MCID: EYD001
MIFTS: 19

Eye Degenerative Disease

Categories: Eye diseases

Aliases & Classifications for Eye Degenerative Disease

MalaCards integrated aliases for Eye Degenerative Disease:

Name: Eye Degenerative Disease 12 14

Classifications:



External Ids:

Disease Ontology 12 DOID:9799
ICD10 32 H44.30 H44.5
UMLS 69 C0154777

Summaries for Eye Degenerative Disease

MalaCards based summary : Eye Degenerative Disease is related to leber congenital amaurosis 1 and retinal perforation. An important gene associated with Eye Degenerative Disease is KCNJ13 (Potassium Voltage-Gated Channel Subfamily J Member 13), and among its related pathways/superpathways is Metabolism of fat-soluble vitamins. Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Eye Degenerative Disease

Graphical network of the top 20 diseases related to Eye Degenerative Disease:



Diseases related to Eye Degenerative Disease

Symptoms & Phenotypes for Eye Degenerative Disease

MGI Mouse Phenotypes related to Eye Degenerative Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.17 COL2A1 CYP4V2 FZD4 GUCA1A GUCY2D PRPH2

Drugs & Therapeutics for Eye Degenerative Disease

Search Clinical Trials , NIH Clinical Center for Eye Degenerative Disease

Genetic Tests for Eye Degenerative Disease

Anatomical Context for Eye Degenerative Disease

MalaCards organs/tissues related to Eye Degenerative Disease:

38
Eye

Publications for Eye Degenerative Disease

Variations for Eye Degenerative Disease

Expression for Eye Degenerative Disease

Search GEO for disease gene expression data for Eye Degenerative Disease.

Pathways for Eye Degenerative Disease

Pathways related to Eye Degenerative Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.13 CYP4V2 GUCA1A GUCY2D

GO Terms for Eye Degenerative Disease

Cellular components related to Eye Degenerative Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor disc membrane GO:0097381 8.62 GUCA1A GUCY2D

Biological processes related to Eye Degenerative Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.46 CYP4V2 GUCA1A GUCY2D SPATA7
2 visual perception GO:0007601 9.1 COL2A1 CYP4V2 GUCA1A GUCY2D PRPH2 SPATA7
3 regulation of rhodopsin mediated signaling pathway GO:0022400 8.96 GUCA1A GUCY2D

Sources for Eye Degenerative Disease

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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