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Term:Noonan syndrome 1
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Accession:DOID:0060578 term browser browse the term
Definition:A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.
Synonyms:exact_synonym: NS1
 primary_id: OMIM:163950
 alt_id: RDO:9002164
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Noonan syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A2ml1 alpha-2-macroglobulin-like 1 JBrowse link 4 161,863,609 161,907,897 RGD:8554872
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:13592920
G Nras NRAS proto-oncogene, GTPase JBrowse link 2 205,553,119 205,563,716 RGD:8554872
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:7240710
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase JBrowse link 4 147,532,040 147,592,769 RGD:8554872

Term paths to the root
Path 1
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  disease 15625
    syndrome 5162
      Noonan syndrome 52
        Noonan syndrome 1 6
Path 2
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  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal dominant disease 2135
                Noonan syndrome 1 6
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.