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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
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Accession:DOID:3490 term browser browse the term
Definition:A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)
Synonyms:exact_synonym: Male Turner Syndrome;   NOONAN'S SYNDROME;   Noonan Ehmke Syndrome;   Pseudo Ullrich Turner Syndrome;   Turner like syndrome;   Turner phenotype with normal karyotype;   Turner's phenotype, karyotype normal;   Ullrich Noonan syndrome;   familial Turner syndrome;   female pseudo Turner syndrome;   male Turner's syndrome
 narrow_synonym: pterygium colli syndrome
 primary_id: MESH:D009634
 xref: GARD:10955;   ICD10CM:Q87.19;   NCI:C34854;   NCI:C75459;   OMIM:PS163950;   ORDO:648
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:24939586 PMID:25741868 PMID:26446362 PMID:27942422 PMID:28492532 More... NCBI chr 5:62,603,260...62,648,170
Ensembl chr 5:62,609,408...62,648,400 		JBrowse link
G APAF1 apoptotic peptidase activating factor 1 ISO MouseDO NCBI chr 5:85,166,616...85,258,751
Ensembl chr 5:85,166,628...85,258,364 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome | ClinVar Annotator: match by term: Turner phenotype with normal karyotype		 ClinVar PMID:2500657 PMID:2851224 PMID:3265306 PMID:11313766 PMID:12068308 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:16199547 PMID:18698078 PMID:19571318 PMID:19620960 PMID:20543203 More... NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G DMPK DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 6:52,100,259...52,110,822
Ensembl chr 6:52,100,259...52,110,478 		JBrowse link
G EPHA2 EPH receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 6:75,251,465...75,279,364
Ensembl chr 6:75,251,467...75,279,314 		JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr17:9,045,990...9,073,552
Ensembl chr17:9,046,002...9,073,520 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G IGF1 insulin like growth factor 1 treatment ISO protein:decreased expression:serum (mouse) RGD PMID:16263833 PMID:22371576 RGD:11063837 RGD:11352540 NCBI chr 5:81,762,027...81,909,253
Ensembl chr 5:81,775,970...81,848,033 		JBrowse link
G IGFALS insulin like growth factor binding protein acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr 3:40,173,595...40,177,789
Ensembl chr 3:40,174,764...40,177,784 		JBrowse link
G KAT6B lysine acetyltransferase 6B ISO RGD
MouseDO		 PMID:21804188 RGD:9590337 NCBI chr14:77,390,790...77,597,674
Ensembl chr14:77,404,136...77,597,673 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:8234268 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:16356934 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 PMID:18456719 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 ClinVar PMID:2674680 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PLAT plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr17:11,195,599...11,223,821
Ensembl chr17:11,195,602...11,224,032 		JBrowse link
G PLG plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 1:7,062,399...7,109,521
Ensembl chr 1:7,061,192...7,110,555 		JBrowse link
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 3:110,437,681...110,474,896
Ensembl chr 3:110,437,688...110,474,891 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1760348 PMID:10064593 PMID:11447113 PMID:11933072 PMID:12077328 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:25049390 RGD:11096563 NCBI chr13:82,230,138...82,352,759
Ensembl chr13:82,230,178...82,352,756 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:23791108 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RRAS RAS related ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:9536098 PMID:17576681 PMID:24033266 PMID:24705357 PMID:25741868 More... NCBI chr 6:54,680,596...54,684,714
Ensembl chr 6:54,680,600...54,684,719 		JBrowse link
G RRAS2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 NCBI chr 2:44,890,129...44,961,003 JBrowse link
G SERPINE1 serpin family E member 1 ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 3:8,863,738...8,871,572
Ensembl chr 3:8,863,695...8,871,547 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		JBrowse link
G SNAPC5 small nuclear RNA activating complex polypeptide 5 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 1:164,459,111...164,475,053
Ensembl chr 1:164,467,599...164,475,011 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:1758637 PMID:1995362 PMID:11333268 PMID:16267129 PMID:17143282 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:27942422 PMID:28492532 More... NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
G SPRED2 sprouty related EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:34626534 NCBI chr 3:76,527,646...76,649,652
Ensembl chr 3:76,523,589...76,649,651 		JBrowse link
neurofibromatosis-Noonan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:28492532 NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome OMIM
ClinVar		 PMID:190611 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 More... NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,813...43,753,969 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:22465605 PMID:28074573 PMID:28492532 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G SPRED1 sprouty related EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:132,903,103...133,016,725
Ensembl chr 1:132,902,304...133,015,742 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G CDC42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,123...80,089,233 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:31024343 NCBI chr 4:35,975,513...36,009,909
