MCID: EXD012
MIFTS: 11

Exudative Vitreoretinopathy 7

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

Aliases & Classifications for Exudative Vitreoretinopathy 7

MalaCards integrated aliases for Exudative Vitreoretinopathy 7:

Name: Exudative Vitreoretinopathy 7 54

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant


Classifications:



External Ids:

OMIM 54 617572

Summaries for Exudative Vitreoretinopathy 7

MalaCards based summary : Exudative Vitreoretinopathy 7 An important gene associated with Exudative Vitreoretinopathy 7 is CTNNB1 (Catenin Beta 1).

Description from OMIM: 617572

Related Diseases for Exudative Vitreoretinopathy 7

Symptoms & Phenotypes for Exudative Vitreoretinopathy 7

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
retinal scarring
tractional folds
focal retinal degeneration
retinal detachments
retinal holes
more

Clinical features from OMIM:

617572

Drugs & Therapeutics for Exudative Vitreoretinopathy 7

Search Clinical Trials , NIH Clinical Center for Exudative Vitreoretinopathy 7

Genetic Tests for Exudative Vitreoretinopathy 7

Anatomical Context for Exudative Vitreoretinopathy 7

Publications for Exudative Vitreoretinopathy 7

Variations for Exudative Vitreoretinopathy 7

ClinVar genetic disease variations for Exudative Vitreoretinopathy 7:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CTNNB1 NM_001904.3(CTNNB1): c.2128C> T (p.Arg710Cys) single nucleotide variant Pathogenic rs748653573 GRCh37 Chromosome 3, 41279558: 41279558
2 CTNNB1 NM_001904.3(CTNNB1): c.2142_2157dup16 (p.His720Terfs) duplication Pathogenic rs1057519380 GRCh37 Chromosome 3, 41280629: 41280644

Expression for Exudative Vitreoretinopathy 7

Search GEO for disease gene expression data for Exudative Vitreoretinopathy 7.

Pathways for Exudative Vitreoretinopathy 7

GO Terms for Exudative Vitreoretinopathy 7

Sources for Exudative Vitreoretinopathy 7

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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