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MIRAGE
autosomal dominant isolated macrothrombocytopenia 1

Summary
Synonym
  • MACTHC1
Definition
A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3.
Super Class
autosomal dominant disease thrombocytopenia
Disease Ontology
DOID:0090102
Mondo Disease Ontology
ORDO
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
81027 TUBB1 tubulin beta 1 class VI
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q9H4B7 Tubulin beta-1 chain
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025