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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
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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: OMIM:163950


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 A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:28492532 NCBI chr27:36,844,292...36,882,274
Ensembl chr27:36,844,572...36,883,887 		JBrowse link
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 chr16:8,222,909...8,318,179
Ensembl chr16:8,222,907...8,317,906 		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 chr 5:14,600,409...14,676,974
Ensembl chr 5:14,607,013...14,676,956 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr25:17,952,851...17,958,289
Ensembl chr25:17,952,851...17,958,289 		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 chr18:25,642,844...25,644,717
Ensembl chr18:25,642,844...25,644,717 		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 chr27:22,261,753...22,296,704
Ensembl chr27:22,257,941...22,293,369 		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 chr18:25,647,024...25,662,646
Ensembl chr18:25,647,882...25,664,220 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16356934 PMID:25335493 PMID:25741868 PMID:25795793 PMID:26467025 More... NCBI chr26:30,501,793...30,519,698
Ensembl chr26:30,503,071...30,519,611 		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 chr30:30,683,192...30,760,479
Ensembl chr30:30,683,107...30,760,479 		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 chr20:55,465,460...55,487,629
Ensembl chr20:55,465,212...55,487,641 		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 chr17:52,411,733...52,418,788
Ensembl chr17:52,411,733...52,418,788 		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 chr26:9,989,218...10,072,245
Ensembl chr26:9,989,425...10,067,481 		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 chr20:5,892,839...5,972,672
Ensembl chr20:5,892,834...5,972,090 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr23:37,298,422...37,509,234
Ensembl chr23:37,411,022...37,506,844 		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 chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr26:9,970,416...9,975,897 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 chr17:31,007,940...31,181,569
Ensembl chr17:31,009,257...31,142,063 		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 chr 8:26,636,849...26,698,837
Ensembl chr 8:26,637,895...26,717,781 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15615
    Developmental Disease 13502
      congenital heart disease 1345
        Noonan syndrome 55
          Noonan syndrome 1 18
Path 2
Term Annotations click to browse term
  disease 15615
    Developmental Disease 13502
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12537
        genetic disease 12191
          monogenic disease 10183
            autosomal genetic disease 9394
              autosomal dominant disease 6214
                Noonan syndrome 1 18
paths to the root