completed	NCT01955135	Phase 4	Ketamine;Sevoflurane;propofol
3	Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage V.	Completed	NCT00500396	Phase 4
4	Does Additional Vitamin A Supplementation Improve Retinal Function and Conjunctival Health in Very Low Birthweight Infants?	Completed	NCT00417404	Phase 4	Aquasol A;aquasol A
5	Efficacy and Safety of Mydriatic Microdrops Compared With Standard Drops for Retinopathy of Prematurity (ROP) Screening: a Pilot Randomized Clinical Trial	Completed	NCT04623684	Phase 4	Microdrop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 6-7 μL)];Standard drop administration [phenylephrine 1.67% + tropicamide 0.33% (drop volume: 28-34 μL)]
6	Vascular Endothelial Growth Factor Levels in Aqueous, Vitreous and Subretinal Fluid in Patients With Retinopathy of Prematurity Stage IV and V	Completed	NCT00563121	Phase 4
7	Sucrose and Non Nutritive Suck as Analgesia for Babies Undergoing Retinopathy of Prematurity Screening; a Randomised Placebo Controlled Trial	Completed	NCT00921544	Phase 4
8	Comparison of the Vascular Endothelial Growth Factor Serum Concentrations After Intravitreal Use of Bevacizumab or Ranibizumab as a Treatment for Type 1 Retinopathy of Prematurity	Completed	NCT03148132	Phase 4	Bevacizumab Injection;Ranibizumab Ophthalmic
9	Changes in Vital Signs and Pupil Diameter Related to Pharmacologic Mydriasis in Premature Infants: A Randomized Double Blind Clinical Study	Completed	NCT04838665	Phase 4	0.5% cyclopentolate and 2.5% phenylephrine;0.5% tropicamide + 0.5% phenylephrine;0.5% tropicamide + 0.5% phenylephrine with a cotton wick
10	Efficacy and Safety of Mydriatic Microdrops for Retinopathy Of Prematurity Screening: a Non-inferiority Crossover Randomized Controlled Trial (MyMiROPS Trial)	Recruiting	NCT05043077	Phase 4	Microdrop administration of phenylephrine 1.67% and tropicamide 0.33%;Standard drop administration of phenylephrine 1.67% and tropicamide 0.33%
11	Clonidine as Pain Relief During ROP Eye Examinations	Recruiting	NCT04902859	Phase 4	Clonidine Oral Liquid Product;Sterile water
12	Topical Application of ACULAR a Randomized, Vehicle Controlled Clinical Trial: Efficiency in Inhibiting Proliferative Retinopathy of Prematurity	Terminated	NCT00634972	Phase 4	ACULAR;REFRESH TEARS;placebo
13	Fasudil Eye Drop in Retinopathy Of Prematurity, Retinal Vascularization Induction and Disease Progression Inhibition, a Randomized Clinical Trial	Unknown status	NCT04191954	Phase 2, Phase 3	Fasudil eye drops (concentration 0.5 percent);receive artificial tears drop
14	The Early Treatment for Retinopathy of Prematurity Study (ETROP)	Unknown status	NCT00027222	Phase 2, Phase 3
15	Effect of Cysteine Supplementation on Glutathione Production in Critically Ill Neonates	Unknown status	NCT00254176	Phase 2, Phase 3
16	Antiangiogenic Therapy With Bevacizumab in Retinopathy of Prematurity. Structural Outcome	Unknown status	NCT00346814	Phase 2, Phase 3	intravitreal injection
17	A Randomised Intervention Single Center Study to Determine the Role of Fatty Acids in Serum in Preventing Retinopathy of Prematurity	Completed	NCT02760472	Phase 3	SMOFlipid;Clinoleic
18	Randomized, Controlled, Multi-Center Study to Assess the Efficacy, Safety, and Tolerability of Intravitreal Aflibercept Compared to Laser Photocoagulation in Patients With Retinopathy of Prematurity	Completed	NCT04101721	Phase 3	aflibercept
19	RAINBOW Study: a Randomized, Controlled Study Evaluating the Efficacy and Safety of RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity	Completed	NCT02375971	Phase 3	Ranibizumab
20	Open-label, Randomized, Two-Arm, Controlled Study to Assess the Efficacy, Safety, and Tolerability of Intravitreal (IVT) Aflibercept Compared to Laser Photocoagulation in Patients With Retinopathy of Prematurity (ROP)	Completed	NCT04004208	Phase 3	Eylea (Aflibercept, BAY86-5321)
21	A Randomized Controlled Trial on the Effectiveness of Inhaled Nitrous Oxide for Pain Relief During ROP Screening Exam in the Pre-term Infant	Completed	NCT00623220	Phase 3
22	Safety and Efficacy of Treatment With Propranolol in Newborns With Retinopathy of Prematurity: a Pilot Study	Completed	NCT01079715	Phase 2, Phase 3	Propranolol
23	Surfactant Positive Airway Pressure and Pulse Oximetry Trial (SUPPORT) in Extremely Low Birth Weight Infants	Completed	NCT00233324	Phase 3	Surfactant;Supplemental oxygen with target saturation of 85 to 89%;Supplemental oxygen with target saturation of 91 to 95%
24	The Effects of Light Reduction on Retinopathy of Prematurity (Light-ROP)	Completed	NCT00000156	Phase 3
25	Supplemental Therapeutic Oxygen for Prethreshold Retinopathy of Prematurity	Completed	NCT01203436	Phase 2, Phase 3
26	A Randomized Trial of Low-Dose Bevacizumab Versus Laser for Type 1 Retinopathy of Prematurity	Recruiting	NCT04634604	Phase 3	Bevacizumab
27	Comparison Between Intravitreal Injection of Ranibizumab and Bevacizumab for Treatment of Type 1 Retinopathy of Prematurity	Recruiting	NCT05033106	Phase 3	Bevacizumab, Ranibizumab
