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Standards Ontologies Notations
Guidelines
MIRAGE
X-linked dyskeratosis congenita

Summary
Synonym
  • DKCX
  • Zinsser-Cole-Engman syndrome
Definition
A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28.
Super Class
X-linked recessive disease dyskeratosis congenita
Disease Ontology
DOID:0070025
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1736 DKC1 dyskerin pseudouridine synthase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O60832 H/ACA ribonucleoprotein complex subunit DKC1
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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