MCID: EXD001
MIFTS: 51

Exudative Vitreoretinopathy

Categories: Rare diseases, Genetic diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Exudative Vitreoretinopathy

MalaCards integrated aliases for Exudative Vitreoretinopathy:

Name: Exudative Vitreoretinopathy 12 28 13 14 69
Familial Exudative Vitreoretinopathy 12 49 24 55 36 28
Fevr 12 49 24 55
Criswick-Schepens Syndrome 49 55
Exudative Vitreoretinopathy, Familial 49
Exudative Vitreoretinopathy 1 69

Characteristics:

Orphanet epidemiological data:

55
familial exudative vitreoretinopathy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:0050535
ICD10 32 H35.00
ICD9CM 34 362.10
Orphanet 55 ORPHA891
UMLS via Orphanet 70 C0339539 C1851402
MESH via Orphanet 42 C536382
ICD10 via Orphanet 33 H35.0
KEGG 36 H00589

Summaries for Exudative Vitreoretinopathy

NIH Rare Diseases : 49 Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance. Last updated: 3/4/2011

MalaCards based summary : Exudative Vitreoretinopathy, also known as familial exudative vitreoretinopathy, is related to exudative vitreoretinopathy 1 and norrie disease. An important gene associated with Exudative Vitreoretinopathy is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt signaling pathway and ERK Signaling. Affiliated tissues include retina, eye and testes, and related phenotypes are Decreased substrate adherent cell growth and Decreased substrate adherent cell growth

Disease Ontology : 12 A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina.

Genetics Home Reference : 24 Familial exudative vitreoretinopathy is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the specialized light-sensitive tissue that lines the back of the eye. The disorder prevents blood vessels from forming at the edges of the retina, which reduces the blood supply to this tissue.

Wikipedia : 72 Familial exudative vitreoretinopathy (FEVR) (/ˈfiːvər/ FEE-vər) is a genetic disorder affecting the... more...

Related Diseases for Exudative Vitreoretinopathy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 exudative vitreoretinopathy 1 34.1 CTNNB1 FZD4 LRP5 NDP TSPAN12
2 norrie disease 30.7 CRYZL1 FZD4 LRP5 NDP TSPAN12
3 retinal detachment 30.5 ATOH7 CTNNB1 FZD4 LRP5 NDP TSPAN12
4 persistent hyperplastic primary vitreous, autosomal recessive 30.5 ATOH7 TSPAN12
5 coats disease 30.3 FZD4 NDP RCBTB1 TSPAN12
6 persistent hyperplastic primary vitreous 30.2 ATOH7 FZD4 NDP
7 osteoporosis-pseudoglioma syndrome 30.2 CTNNB1 FZD4 LRP5 NDP
8 exudative vitreoretinopathy 2, x-linked 12.6
9 exudative vitreoretinopathy 4 12.6
10 exudative vitreoretinopathy 3 12.6
11 exudative vitreoretinopathy 5 12.5
12 exudative vitreoretinopathy 6 12.4
13 exudative vitreoretinopathy 7 12.4
14 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 11.1
15 retinitis 10.6
16 leukocoria 10.3 FZD4 NDP
17 retinal telangiectasia 10.3 FZD4 NDP RCBTB1 TSPAN12
18 retinal vascular disease 10.2 FZD4 LRP5 NDP TSPAN12 ZNF408
19 craniodiaphyseal dysplasia 10.1 CTNNB1 LRP5
20 osteoporosis 10.0
21 digeorge syndrome 10.0
22 bone mineral density quantitative trait locus 8 10.0
23 bone mineral density quantitative trait locus 15 10.0
24 choroiditis 10.0
25 myopia 10.0
26 dyskeratosis congenita 10.0
27 macular holes 10.0
28 fibrosis of extraocular muscles, congenital, 1 9.9
29 glaucoma, primary open angle 9.9
30 cutis marmorata telangiectatica congenita 9.9
31 cystic fibrosis 9.9
32 astigmatism 9.9
33 cataract 9.9
34 lymphedema 9.9
35 spinal muscular atrophy 9.9
36 cone dystrophy 9.9
37 open-angle glaucoma 9.9
38 microcephaly 9.9
39 anisometropia 9.9
40 chronic closed-angle glaucoma 9.9
41 muscular atrophy 9.9
42 chorioretinitis 9.9