28	RAINBOW Extension Study: an Extension Study to Evaluate the Long Term Efficacy and Safety of RAnibizumab Compared With Laser Therapy for the Treatment of INfants BOrn Prematurely With Retinopathy of Prematurity	Active, not recruiting	NCT02640664	Phase 3	Ranibizumab
29	An Extension Study to Evaluate the Long-term Outcomes of Subjects Who Received Treatment for Retinopathy of Prematurity in Study 20090	Active, not recruiting	NCT04015180	Phase 3	Eylea (Aflibercept, BAY86-5321)
30	INS-3: A Phase 3, Randomized, Double-Masked, Placebo-Controlled Study of the Efficacy and Safety of Myo-Inositol 5% Injection to Increase Survival Without Severe Retinopathy of Prematurity (Reduce-ROP) in Extremely Premature Infants	Terminated	NCT01954082	Phase 3	myo-Inositol 5% Injection;Placebo
31	Safety and Efficacy of Propranolol Treatment in Newborns With Retinopathy of Prematurity:a Prospective Cohort Study	Unknown status	NCT03038295	Phase 2	Propranolol;placebo
32	Early Treatment With Recombinant Erythropoietin for Neuroprotection in Very Preterm Infants: Comparison of High and Low Dose	Unknown status	NCT00910234	Phase 1, Phase 2	recombinant human erythropoietin (rhEpo);Normal saline
33	Intravitreal Bevacizumab (AvastinTM) Injections Versus Conventional Laser Surgery for Vision-threatening Retinopathy of Prematurity: a Prospective, Randomized, Non-blinded, Controlled, Multi-center, Clinical Trial	Unknown status	NCT00622726	Phase 2	Bevacizumab
34	Multicenter Randomized Double Masked Parallel Design Exploratory Study to Assess Safety and Efficacy of Two Different Doses of Intravitreal Anti-VEGF Treatment With Ranibizumab (0.12 mg vs. 0.20 mg) in Infants With Retinopathy of Prematurity (ROP)	Completed	NCT02134457	Phase 2
35	Safety and Efficacy of Propranolol Eye Drops in Newborns With Retinopathy of Premature (DROP-PROP)	Completed	NCT02014454	Phase 2	Propranolol eye drops
36	Synergistic Pharmacologic Intervention for Prevention of ROP (SPIPROP STUDY)	Completed	NCT02344225	Phase 2	Caffeine citrate;Ibuprofen;Ketorolac
37	Phase II Randomized, Double-Masked, Placebo-Controlled, Safety, Pharmacokinetic, and Dose-Ranging Study of Multiple Doses of Inositol in Premature Infants	Completed	NCT01030575	Phase 2	Inositol lower volume;Inositol mid-level volume;Inositol high volume;Placebo low volume
38	Single-Dose Intravenous Inositol Pharmacokinetics in Preterm Infants	Completed	NCT00349726	Phase 2	Inositol lower volume;Inositol higher volume;Placebo lower volume;Placebo higher volume
39	Long-term Outcome of Children Enrolled in Study ROPP-2008-01 Previously Treated With rhIGF-1/rhIGFBP-3 for the Prevention of Retinopathy of Prematurity (ROP) or Who Received Standard Neonatal Care	Completed	NCT02386839	Phase 2	rhIGF-1/rhIGFBP-3
40	Safety and Efficacy of Propranolol 0.2% Eye Drops in Treating Newborn With Retinopathy of Premature: A Pilot Study (DROP-ROP-0.2%)	Completed	NCT02504944	Phase 2	Propranolol 0.2% eye drops
41	Determination of the rhIGF-1/rhIGFBP-3 Dose, Administered as a Continuous Infusion, Required to Establish and Maintain Longitudinal Serum IGF-1 Levels Within Physiological Levels in Premature Infants, to Prevent Retinopathy of Prematurity A Phase 2, Randomized Controlled, Assessor-blind, Dose Confirming, Pharmacokinetic, Safety and Efficacy, Multicenter Study	Completed	NCT01096784	Phase 2	rhIGF-I/rhIGFBP-3
42	Omega-3 Long Chain Polyunsaturated Fatty Acid (LCPUFA) Supplementation in Very Low Birth Weight Infants for The Prevention Retinopathy of Prematurity: Proposal for a Prospective Randomized Controlled Masked Clinical Trial With Lipidomic and Transcriptomic Analyses	Completed	NCT02486042	Phase 2	Omegaven
43	Oral Propranolol Versus Placebo for Early Stages of Retinopathy of Prematurity (ROP): A Pilot, Randomized and Prospective Study.	Completed	NCT01238471	Phase 1, Phase 2	propranolol;sucrose 5%
44	PhaseI/II Investigator-Initiated Trial to Investigate Safety and Efficacy of Ripasudil in Patients With Retinopathy of Prematurity	Recruiting	NCT04621136	Phase 1, Phase 2	Ripasudil ophthalmic solution 0.4%
45	Bevacizumab Treatment For Posterior Zone I Retinopathy of Prematurity	Recruiting	NCT04634578	Phase 2	Bevacizumab
46	Oral Propranolol for Prevention of Threshold Retinopathy of Prematurity	Recruiting	NCT03083431	Phase 2	Propranolol;Placebo
47	Umbilical or Adult Donor Red Blood Cells to Transfuse Extremely Low Gestational Age Neonates. A Randomized Trial to Assess the Effect on Retinopathy of Prematurity Severity.	Recruiting	NCT05100212	Phase 2
48	A Phase 2b, Multicenter, Randomized, Open-label, Controlled, 3-Arm Study to Evaluate the Clinical Efficacy and Safety of SHP607 in Preventing Chronic Lung Disease Through 12 Months Corrected Age Compared to Standard Neonatal Care in Extremely Premature Infants	Active, not recruiting	NCT03253263	Phase 2	SHP607
49	Pan-VEGF Blockade for the Treatment of Retinopathy of Prematurity (BLOCK-ROP)	Withdrawn	NCT01232777	Phase 2	Bevacizumab
50	Safety and Effectiveness Phase 1 Study of Autologous Umbilical Cord Blood Transfusion for the Prevention and Treatment of Prematurity Complications In Preterm Neonates	Unknown status	NCT02050971	Phase 1

