MCID: MCL029

Macular Degeneration, X-Linked Atrophic malady

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Summaries for Macular Degeneration, X-Linked Atrophic

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MalaCards based summary: Macular Degeneration, X-Linked Atrophic and has symptoms including An important gene associated with Macular Degeneration, X-Linked Atrophic is RPGR (retinitis pigmentosa GTPase regulator).

Description from OMIM:46 300834

Aliases & Classifications for Macular Degeneration, X-Linked Atrophic

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Macular Degeneration, X-Linked Atrophic, Aliases & Descriptions:

Name: Macular Degeneration, X-Linked Atrophic 46


Related Diseases for Macular Degeneration, X-Linked Atrophic

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Symptoms for Macular Degeneration, X-Linked Atrophic

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Clinical features from OMIM:

300834

HPO human phenotypes related to Macular Degeneration, X-Linked Atrophic:

id Description Frequency HPO Source Accession
1 macular degeneration HP:0000608
2 x-linked recessive inheritance HP:0001419
3 decreased central vision HP:0007663

Drugs & Therapeutics for Macular Degeneration, X-Linked Atrophic

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Drug clinical trials:

Search ClinicalTrials for Macular Degeneration, X-Linked Atrophic

Search NIH Clinical Center for Macular Degeneration, X-Linked Atrophic

Genetic Tests for Macular Degeneration, X-Linked Atrophic

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Anatomical Context for Macular Degeneration, X-Linked Atrophic

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Animal Models for Macular Degeneration, X-Linked Atrophic or affiliated genes

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Publications for Macular Degeneration, X-Linked Atrophic

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Variations for Macular Degeneration, X-Linked Atrophic

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Clinvar genetic disease variations for Macular Degeneration, X-Linked Atrophic:

6
id Gene Name Type Significance SNP ID Assembly Location
1RPGRRPGR, IVS15, G-T, +1164single nucleotide variantPathogenic

Expression for genes affiliated with Macular Degeneration, X-Linked Atrophic

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Expression patterns in normal tissues for genes affiliated with Macular Degeneration, X-Linked Atrophic

Search GEO for disease gene expression data for Macular Degeneration, X-Linked Atrophic.

Pathways for genes affiliated with Macular Degeneration, X-Linked Atrophic

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Compounds for genes affiliated with Macular Degeneration, X-Linked Atrophic

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GO Terms for genes affiliated with Macular Degeneration, X-Linked Atrophic

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Products for genes affiliated with Macular Degeneration, X-Linked Atrophic

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  • Antibodies
  • Proteins
  • Lysates

Sources for Macular Degeneration, X-Linked Atrophic

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet