MCID: EYD001
MIFTS: 21

Eye Degenerative Disease

Categories: Eye diseases

Aliases & Classifications for Eye Degenerative Disease

MalaCards integrated aliases for Eye Degenerative Disease:

Name: Eye Degenerative Disease 12 15

Classifications:



External Ids:

Disease Ontology 12 DOID:9799
SNOMED-CT 69 62585004
ICD10 34 H44.30 H44.5
UMLS 74 C0154777

Summaries for Eye Degenerative Disease

MalaCards based summary : Eye Degenerative Disease is related to peripheral retinal degeneration and bietti crystalline corneoretinal dystrophy. An important gene associated with Eye Degenerative Disease is PRPH2 (Peripherin 2), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Endochondral Ossification. Affiliated tissues include eye and bone, and related phenotypes are nervous system and 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.5 COL2A1 ESCO2 FZD4 GUCA1A GUCY2D PRPH2
2 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:

42
Eye, Bone

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
2 10.77 COL2A1 VEGFA

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 vasculogenesis GO:0001570 9.26 FZD4 VEGFA
2 heart morphogenesis GO:0003007 9.16 COL2A1 VEGFA
3 visual perception GO:0007601 9.02 COL2A1 CYP4V2 GUCA1A GUCY2D PRPH2
4 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
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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