Search NIH Clinical Center for Exudative Vitreoretinopathy 1

Cochrane evidence based reviews: retinopathy of prematurity

Sources

Genetic Tests for Exudative Vitreoretinopathy 1

Genetic tests related to Exudative Vitreoretinopathy 1:

#	Genetic test	Affiliating Genes
1	Exudative Vitreoretinopathy 1 ²⁸	FZD4 LRP5
2	Retinopathy of Prematurity ²⁸

Sources

Anatomical Context for Exudative Vitreoretinopathy 1

Organs/tissues related to Exudative Vitreoretinopathy 1:

MalaCards : Eye, Retina, Endothelial, Skin, Breast, Lung, Bone

Sources

Publications for Exudative Vitreoretinopathy 1

Articles related to Exudative Vitreoretinopathy 1:

(show top 50) (show all 8792)

#	Title	Authors	PMID	Year
1	The role of Frizzled-4 mutations in familial exudative vitreoretinopathy and Coats disease. ⁶² ⁵⁷ ⁵	Robitaille JM...Guernsey DL	21097938	2011
2	Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes. ⁶² ⁵⁷ ⁵	Qin M...Kondo H	15981244	2005
3	Genetic variants of frizzled-4 gene in familial exudative vitreoretinopathy and advanced retinopathy of prematurity. ⁶² ⁵⁷ ⁵	MacDonald ML...Shastry BS	15733276	2005
4	Novel mutation in FZD4 gene in a Japanese pedigree with familial exudative vitreoretinopathy. ⁶² ⁵⁷ ⁵	Yoshida S...Ishibashi T	15488808	2004
5	Frizzled 4 gene (FZD4) mutations in patients with familial exudative vitreoretinopathy with variable expressivity. ⁶² ⁵⁷ ⁵	Kondo H...Hayashi K	14507768	2003
6	Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. ⁶² ⁵⁷ ⁵	Robitaille J...Samuels ME	12172548	2002
7	Exome sequencing revealed Notch ligand JAG1 as a novel candidate gene for familial exudative vitreoretinopathy. ⁶² ⁵⁷	Zhang L...Yang Z	31273345	2020
8	Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. ⁶² ⁵⁷	Rao FQ...Jin ZB	28494495	2017
9	Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations. ⁶² ⁵⁷	Robitaille JM...Bedard K	25124931	2014
10	Clinical presentation of familial exudative vitreoretinopathy. ⁶² ⁵⁷	Ranchod TM...Trese MT	21868098	2011
11	Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. ⁶² ⁵	Nikopoulos K...Cremers FP	20340138	2010
12	Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy. ⁶² ⁵⁷	Poulter JA...Toomes C	20159112	2010
13	The rod photoreceptors in retinopathy of prematurity: an electroretinographic study. ⁶² ⁵⁷	Fulton AB...Vanderveen DK	11296015	2001
14	Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families. ⁶² ⁵⁷	Muller B...Gal A	8020986	1994
15	The autosomal dominant familial exudative vitreoretinopathy locus maps on 11q and is closely linked to D11S533. ⁶² ⁵⁷	Li Y...Gal A	1415220	1992
16	The gene for autosomal dominant familial exudative vitreoretinopathy (Criswick-Schepens) on the long arm of chromosome 11. ⁶² ⁵⁷	Li Y...Laqua H	1598965	1992
17	Juvenile retinal detachment as a complication of familial exudative vitreoretinopathy. ⁶² ⁵⁷	van Nouhuys CE	2759534	1989
18	Retinal vascular pattern in familial exudative vitreoretinopathy. ⁶² ⁵⁷	Miyakubo H...Miyakubo S	6084219	1984
19	Criswick-Schepens syndrome (familial exudative vitreoretinopathy). Study of a Colombian kindred. ⁶² ⁵⁷	Nicholson DH...Galvis V	6487118	1984
20	Falciform retinal fold as sign of familial exudative vitreoretinopathy. ⁶² ⁵⁷	Nishimura M...Sanui H	6855020	1983
21	Fluorescein angiographic findings in familial exudative vitreoretinopathy. ⁶² ⁵⁷	Canny CL...Oliver GL	947162	1976
22	Signs, complications, and platelet aggregation in familial exudative vitreoretinopathy. ⁵⁷	van Nouhuys CE	1985487	1991
23	The histopathology of familial exudative vitreoretinopathy. A report of two cases. ⁵⁷	Boldrey EE...Friberg T	3977696	1985
24	Autosomal dominant exudative vitreoretinopathy. ⁵⁷	Feldman EL...Cleasby GW	6626002	1983
25	Retinal involvement in familial exudative vitreoretinopathy. ⁵⁷	Miyakubo H...Hashimoto K	7133626	1982
26	Pathologic findings in familial exudative vitreoretinopathy. ⁵⁷	Brockhurst RJ...Zakov ZN	7305712	1981
27	Congenital retinal fold as a sign of dominant exudative vitreoretinopathy. ⁵⁷	van Nouhuys CE	6911005	1981
28	Autosomal dominant exudative vitreoretinopathy. ⁵⁷	Ober RR...Sehmi K	7362811	1980
29	Familial exudative vitreoretinopathy. ⁵⁷	Laqua H	6906151	1980
30	Familial exudative vitreoretinopathy. ⁵⁷	Slusher MM...Hutton WE	434067	1979
31	Flourescein angiography in mild stages of dominant exudative vitreoretinopathy. ⁵⁷	Nijhuis FA...Aan de Kerk AL	548734	1979
32	Dominantly inherited peripheral retinal neovascularization. ⁵⁷	Gitter KA...Azar P	687201	1978
33	Familial exudative vitreoretinopathy. An expanded view. ⁵⁷	Gow J...Oliver GL	5571414	1971
34	Familial exudative vitreoretinopathy. ⁵⁷	Criswick VG...Schepens CL	5394449	1969
35	CONGENITAL RETINAL FOLD. ⁵⁷	Mann I	18169329	1935
36	Association between postnatal weight gain and need for treatment in retinopathy of prematurity. ⁶²	Cabanas Poy MJ...Gorgas Torner MQ	34157934	2022
37	Peripapillary Retinal Nerve Fiber Layer Thickness in Adults Born Extremely, Very, and Moderately Preterm With and Without Retinopathy of Prematurity: Results From the Gutenberg Prematurity Eye Study (GPES). ⁶²	Fie? A...Schuster AK	35932823	2022
38	Short report on retinal vessel metrics and arterial blood pressure in adult individuals born preterm with and without retinopathy of prematurity: results from the Gutenberg Prematurity Eye Study. ⁶²	Fie? A...Schuster AK	35338589	2022
39	A Survey of Neonatal Nurses on Mydriatic Regimens Used in Neonatal Retinopathy of Prematurity Eye Examinations. ⁶²	Kremer L...Broadbent R	33784771	2022
40	Association Between Retinopathy of Prematurity in Very-Low-Birth-Weight Infants and Neurodevelopmental Impairment. ⁶²	Han G...Park WS	35998681	2022
41	Refractive status, biometric components, and functional outcomes of patients with threshold retinopathy of prematurity: systemic review and a 17-year longitudinal study. ⁶²	Chou YB...Yang CS	35729410	2022
42	Practice Patterns and Outcomes of Intravitreal Anti-VEGF Injection for Retinopathy of Prematurity: An International Multicenter Study. ⁶²	Patel NA...Retinopathy of Prematurity Injection Consortium	35863512	2022
43	Is thrombocytopenia and postnatal weight gain associated with treatment-requiring retinopathy of prematurity? A matched case-control study. ⁶²	Seliniotaki AK...Mataftsi A	36468823	2022
44	Macular sensitivity assessment and fixation analysis using microperimetry in children with retinopathy of prematurity. ⁶²	Ozen Tunay Z...Idil A	34108227	2022
45	A Network Meta-Analysis of Retreatment Rates following Bevacizumab, Ranibizumab, Aflibercept, and Laser for Retinopathy of Prematurity. ⁶²	Chang E...Xue K	35842190	2022
46	Effects of less invasive surfactant administration versus intubation-surfactant-extubation on bronchopulmonary dysplasia in preterm infants with respiratory distress syndrome: a single-center, retrospective study from China. ⁶²	Xu CC...Zhu JJ	36471386	2022
47	Variability in Plus Disease Diagnosis using Single and Serial Images. ⁶²	Cole ED...Imaging and Informatics in Retinopathy of Prematurity (i-ROP) Research Consortium	35659941	2022
48	Retinopathy prematurity: a systematic review and meta-analysis study based on neonatal and maternal risk factors. ⁶²	Bahmani T...Daliri S	34256661	2022
49	Predicting outcomes of mechanically ventilated premature infants using respiratory severity score. ⁶²	Bhattacharjee I...Aly H	33280479	2022
50	Lipid peroxidation products as predictors of oxidant-mediated disease in preterm infants. ⁶²	Katti K...Weinberger B	33397176	2022