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



Diseases related to Exudative Vitreoretinopathy

Symptoms & Phenotypes for Exudative Vitreoretinopathy

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-3 8.92 CAMK2G FZD1 FZD7
2 Decreased substrate adherent cell growth GR00193-A-4 8.92 CAMK2G

MGI Mouse Phenotypes related to Exudative Vitreoretinopathy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.13 ATOH7 CTNNB1 FZD1 FZD4 FZD5 FZD7
2 embryo MP:0005380 10.06 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
3 nervous system MP:0003631 10.02 NDP FZD9 LRP5 ATOH7 CTNNB1 FZD1
4 normal MP:0002873 9.86 ATOH7 CTNNB1 FZD1 FZD4 FZD6 FZD8
5 hearing/vestibular/ear MP:0005377 9.85 CTNNB1 FZD1 FZD4 FZD6 NDP TSPAN12
6 pigmentation MP:0001186 9.63 CTNNB1 FZD1 FZD4 FZD7 LRP5 NDP
7 reproductive system MP:0005389 9.56 CTNNB1 FZD1 FZD4 FZD6 KIF11 NDP
8 vision/eye MP:0005391 9.23 CTNNB1 FZD4 FZD5 FZD6 LRP5 NDP

Drugs & Therapeutics for Exudative Vitreoretinopathy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Genetic Studies of Familial Exudative Vitreoretinopathy Completed NCT00106756

Search NIH Clinical Center for Exudative Vitreoretinopathy

Genetic Tests for Exudative Vitreoretinopathy

Genetic tests related to Exudative Vitreoretinopathy:

# Genetic test Affiliating Genes
1 Familial Exudative Vitreoretinopathy 28
2 Exudative Vitreoretinopathy 28

Anatomical Context for Exudative Vitreoretinopathy

MalaCards organs/tissues related to Exudative Vitreoretinopathy:

38
Retina, Eye, Testes

Publications for Exudative Vitreoretinopathy

Articles related to Exudative Vitreoretinopathy:

