MCID: THR065

Thrombocytopenia, X-Linked, Intermittent malady

Blood diseases category

Summaries for Thrombocytopenia, X-Linked, Intermittent

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46OMIM, 32MalaCards
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MalaCards: Thrombocytopenia, X-Linked, Intermittent An important gene associated with Thrombocytopenia, X-Linked, Intermittent is WAS (Wiskott-Aldrich syndrome).

Description from OMIM:46 313900

Aliases & Classifications for Thrombocytopenia, X-Linked, Intermittent

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46OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

thrombocytopenia, x-linked, intermittent 46


Related Diseases for Thrombocytopenia, X-Linked, Intermittent

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Clinical Features for Thrombocytopenia, X-Linked, Intermittent

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46OMIM
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Clinical features from OMIM:

313900

Drugs & Therapeutics for Thrombocytopenia, X-Linked, Intermittent

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Thrombocytopenia, X-Linked, Intermittent

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Anatomical Context for Thrombocytopenia, X-Linked, Intermittent

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Animal Models for Thrombocytopenia, X-Linked, Intermittent or affiliated genes

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Publications for Thrombocytopenia, X-Linked, Intermittent

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Genetic Variations for Thrombocytopenia, X-Linked, Intermittent

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Thrombocytopenia, X-Linked, Intermittent:

62
id Symbol AA change Variation ID SNP ID
1WASp.Leu27PheVAR_005823
2WASp.Thr48IleVAR_005826
3WASp.Ala56ValVAR_005827
4WASp.Val75MetVAR_005828
5WASp.Ala236GluVAR_005837
6WASp.Arg477LysVAR_005839
7WASp.Thr45MetVAR_008106
8WASp.Tyr83CysVAR_008108
9WASp.Pro58ArgVAR_033255rs28935178
10WASp.Ile481AsnVAR_033257

Expression for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Pathways for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Compounds for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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GO Terms for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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Products for genes affiliated with Thrombocytopenia, X-Linked, Intermittent

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombocytopenia, X-Linked, Intermittent

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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