Fraser syndrome 1

Summary
Synonym
  • FRASRS1
Definition
A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21.
Super Class
Fraser syndrome
External Links
Disease Ontology
DOID:0111405
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4907 NT5E 5'-nucleotidase ecto
158326 FREM1 FRAS1 related extracellular matrix 1
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P21589 5'-nucleotidase
Q5H8C1 FRAS1-related extracellular matrix protein 1

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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