Autosomal Dominant Macrothrombocytopenia

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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Macrothrombocytopenia is related to qualitative platelet defect and bernard-soulier syndrome, type a2, autosomal dominant. An important gene associated with Autosomal Dominant Macrothrombocytopenia is TUBB1 (Tubulin Beta 1 Class VI), and among its related pathways/superpathways are Infectious disease and Signal Transduction. Affiliated tissues include neutrophil and myeloid.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
10
66
--

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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