Ensembl chr 4:35,975,508...36,009,887 		JBrowse link
Noonan syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2ML1 alpha-2-macroglobulin like 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:28492532 NCBI chr 5:62,603,260...62,648,170
Ensembl chr 5:62,609,408...62,648,400 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:20543203 PMID:20694012 PMID:25283271 PMID:25741868 PMID:25952305 More... NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G GJB2 gap junction protein beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr11:774,090...781,252
Ensembl chr11:775,166...775,846 		JBrowse link
G HRAS HRas proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		JBrowse link
G LRRC56 leucine rich repeat containing 56 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G LZTR1 leucine zipper like post translational regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:16356934 PMID:25335493 PMID:25741868 PMID:25795793 PMID:26467025 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:12612583 PMID:15917206 PMID:16439621 PMID:16538226 PMID:17366577 More... NCBI chr 1:164,381,892...164,469,313
Ensembl chr 1:164,381,845...164,471,226 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17366577 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 2:74,626,739...74,651,352
Ensembl chr 2:74,626,783...74,651,348 		JBrowse link
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17671181 PMID:19966803 PMID:21263000 PMID:22220252 PMID:22499344 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 1 OMIM
ClinVar		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603487 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G RASA2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr13:82,230,138...82,352,759
Ensembl chr13:82,230,178...82,352,756 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:2439608 PMID:8462668 PMID:23791108 PMID:24033266 PMID:24469055 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RPL6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr14:39,302,447...39,309,239
Ensembl chr14:39,303,350...39,309,236 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:1995362 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18456719 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:25741868 PMID:25795793 PMID:26173643 PMID:28492532 PMID:29493581 NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220 		JBrowse link
Noonan syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: LZTR1-Related Disorder | ClinVar Annotator: match by term: Noonan syndrome 10 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:18948947 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
Noonan syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MRAS muscle RAS oncogene homolog ISO ClinVar Annotator: match by term: Noonan syndrome 11 OMIM
ClinVar		 PMID:25252692 PMID:25741868 PMID:28289718 PMID:28492532 PMID:30348783 More... NCBI chr13:79,137,489...79,211,139
Ensembl chr13:79,139,764...79,211,135 		JBrowse link
Noonan syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRAS2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome 12 | ClinVar Annotator: match by term: RRAS2-related condition OMIM
ClinVar		 PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 More... NCBI chr 2:44,890,129...44,961,003 JBrowse link
Noonan syndrome 13 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPK1 mitogen-activated protein kinase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 13 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32721402 NCBI chr14:50,083,079...50,165,528
Ensembl chr14:50,082,896...50,165,513 		JBrowse link
Noonan Syndrome 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPRED2 sprouty related EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome 14 OMIM
ClinVar		 PMID:25741868 PMID:34626534 NCBI chr 3:76,527,646...76,649,652
Ensembl chr 3:76,523,589...76,649,651 		JBrowse link
Noonan syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LZTR1 leucine zipper like post translational regulator 1 susceptibility ISO ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24362817 PMID:25335493 More... NCBI chr14:50,576,413...50,590,397
Ensembl chr14:50,576,624...50,590,397 		JBrowse link
Noonan syndrome 3 term browser
Symbol Object Name Qualifiers 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 2:299,662...302,539
Ensembl chr 2:299,660...302,501 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 3 OMIM
ClinVar		 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 PMID:14982869 More... NCBI chr 5:48,508,774...48,546,260
Ensembl chr 5:48,508,811...48,549,358 		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 2:303,836...323,701
Ensembl chr 2:304,430...323,699 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:2057894 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:17603482 PMID:22821648 PMID:25741868 PMID:28492532 PMID:30157809 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		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 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
Noonan syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related condition OMIM
ClinVar		 PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,209,641...101,362,723 		JBrowse link
Noonan syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MKRN2 makorin ring finger protein 2 ISO ClinVar Annotator: match by term: Noonan syndrome 5 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr13:68,546,482...68,584,341
