Noonan syndrome 1

Summary
Synonym
  • NS1
Definition
A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24.
Super Class
Noonan syndrome autosomal dominant disease
External Links
Disease Ontology
DOID:0060578
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 37 of 37 in total
Gene ID Gene Symbol Description Source
9126 SMC3 structural maintenance of chromosomes 3
9365 KL klotho
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