(show top 50) (show all 190)
# Title Authors Year
1
Clinical and next-generation sequencing findings in a Chinese family exhibiting severe familial exudative vitreoretinopathy. ( 29207047 )
2018
2
Familial Exudative Vitreoretinopathy and Glaucoma: Observations, Insights, and Management Strategies. ( 29088053 )
2018
3
Surgical treatments for fibrous tissue extending to the posterior retina in eyes with familial exudative vitreoretinopathy. ( 29101498 )
2018
4
Familial Exudative Vitreoretinopathy. ( 28418565 )
2017
5
LONGITUDINAL CHANGES IN THE OPTIC NERVE HEAD AND RETINA OVER TIME IN VERY YOUNG CHILDREN WITH FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 29190238 )
2017
6
Mutations in LRP5,FZD4, TSPAN12, NDP, ZNF408, or KIF11 Genes Account for 38.7% of Chinese Patients With Familial Exudative Vitreoretinopathy. ( 28494495 )
2017
7
Risk allele of the FZD4 gene for familial exudative vitreoretinopathy. ( 29135315 )
2017
8
MACULAR HOLE IN A YOUNG PATIENT AFFECTED BY FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 28850050 )
2017
9
Targeted next-generation sequencing analysis identifies novel mutations in families with severe familial exudative vitreoretinopathy. ( 28867931 )
2017
10
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy. ( 28758032 )
2017
11
Mutation Spectrum of the LRP5, NDP, and TSPAN12 Genes in Chinese Patients With Familial Exudative Vitreoretinopathy. ( 29181528 )
2017
12
Exudative Vitreoretinopathy in Dyskeratosis Congenita. ( 28734336 )
2017
13
Variable Familial Exudative Vitreoretinopathy in a family harbouring variants in both FZD4 and TSPAN12. ( 28211206 )
2017
14
RETINAL VASCULAR TORTUOSITY AND EXUDATIVE RETINOPATHY IN A FAMILY WITH DYSKERATOSIS CONGENITA MASQUERADING AS FAMILIAL EXUDATIVE VITREORETINOPATHY. ( 27685501 )
2017
15
Identification of LRP5 mutations in families with familial exudative vitreoretinopathy. ( 28420620 )
2017
16
Familial exudative vitreoretinopathy presentation as persistent fetal vasculature. ( 28413837 )
2017
17
Familial Exudative Vitreoretinopathy With a Novel LRP5 Mutation. ( 27486893 )
2016
18
Simultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy. ( 27007396 )
2016
19
A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy. ( 27668459 )
2016
20
DISTINCTIVE WHITE FUNDUS LESIONS IN FAMILIAL EXUDATIVE VITREORETINOPATHY: A NEWLY CHARACTERIZED CLINICAL FEATURE. ( 27648585 )
2016
21
Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. ( 26908610 )
2016
22
CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. ( 26967979 )
2016
23
Electroretinographic effects of retinal dragging and retinal folds in eyes with familial exudative vitreoretinopathy. ( 27456314 )
2016
24
Anatomical and functional outcomes following vitrectomy for advanced familial exudative vitreoretinopathy: a single surgeon's experience. ( 27793819 )
2016
25
INCREASED POSTERIOR RETINAL VESSELS IN MILD ASYMPTOMATIC FAMILIAL EXUDATIVE VITREORETINOPATHY EYES. ( 26655609 )
2016
26
Whole Exome Sequencing Analysis Identifies Mutations in LRP5 in Indian Families with Familial Exudative Vitreoretinopathy. ( 27228167 )
2016
27
Re: Yonekawa etA al.: Familial exudative vitreoretinopathy: spectral-domain optical coherence tomography of the vitreoretinal interface, retina, and choroid (Ophthalmology 2015;122:2270-7). ( 27107366 )
2016
28
Mutations in ATOH7 gene in patients with nonsyndromic congenital retinal nonattachment and familial exudative vitreoretinopathy. ( 26933893 )
2016
29
Pharmacologic Activation of Wnt Signaling by Lithium Normalizes Retinal Vasculature in a Murine Model of Familial Exudative Vitreoretinopathy. ( 27524797 )
2016
30
Novel mutations in FZD4 and phenotype-genotype correlation in Chinese patients with familial exudative vitreoretinopathy. ( 27555740 )
2016
31
A novel missense mutation of NDP in a Chinese family with X-linked familial exudative vitreoretinopathy. ( 27720678 )
2016
32
Retinopathy of Prematurity Versus Familial Exudative Vitreoretinopathy: Report on Clinical and Angiographic Findings. ( 26731204 )
2016
33
Ultra-wide-field scanning laser ophthalmoscopy assists in the clinical detection and evaluation of asymptomatic early-stage familial exudative vitreoretinopathy. ( 27416933 )
2016
34
Identification of novel KIF11 mutations in patients with familial exudative vitreoretinopathy and a phenotypic analysis. ( 27212378 )
2016
35
Large Deletions of TSPAN12 Cause Familial Exudative Vitreoretinopathy (FEVR). ( 28002565 )
2016
36
SURGICAL MANAGEMENT OF ADVANCED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH COMPLICATIONS. ( 26807630 )
2016
37
Familial exudative vitreoretinopathy: A report of an asymptomatic case with autosomal dominant inheritance detected using FZD4 molecular analysis. ( 27746066 )
2016
38
The Intracellular Loop 2 F328S Frizzled-4 Mutation Implicated in Familial Exudative Vitreoretinopathy Impairs Dishevelled Recruitment. ( 27096003 )
2015
39
Association of autosomal dominant familial exudative vitreoretinopathy and spinal muscular atrophy. ( 26109022 )
2015
40
Molecular Characterization of FZD4, LRP5, and TSPAN12 in Familial Exudative Vitreoretinopathy. ( 26244290 )
2015
41
KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy. ( 26472404 )
2015
42
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. ( 25711638 )
2015
43
Structure and Morphology of Radial Retinal Folds with Familial Exudative Vitreoretinopathy. ( 26477845 )
2015
44
Familial Exudative Vitreoretinopathy: Spectral-Domain Optical Coherence Tomography ofA theA Vitreoretinal Interface, Retina, and Choroid. ( 26299697 )
2015
45
Familial Exudative Vitreoretinopathy: Presentation in the First Week of Life. ( 26431558 )
2015
46
Identification and functional analysis of novel FZD4 mutations in Han Chinese with familial exudative vitreoretinopathy. ( 26530129 )
2015
47
A case of familial exudative vitreoretinopathy identified after genetic testing. ( 25828824 )
2015
48
High Prevalence of Peripheral Retinal Vascular Anomalies in Family Members ofA Patients with Familial Exudative Vitreoretinopathy. ( 24084499 )
2014
49
Familial exudative vitreoretinopathy mimicking macular telangiectasia type 1. ( 24513378 )
2014
50
Surgical Outcomes of Progressive Tractional Retinal Detachment Associated With Familial Exudative Vitreoretinopathy. ( 25127701 )
2014

