MCID: EYD001
MIFTS: 20

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
ICD10 33 H44.30 H44.5
UMLS 73 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 are Metabolism of fat-soluble vitamins and Endochondral Ossification. Affiliated tissues include eye, and related phenotype is vision/eye.

Related Diseases for Eye Degenerative Disease

Diseases related to Eye Degenerative Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
# Related Disease Score Top Affiliating Genes
1 leber congenital amaurosis 1 10.5 GUCA1A GUCY2D
2 retinal perforation 10.4 COL2A1 KCNJ13
3 cone-rod dystrophy 6 10.4 GUCA1A GUCY2D
4 vitreous syneresis 10.4 COL2A1 KCNJ13
5 peripheral retinal degeneration 10.4 COL2A1 PRPH2
6 vitreoretinal dystrophy 10.4 COL2A1 KCNJ13
7 vitreoretinal degeneration 10.3 COL2A1 KCNJ13
8 prolonged electroretinal response suppression 10.2 GUCY2D PRPH2
9 vitreous disease 10.2 KCNJ13 VEGFA
10 yemenite deaf-blind hypopigmentation syndrome 10.2 GUCY2D VEGFA
11 hereditary choroidal atrophy 10.2 GUCA1A GUCY2D PRPH2
12 partial central choroid dystrophy 10.1 GUCA1A GUCY2D PRPH2
13 cone-rod dystrophy 2 10.1 GUCA1A GUCY2D PRPH2
14 retinal disease 10.1 GUCA1A GUCY2D PRPH2
15 degenerative myopia 10.1 VEGFA ZNF644
16 retinal degeneration 10.1 GUCA1A GUCY2D PRPH2
17 ischemic bone disease 10.0 COL2A1 VEGFA
18 osteonecrosis 9.9 COL2A1 VEGFA
19 retinal telangiectasia 9.7 FZD4 VEGFA
20 choroidal dystrophy, central areolar, 1 9.7 CYP4V2 GUCA1A GUCY2D PRPH2
21 fundus dystrophy 9.7 CYP4V2 GUCA1A GUCY2D PRPH2
22 leukocoria 9.6 EFHC2 FZD4
23 coats disease 9.6 FZD4 VEGFA
24 retinal vascular disease 9.3 FZD4 VEGFA
25 myopia 9.3 COL2A1 VEGFA ZNF644
26 leber congenital amaurosis 9.3 CYP4V2 GUCA1A GUCY2D KCNJ13 PRPH2
27 norrie disease 9.1 EFHC2 FZD4
28 exudative vitreoretinopathy 1 9.0 FZD4 VEGFA
29 retinal detachment 8.9 COL2A1 FZD4 KCNJ13 VEGFA

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:

46
# 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:

41
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
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 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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