MCID: PRG049
MIFTS: 16

Progressive External Ophthalmoplegia, Autosomal Dominant, 3 malady

Genetic diseases, Rare diseases categories

Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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48OMIM, 34MalaCards
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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 eye and skeletal muscle.

Description from OMIM:48 609286

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

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Sources:
48OMIM
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Classifications:

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


Aliases & Descriptions:

progressive external ophthalmoplegia, autosomal dominant, 3 48


Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Diseases in the Autosomal Dominant Progressive External Ophthalmoplegia family:

Autosomal Recessive Progressive External Ophthalmoplegia progressive external ophthalmoplegia, autosomal dominant, 3

Symptoms for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

609286

Clinical features from OMIM:

609286

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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

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Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Sources:
34MalaCards
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MalaCards organs/tissues related to Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

34
Eye, Skeletal muscle

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

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Publications for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Dominant, 3:

65 (show all 84)
id Symbol AA change Variation ID 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

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Sources:
2BioGPS, 16Gene 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

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

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Progressive External Ophthalmoplegia, Autosomal Dominant, 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet