MCID: MCL065
MIFTS: 14

Macular Degeneration, Age-Related, 15

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 15

MalaCards integrated aliases for Macular Degeneration, Age-Related, 15:

Name: Macular Degeneration, Age-Related, 15 57 75 29 6 73
Armd15 57 12 75
Macular Degeneration, Age-Related, 15, Susceptibility to 57
Macular Degeneration, Age-Related, Type 15 40
Age Related Macular Degeneration 15 12

Classifications:



External Ids:

OMIM 57 615591
Disease Ontology 12 DOID:0110027
MeSH 44 D008268
UMLS 73 C3810042

Summaries for Macular Degeneration, Age-Related, 15

UniProtKB/Swiss-Prot : 75 Macular degeneration, age-related, 15: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

MalaCards based summary : Macular Degeneration, Age-Related, 15, is also known as armd15. An important gene associated with Macular Degeneration, Age-Related, 15 is C9 (Complement C9). Affiliated tissues include eye.

Disease Ontology : 12 An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13.

Description from OMIM: 615591

Related Diseases for Macular Degeneration, Age-Related, 15

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 15

Clinical features from OMIM:

615591

Drugs & Therapeutics for Macular Degeneration, Age-Related, 15

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 15

Genetic Tests for Macular Degeneration, Age-Related, 15

Genetic tests related to Macular Degeneration, Age-Related, 15:

# Genetic test Affiliating Genes
1 Macular Degeneration, Age-Related, 15 29 C9

Anatomical Context for Macular Degeneration, Age-Related, 15

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 15:

41
Eye

Publications for Macular Degeneration, Age-Related, 15

Variations for Macular Degeneration, Age-Related, 15

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 15:

75
# Symbol AA change Variation ID SNP ID
1 C9 p.Pro167Ser VAR_070940 rs34882957

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 15:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 C9 NM_001737.4(C9): c.499C> T (p.Pro167Ser) single nucleotide variant risk factor rs34882957 GRCh37 Chromosome 5, 39331894: 39331894
2 C9 NM_001737.4(C9): c.499C> T (p.Pro167Ser) single nucleotide variant risk factor rs34882957 GRCh38 Chromosome 5, 39331792: 39331792

Expression for Macular Degeneration, Age-Related, 15

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 15.

Pathways for Macular Degeneration, Age-Related, 15

GO Terms for Macular Degeneration, Age-Related, 15

Sources for Macular Degeneration, Age-Related, 15

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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