Sources

Genes for Exudative Vitreoretinopathy 1

Genes related to Exudative Vitreoretinopathy 1 (5 elite genes):

(show top 50) (show all 70)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FZD4	Frizzled Class Receptor 4	Protein Coding	1365.07	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)	12172548 14507768 15488808 (more) 15733276 15981244 20340138 23441120
2	LRP5	LDL Receptor Related Protein 5	Protein Coding	863.94	Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Gene name (show sections)	23441120
3	PRSS23	Serine Protease 23	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	12172548 14507768 15488808 (more) 15733276 15981244 20340138
4	CTNNB1	Catenin Beta 1	Protein Coding	404.84	Pathogenic ⁵ DISEASES inferred ¹⁴
5	NDP	Norrin Cystine Knot Growth Factor NDP	Protein Coding	32.27	Susceptibility factor ⁵⁸ DISEASES inferred ¹⁴	20301506
6	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	8.44	DISEASES inferred ¹⁴
7	DLX6-AS1	DLX6 Antisense RNA 1	RNA Gene	7.98	DISEASES inferred ¹⁴
8	CRYAA	Crystallin Alpha A	Protein Coding	7.56	DISEASES inferred ¹⁴ ¹⁴
9	IGF1	Insulin Like Growth Factor 1	Protein Coding	7.2	DISEASES inferred ¹⁴
10	TSPAN12	Tetraspanin 12	Protein Coding	6.81	DISEASES inferred ¹⁴
11	EPO	Erythropoietin	Protein Coding	6.77	DISEASES inferred ¹⁴
12	FLT1	Fms Related Receptor Tyrosine Kinase 1	Protein Coding	6.72	DISEASES inferred ¹⁴
13	KDR	Kinase Insert Domain Receptor	Protein Coding	6.71	DISEASES inferred ¹⁴
14	PGF	Placental Growth Factor	Protein Coding	6.66	DISEASES inferred ¹⁴
15	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	6.58	DISEASES inferred ¹⁴
16	PPIG	Peptidylprolyl Isomerase G	Protein Coding	6.46	DISEASES inferred ¹⁴ ¹⁴
17	MIR20A	MicroRNA 20a	RNA Gene	6.4	DISEASES inferred ¹⁴ ¹⁴
18	ZNF408	Zinc Finger Protein 408	Protein Coding	6.25	DISEASES inferred ¹⁴
19	TEK	TEK Receptor Tyrosine Kinase	Protein Coding	6.08	DISEASES inferred ¹⁴
20	ANGPT2	Angiopoietin 2	Protein Coding	5.99	DISEASES inferred ¹⁴
21	FGF2	Fibroblast Growth Factor 2	Protein Coding	5.98	DISEASES inferred ¹⁴
22	RHO	Rhodopsin	Protein Coding	5.98	DISEASES inferred ¹⁴
23	CDH5	Cadherin 5	Protein Coding	5.97	DISEASES inferred ¹⁴
24	ELDR	EGFR Long Non-Coding Downstream RNA	RNA Gene	5.96	DISEASES inferred ¹⁴
25	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	5.85	DISEASES inferred ¹⁴
26	IGFBP3	Insulin Like Growth Factor Binding Protein 3	Protein Coding	5.84	DISEASES inferred ¹⁴
27	IL1B	Interleukin 1 Beta	Protein Coding	5.82	DISEASES inferred ¹⁴
28	IL6	Interleukin 6	Protein Coding	5.82	DISEASES inferred ¹⁴
29	VEGFB	Vascular Endothelial Growth Factor B	Protein Coding	5.8	DISEASES inferred ¹⁴
30	ANGPT1	Angiopoietin 1	Protein Coding	5.79	DISEASES inferred ¹⁴
31	COL18A1	Collagen Type XVIII Alpha 1 Chain	Protein Coding	5.67	DISEASES inferred ¹⁴
32	NOS3	Nitric Oxide Synthase 3	Protein Coding	5.64	DISEASES inferred ¹⁴
33	SCG3	Secretogranin III	Protein Coding	5.63	DISEASES inferred ¹⁴
34	ACTB	Actin Beta	Protein Coding	5.6	DISEASES inferred ¹⁴
35	INS	Insulin	Protein Coding	5.6	DISEASES inferred ¹⁴
36	TNF	Tumor Necrosis Factor	Protein Coding	5.59	DISEASES inferred ¹⁴
37	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	5.57	DISEASES inferred ¹⁴
38	BDNF	Brain Derived Neurotrophic Factor	Protein Coding	5.56	DISEASES inferred ¹⁴
39	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	5.53	DISEASES inferred ¹⁴
40	ALB	Albumin	Protein Coding	5.52	DISEASES inferred ¹⁴
41	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	5.48	DISEASES inferred ¹⁴
42	CRP	C-Reactive Protein	Protein Coding	5.46	DISEASES inferred ¹⁴
43	THBS1	Thrombospondin 1	Protein Coding	5.41	DISEASES inferred ¹⁴
44	RPE65	Retinoid Isomerohydrolase RPE65	Protein Coding	5.39	DISEASES inferred ¹⁴
45	VEGFC	Vascular Endothelial Growth Factor C	Protein Coding	5.39	DISEASES inferred ¹⁴
46	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	5.39	DISEASES inferred ¹⁴
47	NRP1	Neuropilin 1	Protein Coding	5.36	DISEASES inferred ¹⁴
48	SERPINF1	Serpin Family F Member 1	Protein Coding	5.36	DISEASES inferred ¹⁴
49	VLDLR	Very Low Density Lipoprotein Receptor	Protein Coding	5.31	DISEASES inferred ¹⁴
50	PDGFB	Platelet Derived Growth Factor Subunit B	Protein Coding	5.28	DISEASES inferred ¹⁴

