MCID: PRG039
MIFTS: 10

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 malady

Genetic diseases (common) category
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Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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MalaCards: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is C10orf2 (chromosome 10 open reading frame 2).

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Classifications:

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Global: Genetic diseases (common)


Aliases & Descriptions:

progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 20 22
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3 62


Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Symptoms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Search NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 320 C10orf2
2 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 322

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Animal Models for Progressive External Ophthalmoplegia with Mitochondrial Dna... or affiliated genes

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Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

1
id Gene Name Type Significance SNP ID Assembly Location
1C10orf2NM_021830.4(C10orf2): c.1423G> C (p.Ala475Pro)single nucleotide variantPathogenicrs111033572GRCh37Chr 10, 102749580: 102749580
2C10orf2NM_021830.4(C10orf2): c.1075G> A (p.Ala359Thr)single nucleotide variantPathogenicrs111033573GRCh37Chr 10, 102749042: 102749042
3C10orf2NM_021830.4(C10orf2): c.1422G> A (p.Trp474Ter)single nucleotide variantPathogenicrs111033574GRCh37Chr 10, 102749579: 102749579
4C10orf2NM_021830.4(C10orf2): c.944G> T (p.Trp315Leu)single nucleotide variantPathogenicrs111033575GRCh37Chr 10, 102748911: 102748911
5C10orf2NM_021830.4(C10orf2): c.1061G> C (p.Arg354Pro)single nucleotide variantPathogenicrs111033576GRCh37Chr 10, 102749028: 102749028
6C10orf2NM_021830.4(C10orf2): c.1142T> C (p.Leu381Pro)single nucleotide variantPathogenicrs111033577GRCh37Chr 10, 102749109: 102749109
7C10orf2NM_021830.4(C10orf2): c.1106C> A (p.Ser369Tyr)single nucleotide variantPathogenicrs111033579GRCh37Chr 10, 102749073: 102749073
8C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922
9C10orf2NM_021830.4(C10orf2): c.908G> A (p.Arg303Gln)single nucleotide variantPathogenicrs137852956GRCh37Chr 10, 102748875: 102748875
10C10orf2NM_021830.4(C10orf2): c.1120C> T (p.Arg374Trp)single nucleotide variantPathogenicrs267606682GRCh37Chr 10, 102749087: 102749087

Expression for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3.

Pathways for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Compounds for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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GO Terms for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Products for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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  • Antibodies
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Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet