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ONTOLOGY REPORT - ANNOTATIONS


Term:Noonan syndrome 8
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Accession:DOID:0060586 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in aused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: NS8
 primary_id: OMIM:615355
 alt_id: RDO:9000914
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Noonan syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgef2 Rho/Rac guanine nucleotide exchange factor 2 JBrowse link 2 187,964,100 188,022,847 RGD:8554872
G Khdc4 KH domain containing 4, pre-mRNA splicing factor JBrowse link 2 188,051,657 188,080,280 RGD:8554872
G Lamtor2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 JBrowse link 2 187,911,530 187,914,930 RGD:8554872
G Lmna lamin A/C JBrowse link 2 187,842,884 187,863,552 RGD:8554872
G Mex3a mex-3 RNA binding family member A JBrowse link 2 187,893,678 187,902,546 RGD:8554872
G Rab25 RAB25, member RAS oncogene family JBrowse link 2 187,903,301 187,909,398 RGD:8554872
G Rit1 Ras-like without CAAX 1 JBrowse link 2 188,087,486 188,099,444 RGD:7240710
RGD:8554872
G Rxfp4 relaxin family peptide/INSL5 receptor 4 JBrowse link 2 188,026,531 188,027,685 RGD:8554872
G Ssr2 signal sequence receptor subunit 2 JBrowse link 2 187,951,316 187,960,067 RGD:8554872
G Ubqln4 ubiquilin 4 JBrowse link 2 187,915,701 187,931,035 RGD:8554872

Term paths to the root
Path 1
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  disease 15620
    syndrome 5159
      Noonan syndrome 51
        Noonan syndrome 8 10
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Noonan syndrome 8 10
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.