MCID: EXS005
MIFTS: 11

Exostoses, Multiple, Type 2 malady

Summaries for Exostoses, Multiple, Type 2

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46OMIM, 32MalaCards
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MalaCards: Exostoses, Multiple, Type 2 An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (exostosin glycosyltransferase 2). Affiliated tissues include bone.

Description from OMIM:46 133701

Aliases & Classifications for Exostoses, Multiple, Type 2

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42NIH Rare Diseases, 46OMIM
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Aliases & Descriptions:

exostoses, multiple, type 2 42 46


Related Diseases for Exostoses, Multiple, Type 2

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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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46OMIM
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Clinical features from OMIM:

133701

Clinical synopsis from OMIM:

133701

Drugs & Therapeutics for Exostoses, Multiple, Type 2

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Exostoses, Multiple, Type 2

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32MalaCards
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MalaCards organs/tissues related to Exostoses, Multiple, Type 2:

32
Bone

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

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Publications for Exostoses, Multiple, Type 2

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Genetic Variations for Exostoses, Multiple, Type 2

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Exostoses, Multiple, Type 2:

62
id Symbol AA change Variation ID 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

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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

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Compounds for genes affiliated with Exostoses, Multiple, Type 2

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

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Products for genes affiliated with Exostoses, Multiple, Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Exostoses, Multiple, Type 2

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet