MCID: EXS005

Exostoses, Multiple, Type 2 malady

Summaries for Exostoses, Multiple, Type 2

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47OMIM, 33MalaCards
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MalaCards: Exostoses, Multiple, Type 2 An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (exostosin glycosyltransferase 2).

Description from OMIM:47 133701

Aliases & Classifications for Exostoses, Multiple, Type 2

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43NIH Rare Diseases, 47OMIM
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Aliases & Descriptions:

exostoses, multiple, type 2 43 47


Related Diseases for Exostoses, Multiple, Type 2

Diseases in the exostoses, multiple, type 1 family:

exostoses, multiple, type 2 exostoses, multiple, type 3

Clinical Features for Exostoses, Multiple, Type 2

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47OMIM
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Clinical features from OMIM:

133701

Clinical synopsis from OMIM:

133701

Drugs & Therapeutics for Exostoses, Multiple, Type 2

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

Search CenterWatch for Exostoses, Multiple, Type 2

Drug clinical trials:

Search ClinicalTrials for Exostoses, Multiple, Type 2

Search NIH Clinical Center for Exostoses, Multiple, Type 2

Search CenterWatch for Exostoses, Multiple, Type 2

Genetic Tests for Exostoses, Multiple, Type 2

Anatomical Context for Exostoses, Multiple, Type 2

Animal Models for Exostoses, Multiple, Type 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Exostoses, Multiple, Type 2

Genetic Variations for Exostoses, Multiple, Type 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Exostoses, Multiple, Type 2:

63
id Symbol AA change Variation SNP ID
1EXT2p.Asp227AsnVAR_002378
2EXT2p.Cys85ArgVAR_012823
3EXT2p.Leu152ArgVAR_012824
4EXT2p.Arg179SerVAR_012825
5EXT2p.Ala202ValVAR_012826
6EXT2p.Arg223ProVAR_012827
7EXT2p.Ile380ThrVAR_012828

Expression for genes affiliated with Exostoses, Multiple, Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Exostoses, Multiple, Type 2

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Pathways for genes affiliated with Exostoses, Multiple, Type 2

Compounds for genes affiliated with Exostoses, Multiple, Type 2

GO Terms for genes affiliated with Exostoses, Multiple, Type 2

Products for genes affiliated with Exostoses, Multiple, Type 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exostoses, Multiple, Type 2

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