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
External Links
Disease Ontology
DOID:0070025
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
2591 GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
64083 GOLPH3 golgi phosphoprotein 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q14435 Polypeptide N-acetylgalactosaminyltransferase 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024