MCID: PRG039

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

Genetic diseases (common) category
Download this MalaCard

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

About this section


Fully expand this MalaCard
MalaCards based summary: 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...

About this section

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, Aliases & Descriptions:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 20 22


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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

About this section

Symptoms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

About this section

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

About this section

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...

About this section

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...

About this section

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

About this section

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

About this section

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

About this section

Clinvar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

6
id Gene Name Type Significance SNP ID Assembly Location
1C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922

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

About this section
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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

About this section
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