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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 3
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Accession:DOID:0060581 term browser browse the term
Definition:A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)
Synonyms:exact_synonym: NS3
 primary_id: MESH:C537847
 alt_id: OMIM:609942
For additional species annotation, visit the Alliance of Genome Resources.



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Noonan syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hras HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:1904555 PMID:3510078 PMID:12727991 PMID:19855393 PMID:25157968 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 3
ClinVar Annotator: match by OMIM:609942
OMIM
ClinVar
PMID:8246952 PMID:12110640 PMID:14982869 PMID:16474404 PMID:16474405 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Lrrc56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:1904555 PMID:3510078 PMID:12727991 PMID:19855393 PMID:25157968 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 PMID:12529711 More... NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:22821648 PMID:25741868 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:25741868 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:17143282 PMID:17143285 PMID:17586837 PMID:19020799 PMID:19352411 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      congenital heart disease 1089
        Noonan syndrome 55
          Noonan syndrome 3 7
Path 2
Term Annotations click to browse term
  disease 17286
    Developmental Disease 10988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9531
        genetic disease 9032
          monogenic disease 7190
            autosomal genetic disease 6338
              autosomal dominant disease 4492
                Noonan syndrome 3 7
paths to the root