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Standards Ontologies Notations
achromatopsia 7

Summary
Synonym
  • ACHM7
Definition
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23.
Super Class
achromatopsia autosomal recessive disease
Disease Ontology
DOID:0110009
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
22926 ATF6 activating transcription factor 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
226641 Atf6 activating transcription factor 6
Displaying 1 entry
Gene ID Gene Symbol Description Source
304962 Atf6 activating transcription factor 6
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International Collaboration

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: December 9, 2024