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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 PMID:26619011 PMID:31775759 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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 PMID:16773572 PMID:16921267 PMID:16987887 PMID:17056636 PMID:17324647 PMID:17468812 PMID:17551339 PMID:17704260 PMID:17875937 PMID:17875939 PMID:18386799 PMID:18456719 PMID:18509354 PMID:18628094 PMID:18958496 PMID:19020799 PMID:19396835 PMID:20112233 PMID:20949621 PMID:21062266 PMID:21686179 PMID:21784453 PMID:21871821 PMID:21909114 PMID:22211815 PMID:23321623 PMID:23885229 PMID:24033266 PMID:24037001 PMID:24703799 PMID:24803665 PMID:25326635 PMID:25326637 PMID:25359213 PMID:25741868 PMID:26822237 PMID:28492532 PMID:29493581 PMID:29948256 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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 PMID:26619011 PMID:31775759 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
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 PMID:12634870 PMID:12717436 PMID:12960218 PMID:14644997 PMID:14974085 PMID:15001945 PMID:15240615 PMID:15248152 PMID:15273746 PMID:15385933 PMID:15520399 PMID:15539800 PMID:15604238 PMID:15689434 PMID:15690106 PMID:15710330 PMID:15723289 PMID:15761018 PMID:15834506 PMID:15842656 PMID:15889278 PMID:15928039 PMID:15948193 PMID:15956085 PMID:15985475 PMID:15987685 PMID:15996221 PMID:16124853 PMID:16166557 PMID:16263833 PMID:16358218 PMID:16377799 PMID:16399795 PMID:16467864 PMID:16498234 PMID:16638574 PMID:16733669 PMID:16804314 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17361219 PMID:17497712 PMID:17546245 PMID:17641779 PMID:17661820 PMID:17972951 PMID:18241070 PMID:18286234 PMID:18372317 PMID:18470943 PMID:18505544 PMID:18678287 PMID:18759865 PMID:18854871 PMID:19017799 PMID:19020799 PMID:19047918 PMID:19077116 PMID:19120036 PMID:19125092 PMID:19179468 PMID:19273734 PMID:19582499 PMID:19706403 PMID:19737548 PMID:20112233 PMID:20186801 PMID:20308328 PMID:20578946 PMID:20718194 PMID:20931536 PMID:20954246 PMID:21106241 PMID:21204800 PMID:21340158 PMID:21407260 PMID:21677813 PMID:21680795 PMID:21706501 PMID:21744363 PMID:21784453 PMID:21803945 PMID:21901340 PMID:21910226 PMID:22058153 PMID:22190897 PMID:22315187 PMID:22420426 PMID:22465605 PMID:22488759 PMID:22681964 PMID:22711529 PMID:22781091 PMID:22848035 PMID:23321623 PMID:23584145 PMID:23624134 PMID:23673659 PMID:23756559 PMID:23771920 PMID:23832011 PMID:24030381 PMID:24033266 PMID:24037001 PMID:24150203 PMID:24219368 PMID:24451042 PMID:24458522 PMID:24628801 PMID:24803665 PMID:24821303 PMID:24931631 PMID:24935154 PMID:25097206 PMID:25156961 PMID:25253770 PMID:25326635 PMID:25337068 PMID:25359717 PMID:25395418 PMID:25585602 PMID:25595571 PMID:25708222 PMID:25724491 PMID:25741868 PMID:25741869 PMID:25862627 PMID:25914815 PMID:26084119 PMID:26242988 PMID:26456833 PMID:26467025 PMID:26495027 PMID:26607044 PMID:26742426 PMID:26817465 PMID:26822237 PMID:26918529 PMID:27038324 PMID:27069254 PMID:27104176 PMID:27276561 PMID:27460089 PMID:27521173 PMID:27626068 PMID:27683039 PMID:27884971 PMID:28363362 PMID:28492532 PMID:29493581 PMID:30311386 PMID:30732632 PMID:32581362 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
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 PMID:20186801 PMID:21274610 PMID:21387466 PMID:21784453 PMID:22190897 PMID:23487764 PMID:24033266 PMID:24037001 PMID:25337068 PMID:25741868 PMID:26214590 PMID:26686981 PMID:26918529 PMID:27236105 PMID:28378436 PMID:28492532 PMID:29037749 PMID:30266093 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      congenital heart disease 1057
        Noonan syndrome 54
          Noonan syndrome 3 6
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                Noonan syndrome 3 6
paths to the root