Sources

Variations for Exudative Vitreoretinopathy 1

ClinVar genetic disease variations for Exudative Vitreoretinopathy 1:

⁵ (show top 50) (show all 150)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FZD4, PRSS23	NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del)	DEL	Pathogenic	5484	rs80358301	GRCh37: 11:86662314-86662319 GRCh38: 11:86951272-86951277
2	FZD4, PRSS23	NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln)	SNV	Pathogenic	5486	rs80358294	GRCh37: 11:86662548-86662548 GRCh38: 11:86951506-86951506
3	FZD4, PRSS23	NM_012193.4(FZD4):c.1024A>G (p.Met342Val)	SNV	Pathogenic	5487	rs80358293	GRCh37: 11:86662774-86662774 GRCh38: 11:86951732-86951732
4	FZD4, PRSS23	NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys)	SNV	Pathogenic	5488	rs80358292	GRCh37: 11:86662793-86662793 GRCh38: 11:86951751-86951751
5	CTNNB1	NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs)	INSERT	Pathogenic	225170	rs1057519379	GRCh37: 3:41275268-41275269 GRCh38: 3:41233777-41233778
6	CTNNB1	NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter)	DUP	Pathogenic	225172	rs1057519380	GRCh37: 3:41280628-41280629 GRCh38: 3:41239137-41239138
7	overlap with 15 genes		DEL	Pathogenic	560087		GRCh37: 11:83315294-86755595 GRCh38:
8	LRP5	NM_002335.4(LRP5):c.1412+1G>A	SNV	Pathogenic	929300	rs2098643283	GRCh37: 11:68154181-68154181 GRCh38: 11:68386713-68386713
9	FZD4, PRSS23	NM_012193.4(FZD4):c.766A>G (p.Ile256Val)	SNV	Pathogenic Pathogenic	5489	rs104894223	GRCh37: 11:86663032-86663032 GRCh38: 11:86951990-86951990
10	CTNNB1	NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys)	SNV	Pathogenic	225171	rs748653573	GRCh37: 3:41279558-41279558 GRCh38: 3:41238067-41238067
11	LRP5	NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)	SNV	Pathogenic	6274	rs121908664	GRCh37: 11:68157417-68157417 GRCh38: 11:68389949-68389949
12	FZD4, PRSS23	NM_012193.4(FZD4):c.1273del (p.Thr425fs)	DEL	Pathogenic	1706535		GRCh37: 11:86662525-86662525 GRCh38: 11:86951483-86951483
13	FZD4, PRSS23	NM_012193.4(FZD4):c.313A>G (p.Met105Val)	SNV	Pathogenic	224624	rs80358284	GRCh37: 11:86663485-86663485 GRCh38: 11:86952443-86952443
14	FZD4, PRSS23	NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs)	MICROSAT	Likely Pathogenic	5485	rs80358303	GRCh37: 11:86662296-86662297 GRCh38: 11:86951254-86951255
15	LRP5	NM_002335.4(LRP5):c.2555C>T (p.Thr852Met)	SNV	Likely Pathogenic	1179140		GRCh37: 11:68181208-68181208 GRCh38: 11:68413740-68413740
16	FZD4, PRSS23	NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs)	MICROSAT	Likely Pathogenic	224625	rs80358295	GRCh37: 11:86662513-86662516 GRCh38: 11:86951471-86951474
17	LRP5	NM_002335.4(LRP5):c.2585A>T (p.Asp862Val)	SNV	Likely Pathogenic	929301	rs2098660903	GRCh37: 11:68181238-68181238 GRCh38: 11:68413770-68413770
18	FZD4, PRSS23	NM_012193.4(FZD4):c.964A>T (p.Ile322Phe)	SNV	Likely Pathogenic	929302	rs1408259285	GRCh37: 11:86662834-86662834 GRCh38: 11:86951792-86951792
19	FZD4, PRSS23	NM_012193.4(FZD4):c.615del (p.Tyr206fs)	DEL	Likely Pathogenic	929303	rs1949299271	GRCh37: 11:86663183-86663183 GRCh38: 11:86952141-86952141
20	FZD4, PRSS23	NM_012193.4(FZD4):c.1007G>A (p.Gly336Asp)	SNV	Uncertain Significance	1333625		GRCh37: 11:86662791-86662791 GRCh38: 11:86951749-86951749
21	FZD4, PRSS23	NM_012193.4(FZD4):c.*798G>C	SNV	Uncertain Significance	883237	rs940225405	GRCh37: 11:86661386-86661386 GRCh38: 11:86950344-86950344
22	FZD4, PRSS23	NM_012193.4(FZD4):c.*701C>A	SNV	Uncertain Significance	883238	rs1455077908	GRCh37: 11:86661483-86661483 GRCh38: 11:86950441-86950441
23	FZD4, PRSS23	NM_012193.4(FZD4):c.*3974C>T	SNV	Uncertain Significance	883898	rs1192461347	GRCh37: 11:86658210-86658210 GRCh38: 11:86947168-86947168
24	FZD4, PRSS23	NM_012193.4(FZD4):c.*3953G>C	SNV	Uncertain Significance	883899	rs527684830	GRCh37: 11:86658231-86658231 GRCh38: 11:86947189-86947189
