MCID: CHR077
MIFTS: 27

Chorioretinal Scar

Categories: Eye diseases

Aliases & Classifications for Chorioretinal Scar

MalaCards integrated aliases for Chorioretinal Scar:

Name: Chorioretinal Scar 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:11086
ICD9CM 36 363.3 363.30
SNOMED-CT 69 53854005
ICD10 34 H31.0 H31.00
UMLS 74 C0008512

Summaries for Chorioretinal Scar

MalaCards based summary : Chorioretinal Scar is related to hypomagnesemia 5, renal, with or without ocular involvement and retinoblastoma. An important gene associated with Chorioretinal Scar is GMDS (GDP-Mannose 4,6-Dehydratase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include eye, lung and t cells, and related phenotypes are homeostasis/metabolism and hematopoietic system

Related Diseases for Chorioretinal Scar

Graphical network of the top 20 diseases related to Chorioretinal Scar:



Diseases related to Chorioretinal Scar

Symptoms & Phenotypes for Chorioretinal Scar

MGI Mouse Phenotypes related to Chorioretinal Scar:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 ABCC6 FASLG GMDS JMJD6 NOTCH1 NOTCH3
2 hematopoietic system MP:0005397 9.95 FASLG GMDS JMJD6 NOTCH1 NOTCH3 RHO
3 endocrine/exocrine gland MP:0005379 9.91 FANCG FASLG JMJD6 NOTCH1 NOTCH3 TERT
4 integument MP:0010771 9.8 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3 PLIN1
5 renal/urinary system MP:0005367 9.65 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3
6 respiratory system MP:0005388 9.55 FASLG JMJD6 NOTCH1 NOTCH3 TERT
7 skeleton MP:0005390 9.43 ATXN7 FASLG GMDS NOTCH1 NOTCH3 TERT
8 vision/eye MP:0005391 9.17 ABCC6 ATXN7 FASLG JMJD6 NOTCH1 NOTCH3

Drugs & Therapeutics for Chorioretinal Scar

Search Clinical Trials , NIH Clinical Center for Chorioretinal Scar

Genetic Tests for Chorioretinal Scar

Anatomical Context for Chorioretinal Scar

MalaCards organs/tissues related to Chorioretinal Scar:

42
Eye, Lung, T Cells

Publications for Chorioretinal Scar

Articles related to Chorioretinal Scar:

# Title Authors Year
1
Atrophic chorioretinal scar and focal scleral bowing following thermochemotherapy with a diode laser for retinoblastoma. ( 16543200 )
2006
2
Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization secondary to toxoplasmic chorioretinal scar. ( 15162283 )
2004
3
Chorioretinal scar growth after 810-nanometer laser treatment for retinoblastoma. ( 15121379 )
2004
4
Tears of the retinal pigment epithelium. Occurrence in retinal detachments and a chorioretinal scar. ( 6463397 )
1984

Variations for Chorioretinal Scar

Expression for Chorioretinal Scar

Search GEO for disease gene expression data for Chorioretinal Scar.

Pathways for Chorioretinal Scar

Pathways related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.29 FASLG NOTCH1 NOTCH3 TERT
2 11.98 FASLG NOTCH1 NOTCH3 TERT
3 10.05 NOTCH1 NOTCH3

GO Terms for Chorioretinal Scar

Biological processes related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.58 ABCC6 ATXN7 RHO
2 sprouting angiogenesis GO:0002040 9.37 JMJD6 NOTCH1
3 Notch signaling pathway GO:0007219 9.33 GMDS NOTCH1 NOTCH3
4 neuron fate commitment GO:0048663 9.32 NOTCH1 NOTCH3
5 positive regulation of transcription of Notch receptor target GO:0007221 9.26 NOTCH1 NOTCH3
6 negative regulation of glial cell proliferation GO:0060253 8.96 NOTCH1 TERT
7 regulation of developmental process GO:0050793 8.62 NOTCH1 NOTCH3

Molecular functions related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor activity GO:0038023 8.8 JMJD6 NOTCH1 NOTCH3

Sources for Chorioretinal Scar

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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