Variations for Exudative Vitreoretinopathy

ClinVar genetic disease variations for Exudative Vitreoretinopathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.4488+2T> G single nucleotide variant Pathogenic rs80358322 GRCh37 Chromosome 11, 68207386: 68207386
2 FZD4 NM_012193.3(FZD4): c.1282_1285delGACA (p.Asp428Serfs) deletion Pathogenic rs80358295 GRCh37 Chromosome 11, 86662513: 86662516
3 FZD4 NM_012193.3(FZD4): c.313A> G (p.Met105Val) single nucleotide variant Pathogenic rs80358284 GRCh38 Chromosome 11, 86952443: 86952443
4 RCBTB1 NM_018191.3(RCBTB1): c.1172+1G> A single nucleotide variant Likely pathogenic rs869312819 GRCh37 Chromosome 13, 50118872: 50118872
5 TSPAN12 NM_012338.3(TSPAN12): c.225_227delCAT (p.Ile76del) deletion Likely pathogenic GRCh37 Chromosome 7, 120478889: 120478891
6 LRP5 NM_002335.3(LRP5): c.1265C> T (p.Ala422Val) single nucleotide variant Likely pathogenic rs761919591 GRCh37 Chromosome 11, 68154033: 68154033
7 LRP5 NM_002335.3(LRP5): c.3242T> G (p.Leu1081Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 68192575: 68192575

Expression for Exudative Vitreoretinopathy

Search GEO for disease gene expression data for Exudative Vitreoretinopathy.

Pathways for Exudative Vitreoretinopathy

Pathways related to Exudative Vitreoretinopathy according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 37)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.83 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
2
Show member pathways
13.3 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
3
Show member pathways
13.06 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
4
Show member pathways
12.99 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
5 12.99 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
6
Show member pathways
12.92 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
7
Show member pathways
12.77 CAMK2G FZD1 FZD4 FZD5 FZD9
8
Show member pathways
12.66 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD8
9
Show member pathways
12.66 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
10
Show member pathways
12.64 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
11
Show member pathways
12.63 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
12 12.58 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
13
Show member pathways
12.55 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
14
Show member pathways
12.51 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
15 12.47 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
16
Show member pathways
12.45 CTNNB1 FZD4 FZD5 FZD8
17 12.42 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD6
18 12.34 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
19
Show member pathways
12.3 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
20 12.28 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
21 12.26 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
22 12.22 CTNNB1 FZD5 FZD6 LRP5
23
Show member pathways
12.21 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
24 12.17 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
25
Show member pathways
12.15 FZD1 FZD4 FZD5 FZD9
26 12.13 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
27 12.11 CTNNB1 FZD4 FZD5 FZD8
28 12.05 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
29 11.81 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
30 11.73 FZD1 FZD4 FZD5 FZD9
31 11.73 CAMK2G CTNNB1 FZD1 FZD4 FZD5 FZD9
32
Show member pathways
11.49 FZD4 FZD5 FZD6 FZD8 LRP5
33 11.39 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
34 11.35 CAMK2G CTNNB1 LRP5
35 11.2 CTNNB1 FZD6 LRP5
36 11.17 CTNNB1 FZD1 FZD7 FZD8
37 10.67 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

