MCID: CHR077
MIFTS: 30

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
ICD10 33 H31.0 H31.00
ICD9CM 35 363.3 363.30
SNOMED-CT 68 53854005
UMLS 73 C0008512

Summaries for Chorioretinal Scar

MalaCards based summary : Chorioretinal Scar is related to hypomagnesemia 5, renal, with or without ocular involvement and pseudobulbar palsy. An important gene associated with Chorioretinal Scar is JMJD6 (Jumonji Domain Containing 6, Arginine Demethylase And Lysine Hydroxylase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Gastric cancer. Affiliated tissues include eye, lung and t cells, and related phenotypes are homeostasis/metabolism and cardiovascular 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.02 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3 NOTCH4
2 cardiovascular system MP:0005385 9.98 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3 NOTCH4
3 endocrine/exocrine gland MP:0005379 9.88 FANCG FASLG JMJD6 NOTCH1 NOTCH3 TERT
4 nervous system MP:0003631 9.86 ATXN7 FASLG JMJD6 NOTCH1 NOTCH3 NOTCH4
5 integument MP:0010771 9.8 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3 PLIN1
6 renal/urinary system MP:0005367 9.55 ABCC6 FASLG JMJD6 NOTCH1 NOTCH3
7 respiratory system MP:0005388 9.35 FASLG JMJD6 NOTCH1 NOTCH3 TERT
8 vision/eye MP:0005391 9.23 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:

41
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

GO Terms for Chorioretinal Scar

Cellular components related to Chorioretinal Scar according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.7 ATXN7 FANCG JMJD6 NOTCH1 NOTCH3 NOTCH4
2 plasma membrane GO:0005886 9.28 ABCC6 FANCG FASLG JMJD6 NOTCH1 NOTCH3
3 Golgi membrane GO:0000139 9.26 NOTCH1 NOTCH3 NOTCH4 RHO

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

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.63 ABCC6 ATXN7 RHO
2 transcription initiation from RNA polymerase II promoter GO:0006367 9.54 NOTCH1 NOTCH3 NOTCH4
3 Notch signaling pathway GO:0007219 9.5 NOTCH1 NOTCH3 NOTCH4
4 positive regulation of Notch signaling pathway GO:0045747 9.48 NOTCH1 NOTCH4
5 sprouting angiogenesis GO:0002040 9.43 JMJD6 NOTCH1
6 neuron fate commitment GO:0048663 9.4 NOTCH1 NOTCH3
7 negative regulation of cell differentiation GO:0045596 9.33 NOTCH1 NOTCH3 NOTCH4
8 negative regulation of glial cell proliferation GO:0060253 9.26 NOTCH1 TERT
9 positive regulation of transcription of Notch receptor target GO:0007221 9.13 NOTCH1 NOTCH3 NOTCH4
10 regulation of developmental process GO:0050793 8.8 NOTCH1 NOTCH3 NOTCH4

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 8.92 JMJD6 NOTCH1 NOTCH3 NOTCH4

Sources for Chorioretinal Scar

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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