Noonan syndrome 8

Summary
Synonym
  • NS8
Definition
A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22.
Super Class
Noonan syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0060586
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 35 of 35 in total
Gene ID Gene Symbol Description Source
11285 B4GALT7 beta-1,4-galactosyltransferase 7
56994 CHPT1 choline phosphotransferase 1
64132 XYLT2 xylosyltransferase 2
79623 GALNT14 polypeptide N-acetylgalactosaminyltransferase 14
79947 DHDDS dehydrodolichyl diphosphate synthase subunit

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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