Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Noonan syndrome 1
go back to main search page
Accession:DOID:0060578 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)
Synonyms:exact_synonym: NS1;   Noonan syndrome type 1
 primary_id: MIM:163950

GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
Noonan syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chrNW_004955494:2,567,238...2,712,708 JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:20543203 PMID:20694012 PMID:25283271 PMID:25741868 PMID:25952305 More... NCBI chrNW_004955412:20,307,011...20,388,539
Ensembl chrNW_004955412:20,307,011...20,388,539 		JBrowse link
G Gjb2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chrNW_004955497:987,213...989,477
Ensembl chrNW_004955497:988,422...989,099 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chrNW_004955476:11,508,446...11,510,333
Ensembl chrNW_004955476:11,508,126...11,510,333 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 More... NCBI chrNW_004955413:20,298,852...20,328,756
Ensembl chrNW_004955413:20,298,824...20,328,758 		JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chrNW_004955476:11,493,299...11,507,022
Ensembl chrNW_004955476:11,491,688...11,506,700 		JBrowse link
G Lztr1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16356934 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 More... NCBI chrNW_004955442:19,315,427...19,333,361
Ensembl chrNW_004955442:19,315,427...19,333,522 		JBrowse link
G Map2k1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chrNW_004955450:9,181,851...9,205,277
Ensembl chrNW_004955450:9,181,851...9,239,648 		JBrowse link
G Map2k2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chrNW_004955495:4,695,239...4,718,380
Ensembl chrNW_004955495:4,695,768...4,722,098 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17671181 PMID:19966803 PMID:21263000 PMID:22220252 PMID:22499344 More... NCBI chrNW_004955435:18,001,517...18,009,105
Ensembl chrNW_004955435:18,001,517...18,009,103 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 1 OMIM
ClinVar		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chrNW_004955482:8,934,734...9,031,230
Ensembl chrNW_004955482:8,934,306...9,035,203 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603487 More... NCBI chrNW_004955429:17,980,956...18,049,723
Ensembl chrNW_004955429:18,025,932...18,049,723 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chrNW_004955508:4,097,455...4,199,954
Ensembl chrNW_004955508:4,100,525...4,196,753 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2439608 PMID:8462668 PMID:23791108 PMID:24033266 PMID:24469055 More... NCBI chrNW_004955545:2,089,530...2,099,404
Ensembl chrNW_004955545:2,089,536...2,099,404 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chrNW_004955482:8,917,777...8,923,150 JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1995362 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18456719 More... NCBI chrNW_004955441:6,649,895...6,724,271
Ensembl chrNW_004955441:6,646,385...6,713,028 		JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:28492532 PMID:29493581 NCBI chrNW_004955409:12,542,353...12,622,165
Ensembl chrNW_004955409:12,542,401...12,620,971 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14315
    syndrome 9732
      RASopathy 325
        Noonan syndrome 61
          Noonan syndrome 1 17
Path 2
Term Annotations click to browse term
  disease 14315
    Developmental Disease 12567
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11796
        genetic disease 11521
          monogenic disease 9861
            autosomal genetic disease 9458
              autosomal dominant disease 6117
                Noonan syndrome 1 17
paths to the root