MCID: PRG049

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 malady

Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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47OMIM, 33MalaCards
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MalaCards: Progressive External Ophthalmoplegia, Autosomal Dominant, 3 An important gene associated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3 is C10orf2 (chromosome 10 open reading frame 2). Affiliated tissues include skeletal muscle.

Description from OMIM:47 609286

Aliases & Classifications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
47OMIM
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Aliases & Descriptions:

progressive external ophthalmoplegia, autosomal dominant, 3 47


Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Diseases in the autosomal dominant progressive external ophthalmoplegia family:

autosomal recessive progressive external ophthalmoplegia progressive external ophthalmoplegia, autosomal dominant, 3

Clinical Features for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
47OMIM
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Clinical features from OMIM:

609286

Clinical synopsis from OMIM:

609286

Drugs & Therapeutics for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Drug clinical trials:

Search ClinicalTrials for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Search NIH Clinical Center for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Search CenterWatch for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Genetic Tests for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
33MalaCards
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MalaCards organs/tissues related to Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

33
Skeletal muscle

Animal Models for Progressive External Ophthalmoplegia, Autosomal Dominant, 3 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Genetic Variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

63 (show all 84)
id Symbol AA change Variation SNP ID
1C10orf2p.Arg303TrpVAR_023647
2C10orf2p.Arg303TrpVAR_023647
3C10orf2p.Arg303TrpVAR_023647
4C10orf2p.Trp315LeuVAR_023648
5C10orf2p.Trp315LeuVAR_023648
6C10orf2p.Trp315LeuVAR_023648
7C10orf2p.Lys319ThrVAR_023650
8C10orf2p.Lys319ThrVAR_023650
9C10orf2p.Lys319ThrVAR_023650
10C10orf2p.Pro335LeuVAR_023652
11C10orf2p.Pro335LeuVAR_023652
12C10orf2p.Pro335LeuVAR_023652
13C10orf2p.Arg354ProVAR_023653
14C10orf2p.Arg354ProVAR_023653
15C10orf2p.Arg354ProVAR_023653
16C10orf2p.Ala359ThrVAR_023654
17C10orf2p.Ala359ThrVAR_023654
18C10orf2p.Ala359ThrVAR_023654
19C10orf2p.Ile367ThrVAR_023655
20C10orf2p.Ile367ThrVAR_023655
21C10orf2p.Ile367ThrVAR_023655
22C10orf2p.Ser369ProVAR_023657
23C10orf2p.Ser369ProVAR_023657
24C10orf2p.Ser369ProVAR_023657
25C10orf2p.Ser369TyrVAR_023658
26C10orf2p.Ser369TyrVAR_023658
27C10orf2p.Ser369TyrVAR_023658
28C10orf2p.Arg374GlnVAR_023659
29C10orf2p.Arg374GlnVAR_023659
30C10orf2p.Arg374GlnVAR_023659
31C10orf2p.Leu381ProVAR_023660
32C10orf2p.Leu381ProVAR_023660
33C10orf2p.Leu381ProVAR_023660
34C10orf2p.Trp474CysVAR_023661
35C10orf2p.Trp474CysVAR_023661
36C10orf2p.Trp474CysVAR_023661
37C10orf2p.Ala475ProVAR_023662
38C10orf2p.Ala475ProVAR_023662
39C10orf2p.Ala475ProVAR_023662
40C10orf2p.Arg303GlnVAR_065102
41C10orf2p.Arg303GlnVAR_065102
42C10orf2p.Arg303GlnVAR_065102
43C10orf2p.Trp315SerVAR_065103
44C10orf2p.Trp315SerVAR_065103
45C10orf2p.Trp315SerVAR_065103
46C10orf2p.Arg334ProVAR_065105
47C10orf2p.Arg334ProVAR_065105
48C10orf2p.Arg334ProVAR_065105
49C10orf2p.Arg357ProVAR_065106
50C10orf2p.Arg357ProVAR_065106
51C10orf2p.Arg357ProVAR_065106
52C10orf2p.Ala362ProVAR_065108
53C10orf2p.Ala362ProVAR_065108
54C10orf2p.Ala362ProVAR_065108
55C10orf2p.Trp363LeuVAR_065109
56C10orf2p.Trp363LeuVAR_065109
57C10orf2p.Trp363LeuVAR_065109
58C10orf2p.Phe370CysVAR_065110
59C10orf2p.Phe370CysVAR_065110
60C10orf2p.Phe370CysVAR_065110
61C10orf2p.Phe370LeuVAR_065111
62C10orf2p.Phe370LeuVAR_065111
63C10orf2p.Phe370LeuVAR_065111
64C10orf2p.Ser426AsnVAR_065112
65C10orf2p.Ser426AsnVAR_065112
66C10orf2p.Ser426AsnVAR_065112
67C10orf2p.Gln458HisVAR_065113
68C10orf2p.Gln458HisVAR_065113
69C10orf2p.Gln458HisVAR_065113
70C10orf2p.Ala460ProVAR_065114
71C10orf2p.Ala460ProVAR_065114
72C10orf2p.Ala460ProVAR_065114
73C10orf2p.Trp474SerVAR_065115
74C10orf2p.Trp474SerVAR_065115
75C10orf2p.Trp474SerVAR_065115
76C10orf2p.Ala475AspVAR_065116
77C10orf2p.Ala475AspVAR_065116
78C10orf2p.Ala475AspVAR_065116
79C10orf2p.Phe478IleVAR_065117
80C10orf2p.Phe478IleVAR_065117
81C10orf2p.Phe478IleVAR_065117
82C10orf2p.Glu479LysVAR_065118
83C10orf2p.Glu479LysVAR_065118
84C10orf2p.Glu479LysVAR_065118

Expression for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia, Autosomal Dominant, 3.

Pathways for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Compounds for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

GO Terms for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

Products for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant, 3

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet