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 1 - 10 of 35 in total
Gene ID Gene Symbol Description Source
35 ACADS acyl-CoA dehydrogenase short chain
142 PARP1 poly(ADP-ribose) polymerase 1
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
412 STS steroid sulfatase
414 ARSD arylsulfatase D
570 BAAT bile acid-CoA:amino acid N-acyltransferase
847 CAT catalase
1583 CYP11A1 cytochrome P450 family 11 subfamily A member 1
1605 DAG1 dystroglycan 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