25	FZD4, PRSS23	NM_012193.4(FZD4):c.*2182G>A	SNV	Uncertain Significance	883974	rs776307799	GRCh37: 11:86660002-86660002 GRCh38: 11:86948960-86948960
26	FZD4, PRSS23	NM_012193.4(FZD4):c.*2091A>G	SNV	Uncertain Significance	883975	rs1949267969	GRCh37: 11:86660093-86660093 GRCh38: 11:86949051-86949051
27	FZD4, PRSS23	NM_012193.4(FZD4):c.*522C>G	SNV	Uncertain Significance	884040	rs781583469	GRCh37: 11:86661662-86661662 GRCh38: 11:86950620-86950620
28	FZD4, PRSS23	NM_012193.4(FZD4):c.*461G>A	SNV	Uncertain Significance	884041	rs1949282591	GRCh37: 11:86661723-86661723 GRCh38: 11:86950681-86950681
29	FZD4, PRSS23	NM_012193.4(FZD4):c.*312C>T	SNV	Uncertain Significance	884042	rs1949284049	GRCh37: 11:86661872-86661872 GRCh38: 11:86950830-86950830
30	FZD4, PRSS23	NM_012193.4(FZD4):c.*173T>G	SNV	Uncertain Significance	884043	rs528411909	GRCh37: 11:86662011-86662011 GRCh38: 11:86950969-86950969
31	FZD4, PRSS23	NM_012193.4(FZD4):c.718A>G (p.Thr240Ala)	SNV	Uncertain Significance	930469	rs1949297471	GRCh37: 11:86663080-86663080 GRCh38: 11:86952038-86952038
32	FZD4, PRSS23	NM_012193.4(FZD4):c.461A>G (p.His154Arg)	SNV	Uncertain Significance	801000	rs1334686841	GRCh37: 11:86663337-86663337 GRCh38: 11:86952295-86952295
33	FZD4, PRSS23	NM_012193.4(FZD4):c.*5256G>A	SNV	Uncertain Significance	880530	rs1169755179	GRCh37: 11:86656928-86656928 GRCh38: 11:86945886-86945886
34	FZD4, PRSS23	NM_012193.4(FZD4):c.*5168C>G	SNV	Uncertain Significance	880531	rs1045689207	GRCh37: 11:86657016-86657016 GRCh38: 11:86945974-86945974
35	FZD4, PRSS23	NM_012193.4(FZD4):c.*2150A>C	SNV	Uncertain Significance	306379	rs759211275	GRCh37: 11:86660034-86660034 GRCh38: 11:86948992-86948992
36	FZD4, PRSS23	NM_012193.4(FZD4):c.*3686C>G	SNV	Uncertain Significance	880610	rs1024516631	GRCh37: 11:86658498-86658498 GRCh38: 11:86947456-86947456
37	FZD4, PRSS23	NM_012193.4(FZD4):c.*4756G>C	SNV	Uncertain Significance	881943	rs184796229	GRCh37: 11:86657428-86657428 GRCh38: 11:86946386-86946386
38	FZD4, PRSS23	NM_012193.4(FZD4):c.*3433T>G	SNV	Uncertain Significance	882026	rs1319823742	GRCh37: 11:86658751-86658751 GRCh38: 11:86947709-86947709
39	FZD4, PRSS23	NM_012193.4(FZD4):c.*3052C>T	SNV	Uncertain Significance	882027	rs1038082119	GRCh37: 11:86659132-86659132 GRCh38: 11:86948090-86948090
40	FZD4, PRSS23	NM_012193.4(FZD4):c.*1459A>G	SNV	Uncertain Significance	882094	rs1021341566	GRCh37: 11:86660725-86660725 GRCh38: 11:86949683-86949683
41	FZD4, PRSS23	NM_012193.4(FZD4):c.*1397A>G	SNV	Uncertain Significance	882095	rs537699768	GRCh37: 11:86660787-86660787 GRCh38: 11:86949745-86949745
42	FZD4, PRSS23	NM_012193.4(FZD4):c.*1252C>T	SNV	Uncertain Significance	882096	rs1412934981	GRCh37: 11:86660932-86660932 GRCh38: 11:86949890-86949890
43	FZD4	NM_012193.4(FZD4):c.18A>C (p.Ala6=)	SNV	Uncertain Significance	882394	rs1949325075	GRCh37: 11:86666110-86666110 GRCh38: 11:86955068-86955068
44	FZD4	NM_012193.4(FZD4):c.-250G>A	SNV	Uncertain Significance	882395	rs899312260	GRCh37: 11:86666377-86666377 GRCh38: 11:86955335-86955335
45	FZD4, PRSS23	NM_012193.4(FZD4):c.*4386T>G	SNV	Uncertain Significance	883121	rs766058090	GRCh37: 11:86657798-86657798 GRCh38: 11:86946756-86946756
46	LRP5	NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)	SNV	Uncertain Significance	183255	rs61889560	GRCh37: 11:68191036-68191036 GRCh38: 11:68423568-68423568
47	FZD4	NM_012193.4(FZD4):c.203G>T (p.Gly68Val)	SNV	Uncertain Significance	1705329		GRCh37: 11:86665925-86665925 GRCh38: 11:86954883-86954883
48	ZNF408	NM_024741.2(ZNF408):c.-214_-210delGAATC	DEL	Uncertain Significance	183054	rs796065313	GRCh37: 11:46722382-46722386 GRCh38: 11:46700832-46700836
49	ZNF408	NM_024741.2(ZNF408):c.-111C>A	SNV	Uncertain Significance	183055	rs796065314	GRCh37: 11:46722487-46722487 GRCh38: 11:46700937-46700937
50	FZD4	NM_012193.4(FZD4):c.84G>C (p.Leu28=)	SNV	Uncertain Significance	882148	rs1280981405	GRCh37: 11:86666044-86666044 GRCh38: 11:86955002-86955002