Ensembl chr13:68,546,464...68,581,232 		JBrowse link
G RAF1 Raf-1 proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 5 OMIM
ClinVar		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr13:68,581,128...68,657,911
Ensembl chr13:68,580,812...68,657,829 		JBrowse link
Noonan syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRAS NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 6 OMIM
ClinVar		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 4:105,845,913...105,853,769
Ensembl chr 4:105,845,872...105,858,227 		JBrowse link
Noonan syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan syndrome 7 OMIM
ClinVar		 PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,991...9,132,553 		JBrowse link
Noonan syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGEF2 Rho/Rac guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:94,026,391...94,082,206
Ensembl chr 4:94,026,386...94,080,420 		JBrowse link
G DAP3 death associated protein 3 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 4:94,256,460...94,298,492
Ensembl chr 4:94,262,332...94,297,223 		JBrowse link
G GON4L gon-4 like ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 4:94,161,887...94,248,785 JBrowse link
G KHDC4 KH domain containing 4, pre-mRNA splicing factor ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:94,098,211...94,116,662
Ensembl chr 4:94,098,252...94,116,658 		JBrowse link
G LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:93,972,112...93,975,561
Ensembl chr 4:93,971,819...93,976,304 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:93,899,019...93,927,255
Ensembl chr 4:93,899,019...93,926,320 		JBrowse link
G MEX3A mex-3 RNA binding family member A ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:93,949,876...93,957,797
Ensembl chr 4:93,949,459...93,955,640 		JBrowse link
G MSTO1 misato mitochondrial distribution and morphology regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 4:94,248,203...94,252,624
Ensembl chr 4:94,248,230...94,253,034 		JBrowse link
G PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:25741868 PMID:26619011 PMID:27631024 NCBI chr13:117,193,935...117,282,151
Ensembl chr13:117,180,544...117,274,587 		JBrowse link
G RAB25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:93,961,136...93,970,742
Ensembl chr 4:93,961,148...93,970,712 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition OMIM
ClinVar		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:9536098 More... NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,117,882...94,127,384 		JBrowse link
G RXFP4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:94,083,974...94,085,095
Ensembl chr 4:94,082,826...94,088,224 		JBrowse link
G SSR2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:94,010,724...94,021,964
Ensembl chr 4:94,011,527...94,021,962 		JBrowse link
G SYT11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 4:94,139,345...94,163,091
Ensembl chr 4:94,139,347...94,163,049 		JBrowse link
G UBQLN4 ubiquilin 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 4:93,976,386...93,994,830
Ensembl chr 4:93,976,451...93,994,828 		JBrowse link
Noonan syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L2HGDH L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 1:180,020,862...180,069,168
Ensembl chr 1:180,020,863...180,069,146 		JBrowse link
G SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 9 | ClinVar Annotator: match by term: SOS2-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17143282 PMID:17143285 PMID:17576681 More... NCBI chr 1:179,907,578...180,014,941
Ensembl chr 1:179,907,590...180,015,220 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,059...121,444,136 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr 3:110,437,681...110,474,896
Ensembl chr 3:110,437,688...110,474,891 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,416,938...46,512,834 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,169...39,292,003 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    Developmental Disease 13240
      congenital heart disease 1325
        Noonan syndrome 56
          Kousseff Nichols Syndrome 0
          Noonan Like Syndrome + 7
          Noonan Syndrome 14 1
          Noonan syndrome 1 18
          Noonan syndrome 10 1
          Noonan syndrome 11 1
          Noonan syndrome 12 1
          Noonan syndrome 13 1
          Noonan syndrome 2 1
          Noonan syndrome 3 7
          Noonan syndrome 4 1
          Noonan syndrome 5 2
          Noonan syndrome 6 1
          Noonan syndrome 7 1
          Noonan syndrome 8 15
          Noonan syndrome 9 2
          neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 15289
    Developmental Disease 13240
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12318
        Congenital Abnormalities 7330
          Cardiovascular Abnormalities 1518
            congenital heart disease 1325
              Noonan syndrome 56
                Kousseff Nichols Syndrome 0
                Noonan Like Syndrome + 7
                Noonan Syndrome 14 1
                Noonan syndrome 1 18
                Noonan syndrome 10 1
                Noonan syndrome 11 1
                Noonan syndrome 12 1
                Noonan syndrome 13 1
                Noonan syndrome 2 1
                Noonan syndrome 3 7
                Noonan syndrome 4 1
                Noonan syndrome 5 2
                Noonan syndrome 6 1
                Noonan syndrome 7 1
                Noonan syndrome 8 15
                Noonan syndrome 9 2
                neurofibromatosis-Noonan syndrome 4
paths to the root