Noonan syndrome
SaudiVarKB evidence summary derived from retained literature mentions.
8Phenotype mentions
8Publications
18Associated gene records
3Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| PTPN11 | HGNC:9644 | 2 | 2 |
| ULK1 | HGNC:12558 | 1 | 1 |
| MYBPC3 | HGNC:7551 | 1 | 1 |
| MYH7 | HGNC:7577 | 1 | 1 |
| TTR | HGNC:12405 | 1 | 1 |
| GLA | HGNC:4296 | 1 | 1 |
| PRKAG2 | HGNC:9386 | 1 | 1 |
| LZTR1 | HGNC:6742 | 1 | 1 |
| IDH1 | HGNC:5382 | 1 | 1 |
| NPM1 | HGNC:7910 | 1 | 1 |
| RAF1 | HGNC:9829 | 1 | 1 |
| BCL6 | HGNC:1001 | 1 | 1 |
| FLII | HGNC:3750 | 1 | 1 |
| ACACB | HGNC:85 | 1 | 1 |
| AASDH | HGNC:23993 | 1 | 1 |
| CASZ1 | HGNC:26002 | 1 | 1 |
| RHBDF1 | HGNC:20561 | 1 | 1 |
| RPL3L | HGNC:10351 | 1 | 1 |
Associated variant records
Co-mentioned in the same publicationsAssociated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 1 | 1 |
| Population record | Cohort 23 | 1 | 1 |
| Population record | Cohort 2,068 | 1 | 1 |
Supporting publications
8 records- 2026Uncovering the gene variants in a global cohort of patients with unexplained increased left ventricular wall thickness using next-generation sequencing.BMC cardiovascular disorders1 mentions
- 2025Deciphering the structural and dynamic effects of SHP2-E76 mutations: mechanistic insights into oncogenic activation.BMC chemistry1 mentions
- 2025Anesthetic implications of elective cesarean section in a parturient with Noonan syndrome and complex cardiomyopathy: A case report.Saudi journal of anaesthesia1 mentions
- 2024Discovering potential inhibitors of Raf proto-oncogene serine/threonine kinase 1: a virtual screening approach towards anticancer drug development.Journal of biomolecular structure & dynamics1 mentions
- 2020Comprehensive Genomic Analysis of Noonan Syndrome and Acute Myeloid Leukemia in Adults: A Review and Future Directions.Acta haematologica1 mentions
- 2020Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.Circulation. Genomic and precision medicine1 mentions
- 2018Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.Genetics in medicine : official journal of the American College of Medical Genetics1 mentions
- 2011Anesthetic considerations and difficult airway management in a case of Noonan syndrome.Saudi journal of anaesthesia1 mentions