UniProtKB/Swiss-Prot genetic disease variations for Exudative Vitreoretinopathy 1:

⁷³ (show all 23)

#	Symbol	AA change	Variation ID	SNP ID
1	FZD4	p.Met105Val	VAR_038947	rs80358284
2	FZD4	p.Met157Val	VAR_038948	rs80358286
3	FZD4	p.Gly36Asp	VAR_063921	rs80358281
4	FZD4	p.Glu40Gln	VAR_063922	rs139401671
5	FZD4	p.His69Tyr	VAR_063923	rs80358282
6	FZD4	p.Met105Thr	VAR_063924	rs80358285
7	FZD4	p.Ile114Thr	VAR_063925
8	FZD4	p.Cys181Arg	VAR_063927	rs80358287
9	FZD4	p.Cys204Arg	VAR_063929	rs80358288
10	FZD4	p.Cys204Tyr	VAR_063930	rs1064794064
11	FZD4	p.Met223Lys	VAR_063931
12	FZD4	p.Ile256Val	VAR_063932	rs104894223
13	FZD4	p.Trp335Cys	VAR_063933	rs80358292
14	FZD4	p.Met342Val	VAR_063934	rs80358293
15	FZD4	p.Arg417Gln	VAR_063936	rs80358294
16	FZD4	p.Thr445Pro	VAR_063937	rs80358297
17	FZD4	p.Gly488Asp	VAR_063938	rs80358298
18	FZD4	p.Ser497Phe	VAR_063939	rs80358300
19	FZD4	p.Gly525Arg	VAR_063940
20	LRP5	p.Arg348Trp	VAR_063948	rs1320065036
21	LRP5	p.Asp381Asn	VAR_076548	rs1332274863
22	LRP5	p.Arg624Trp	VAR_076549	rs989864153
23	LRP5	p.Tyr1517Cys	VAR_076550	rs201030241

Sources

Expression for Exudative Vitreoretinopathy 1

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 1.

Sources

Pathways for Exudative Vitreoretinopathy 1

Pathways related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 44)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.72	VEGFA TEK PGF LRP5 KDR IGF1
2	Signal Transduction ⁶⁶	13.69	VEGFA TEK PGF LRP5 KDR IGF1
3	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.51	ANGPT2 EPO FLT1 IGF1 KDR PGF
4	PAK Pathway ⁶⁴ Show member pathways Antioxidant Action of Vitamin-C ⁶⁴ Epithelial Adherens Junctions ⁶⁴	13.27	TEK PGF KDR IGF1 FLT1 CTNNB1
5	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.22	CTNNB1 FLT1 FZD4 IGF1 KDR PGF
6	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.76	VEGFA PGF KDR IGF1 HIF1A FLT1
7	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.59	PGF KDR IGF1 FLT1 EPO
8	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	12.42	VEGFA TEK PGF KDR IGF1 HIF1A
9	Breast cancer pathway ⁷⁴ Show member pathways Embryonic stem cell pluripotency pathways ⁷⁴	12.41	LRP5 IGF1 FZD4 CTNNB1
10	VEGF Pathway (Qiagen) ⁶⁴ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁴ Development VEGF-family signaling ²² Neurophilin interactions with VEGF and VEGFR ⁶⁶ VEGF and VEGFR signaling network ⁶¹ VEGF Family Ligands and Receptor Interactions ⁶⁴	12.38	VEGFA PGF KDR FLT1
11	G-protein signaling RAC1 in cellular process ²² Show member pathways CDC42 signaling events ⁶¹ Cytoskeleton remodeling CDC42 in cellular processes ²² RAC1 signaling pathway ⁶¹	12.35	TEK PGF KDR IGF1 FLT1 CTNNB1
12	Signaling by VEGF ⁶⁶ Show member pathways VEGFA-VEGFR2 Pathway ⁶⁶	12.26	VEGFA PGF KDR FLT1 CTNNB1
13	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.17	TEK KDR FZD4 FLT1
14	Colorectal Cancer Metastasis ⁶⁴	12.15	VEGFA LRP5 FZD4 CTNNB1
15	Focal adhesion ⁷⁴	12.14	VEGFA PGF KDR IGF1 FLT1 CTNNB1
16	Epithelial to mesenchymal transition in colorectal cancer ⁷⁴	12.13	LRP5 HIF1A FZD4 CTNNB1
17	Tyrosine Kinases / Adaptors ³	12.08	ANGPT2 FLT1 KDR TEK
18	mTOR Signaling ⁶⁵	12.04	LRP5 KDR FZD4 FLT1
19	Malignant pleural mesothelioma ⁷⁴	11.98	VEGFA TEK PRSS23 PGF LRP5 KDR
20	Hippo-Merlin signaling dysregulation ⁷⁴ Show member pathways Hippo signaling regulation pathways ⁷⁴	11.84	TEK KDR FLT1 CTNNB1
21	Clear cell renal cell carcinoma pathways ⁷⁴	11.79	VEGFA KDR HIF1A FLT1
22	Angiogenesis (CST) ³	11.75	TEK KDR HIF1A FLT1 ANGPT2
23	Transcription_P53 signaling pathway ²²	11.68	VEGFA KDR FLT1 CTNNB1
24	HIF-1-alpha transcription factor network ⁶¹	11.66	VEGFA HIF1A EPO
25	Osteoblast differentiation and related diseases ⁷⁴	11.64	LRP5 FZD4 CTNNB1
26	Signaling events mediated by VEGFR1 and VEGFR2 ⁶¹	11.62	CTNNB1 FLT1 KDR VEGFA
27	SHP2 signaling ⁶¹	11.56	VEGFA TEK KDR
28	HIF1Alpha Pathway ⁶⁴	11.56	VEGFA HIF1A EPO
29	NRP1-triggered signaling pathways in pancreatic cancer ⁷⁴	11.55	FLT1 KDR VEGFA
30	Pluripotent stem cell differentiation pathway ⁷⁴	11.49	VEGFA IGF1 EPO
31	Genes controlling nephrogenesis ⁷⁴	11.44	VEGFA KDR CTNNB1
32	Vemurafenib Pathway, Pharmacodynamics ⁶⁰	11.42	VEGFA KDR FLT1
33	Photodynamic therapy-induced HIF-1 survival signaling ⁷⁴	11.33	ANGPT2 EPO HIF1A VEGFA
34	HIF-2-alpha transcription factor network ⁶¹	11.21	VEGFA KDR FLT1 EPO
35	VEGFR1 specific signals ⁶¹	11.02	VEGFA PGF HIF1A FLT1
36	G-protein signaling_Rap2B regulation pathway ²²	10.97	TEK PGF KDR IGF1 FLT1 ANGPT2
37	S1P3 pathway ⁶¹	10.87	VEGFA FLT1
38	Angiogenesis (WikiPathways) ⁷⁴	10.84	FLT1 HIF1A KDR TEK
39	S1P1 pathway ⁶¹	10.83	VEGFA KDR
40	VEGF ligand-receptor interactions ⁶⁶ Show member pathways VEGF binds to VEGFR leading to receptor dimerization ⁶⁶	10.66	VEGFA PGF KDR FLT1
41	MicroRNA for targeting cancer growth and vascularization in glioblastoma ⁷⁴ Show member pathways Oncostatin M signaling pathway ⁷⁴	10.63	VEGFA HIF1A
42	Regorafenib Pathway, Pharmacodynamics ⁶⁰	10.56	TEK KDR FLT1
43	Robo4 and VEGF signaling pathways crosstalk ⁷⁴	10.44	VEGFA KDR
44	SARS-CoV-2 altering angiogenesis via NRP1 ⁷⁴	10.34	VEGFA KDR

