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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;   RDO:0003757
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:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, 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:15389709, PMID:15470362, PMID:15520399, 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:16523510, PMID:16638574, PMID:16733669, PMID:16804314, PMID:16990350, PMID:17020470, PMID:17056636, PMID:17222357, 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:19206169, PMID:19273734, PMID:19467855, PMID:19582499, PMID:19706403, PMID:19737548, PMID:20112233, PMID:20186801, PMID:20308328, PMID:20493809, PMID:20578946, PMID:20718194, PMID:20931536, PMID:20954246, PMID:21106241, PMID:21204800, PMID:21340158, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21533187, PMID:21677813, PMID:21680795, PMID:21744363, PMID:21784453, PMID:21803945, 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:23799168, PMID:23832011, PMID:24030381, PMID:24033266, PMID:24037001, PMID:24150203, PMID:24219368, PMID:24451042, PMID:24458522, PMID:24628801, PMID:24718990, PMID:24803665, PMID:24821303, PMID:24931631, PMID:24935154, PMID:25097206, PMID:25156961, PMID:25253770, PMID:25326635, PMID:25337068, PMID:25359717, PMID:25395418, PMID:25595571, PMID:25708222, PMID:25724491, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25914815, PMID:26084119, PMID:26242988, PMID:26249544, PMID:26297936, 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:27619028, PMID:27626068, PMID:27683039, PMID:27884971, 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 16058
    syndrome 6996
      RASopathy 75
        Noonan syndrome 52
          Noonan syndrome 3 6
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Noonan syndrome 3 6
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.