GO Terms for Exudative Vitreoretinopathy

Cellular components related to Exudative Vitreoretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell surface GO:0009986 9.63 FZD1 FZD4 FZD5 FZD6 FZD9 NDP
2 amyloid-beta complex GO:0106003 9.26 FZD4 FZD5
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 FZD8 LRP5
4 Wnt signalosome GO:1990909 8.8 CTNNB1 FZD1 LRP5

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding transcription factor activity GO:0051091 9.92 CTNNB1 FZD1 FZD4 LRP5 NDP
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.88 FZD1 FZD4 FZD5 FZD6 FZD7
3 cell surface receptor signaling pathway GO:0007166 9.86 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
4 Wnt signaling pathway, calcium modulating pathway GO:0007223 9.8 CTNNB1 FZD4 FZD5 FZD6
5 neuron differentiation GO:0030182 9.8 CTNNB1 FZD1 FZD4 FZD5 FZD7 FZD8
6 T cell differentiation in thymus GO:0033077 9.76 CTNNB1 FZD5 FZD7 FZD8
7 positive regulation of JUN kinase activity GO:0043507 9.72 FZD4 FZD5 FZD8
8 vasculature development GO:0001944 9.71 CTNNB1 FZD5 LRP5
9 retina vasculature morphogenesis in camera-type eye GO:0061299 9.69 FZD4 LRP5 NDP
10 beta-catenin destruction complex disassembly GO:1904886 9.67 CTNNB1 FZD1 FZD5 LRP5
11 Wnt signaling pathway GO:0016055 9.65 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
12 non-canonical Wnt signaling pathway GO:0035567 9.63 FZD1 FZD5 FZD6 FZD7 FZD8 FZD9
13 gastrulation with mouth forming second GO:0001702 9.62 CTNNB1 LRP5
14 negative regulation of cell-substrate adhesion GO:0010812 9.62 FZD4 FZD7
15 negative regulation of oxidative stress-induced neuron death GO:1903204 9.61 CTNNB1 FZD1
16 embryonic axis specification GO:0000578 9.58 CTNNB1 FZD5
17 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.58 FZD5 LRP5
18 extracellular matrix-cell signaling GO:0035426 9.58 FZD4 LRP5 NDP
19 retinal blood vessel morphogenesis GO:0061304 9.56 FZD4 LRP5
20 canonical Wnt signaling pathway GO:0060070 9.28 CTNNB1 FZD1 FZD4 FZD5 FZD7 FZD8
21 signal transduction GO:0007165 10.24 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD7
22 G-protein coupled receptor signaling pathway GO:0007186 10.14 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
23 multicellular organism development GO:0007275 10.13 ATOH7 CAMK2G FZD1 FZD4 FZD5 FZD6
24 positive regulation of transcription, DNA-templated GO:0045893 10.04 CTNNB1 FZD1 FZD4 FZD7 LRP5 NDP
25 nervous system development GO:0007399 10.01 ATOH7 CAMK2G CTNNB1 FZD9 NDP

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

# Name GO ID Score Top Affiliating Genes
1 G-protein coupled receptor activity GO:0004930 9.91 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
2 signal transducer activity GO:0004871 9.8 CTNNB1 FZD1 FZD4 FZD5 FZD6 FZD8
3 ubiquitin protein ligase binding GO:0031625 9.76 FZD4 FZD5 FZD6 FZD8
4 transmembrane signaling receptor activity GO:0004888 9.7 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
5 PDZ domain binding GO:0030165 9.62 FZD1 FZD4 FZD7 FZD8
6 amyloid-beta binding GO:0001540 9.61 FZD4 FZD5 FZD6
7 Wnt-activated receptor activity GO:0042813 9.61 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8
8 frizzled binding GO:0005109 9.58 FZD1 FZD7 NDP
9 Wnt-protein binding GO:0017147 9.23 FZD1 FZD4 FZD5 FZD6 FZD7 FZD8

Sources for Exudative Vitreoretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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