Sources

GO Terms for Exudative Vitreoretinopathy 1

Biological processes related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

(show all 40)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of DNA-templated transcription	GO:0045893	10.45	NDP LRP5 IGF1 HIF1A FZD4 EPO
2	positive regulation of cell population proliferation	GO:0008284	10.4	VEGFA PGF LRP5 KDR IGF1 FLT1
3	negative regulation of apoptotic process	GO:0043066	10.36	CRYAA CTNNB1 EPO HIF1A IGF1 KDR
4	positive regulation of cell migration	GO:0030335	10.34	VEGFA KDR IGF1 FZD4 FLT1
5	negative regulation of gene expression	GO:0010629	10.29	VEGFA MIR20A KDR IGF1 HIF1A CTNNB1
6	positive regulation of ERK1 and ERK2 cascade	GO:0070374	10.27	VEGFA TEK KDR IGF1 EPO
7	response to hypoxia	GO:0001666	10.26	ANGPT2 EPO HIF1A PGF VEGFA
8	positive regulation of DNA-binding transcription factor activity	GO:0051091	10.25	NDP LRP5 FZD4 CTNNB1
9	epithelial to mesenchymal transition	GO:0001837	10.15	IGF1 HIF1A CTNNB1
10	positive regulation of blood vessel endothelial cell migration	GO:0043536	10.14	VEGFA KDR HIF1A
11	positive regulation of MAPK cascade	GO:0043410	10.14	VEGFA TEK KDR IGF1 FLT1 CTNNB1
12	positive regulation of osteoblast differentiation	GO:0045669	10.11	MIR20A LRP5 IGF1 CTNNB1
13	sprouting angiogenesis	GO:0002040	10.1	PGF TEK VEGFA
14	branching involved in blood vessel morphogenesis	GO:0001569	10.1	VEGFA KDR CTNNB1
15	positive regulation of neuroblast proliferation	GO:0002052	10.09	VEGFA HIF1A CTNNB1
16	positive regulation of phosphatidylinositol 3-kinase signaling	GO:0014068	10.09	FLT1 IGF1 KDR TEK VEGFA
17	outflow tract morphogenesis	GO:0003151	10.08	VEGFA MIR20A HIF1A
18	positive regulation of focal adhesion assembly	GO:0051894	10.08	VEGFA TEK KDR
19	vasculogenesis	GO:0001570	10.08	CTNNB1 FZD4 KDR VEGFA
20	positive regulation of endothelial cell proliferation	GO:0001938	10.07	HIF1A KDR PGF TEK VEGFA
21	positive regulation of mesenchymal cell proliferation	GO:0002053	10.06	CTNNB1 KDR LRP5
22	vascular endothelial growth factor receptor signaling pathway	GO:0048010	10.06	VEGFA PGF KDR FLT1
23	cellular response to vascular endothelial growth factor stimulus	GO:0035924	10.02	VEGFA MIR20A KDR FLT1
24	vascular wound healing	GO:0061042	9.98	VEGFA KDR
25	positive regulation of mast cell chemotaxis	GO:0060754	9.97	VEGFA PGF
26	hemoglobin biosynthetic process	GO:0042541	9.97	HIF1A EPO
27	retinal blood vessel morphogenesis	GO:0061304	9.97	LRP5 FZD4
28	vascular endothelial growth factor receptor-2 signaling pathway	GO:0036324	9.96	KDR VEGFA
29	positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway	GO:0038033	9.96	KDR VEGFA
30	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO:0061419	9.95	HIF1A VEGFA
31	glomerulus vasculature development	GO:0072012	9.94	TEK ANGPT2
32	Tie signaling pathway	GO:0048014	9.93	TEK ANGPT2
33	blood vessel morphogenesis	GO:0048514	9.9	HIF1A FLT1 ANGPT2
34	retina vasculature morphogenesis in camera-type eye	GO:0061299	9.89	NDP LRP5 FZD4
35	angiogenesis	GO:0001525	9.83	VEGFA TSPAN12 TEK PGF KDR HIF1A
36	extracellular matrix-cell signaling	GO:0035426	9.8	NDP LRP5 FZD4
37	vasculature development	GO:0001944	9.77	CTNNB1 HIF1A LRP5
38	vascular endothelial growth factor signaling pathway	GO:0038084	9.76	FLT1 KDR PGF VEGFA
39	Norrin signaling pathway	GO:0110135	9.73	NDP LRP5 FZD4
40	positive regulation of angiogenesis	GO:0045766	9.5	VEGFA TEK PGF MIR20A KDR HIF1A

Molecular functions related to Exudative Vitreoretinopathy 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane receptor protein tyrosine kinase activity	GO:0004714	9.73	TEK KDR FLT1
2	vascular endothelial growth factor receptor activity	GO:0005021	9.46	KDR FLT1
3	vascular endothelial growth factor receptor binding	GO:0005172	9.26	VEGFA PGF
4	Wnt receptor activity	GO:0042813	9.02	TSPAN12 LRP5 FZD4