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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 Ehmke Syndrome;   Noonan's 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
 xref: GARD:10955;   ICD10CM:Q87.19;   MESH:D009634;   MIM:PS163950;   MONDO:0018997;   NCI:C34854;   NCI:C75459;   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 Apaf1 apoptotic peptidase activating factor 1 ISS MouseDO NCBI chr 7:25,494,143...25,579,540
Ensembl chr 7:25,494,609...25,579,540 		JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:2500657 PMID:2851224 PMID:3265306 PMID:11313766 PMID:12068308 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 1:78,730,255...78,740,585
Ensembl chr 1:78,730,275...78,740,593 		JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117 		JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr16:46,987,988...47,009,015
Ensembl chr16:46,986,107...47,008,437 		JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615 		JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO protein:decreased expression:serum (mouse) RGD PMID:22371576 PMID:16263833 RGD:11352540, RGD:11063837 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296 		JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr10:13,897,468...13,903,920
Ensembl chr10:13,898,395...13,902,677 		JBrowse link
G Kat6b lysine acetyltransferase 6B ISO
ISS		 MouseDO
RGD		 PMID:21804188 RGD:9590337 NCBI chr15:2,638,885...2,811,977
Ensembl chr15:2,639,200...2,812,316 		JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO Noonan syndrome type 3, OMIM:609942
DNA:missense mutation:exon:p.V14I (mouse)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar
RGD		 PMID:8234268 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 More... RGD:1600472, RGD:11060134 NCBI chr 4:178,185,418...178,218,484 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 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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
DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)
DNA:missense mutations:cds:R210X, c.2220-17C-A (human)		 ClinVar
RGD		 PMID:16356934 PMID:24362817 PMID:25335493 PMID:25480913 PMID:25741868 More... RGD:151667909, RGD:151708718, RGD:151667911 NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome		 CTD
ClinVar		 PMID:17366577 PMID:17703371 PMID:17704260 PMID:18060073 PMID:18456719 More... NCBI chr 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:17703371 PMID:17981815 PMID:18039235 PMID:18042262 PMID:18413255 More... NCBI chr 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
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		 CTD
ClinVar		 PMID:2674680 PMID:8120410 PMID:10598665 PMID:12460918 PMID:14982869 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223 		JBrowse link
G Plg plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		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 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 More... RGD:1581292, RGD:11352540 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:point mutation:exon:p.L613V (mouse)
DNA:missense mutations:exon:multiple
DNA:missense mutations: exon:multiple		 CTD
ClinVar
RGD		 PMID:1760348 PMID:10064593 PMID:11447113 PMID:11933072 PMID:12077328 More... RGD:12910711, RGD:11063621, RGD:11064431, RGD:11064112 NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO DNA:missense mutations:exon:multiple (human) RGD PMID:25049390 RGD:11096563 NCBI chr 8:97,119,983...97,236,687
Ensembl chr 8:97,118,802...97,236,671 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO DNA:missense mutations:exon:multiple (human)
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:missense mutation:exon:multiple 9human)		 ClinVar
RGD		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:23791108 More... RGD:11096563, RGD:11086309, RGD:151667911, RGD:155631269, RGD:11097409 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		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 1:95,500,582...95,504,362
Ensembl chr 1:95,500,566...95,504,357 		JBrowse link
G Rras2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome ClinVar PMID:8052619 PMID:25741868 PMID:28492532 PMID:31130282 PMID:31130285 NCBI chr 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111 		JBrowse link
G Serpine1 serpin family E member 1 ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657 		JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome		 CTD
ClinVar		 PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 8:64,677,204...64,680,769
Ensembl chr 8:64,677,205...64,681,964 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome | ClinVar Annotator: match by term: Noonan's syndrome
DNA:missense mutation:exon:p.R497Q (human)		 CTD
ClinVar
RGD		 PMID:1758637 PMID:1995362 PMID:11333268 PMID:16267129 PMID:17143282 More... RGD:11067112 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		JBrowse link
G Spred1 sprouty-related, EVH1 domain containing 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532 NCBI chr 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		JBrowse link
G Spred2 sprouty-related, EVH1 domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868 PMID:34626534 NCBI chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162 		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 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis with Noonan phenotype | ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1568246 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7586657 More... NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 3:103,983,120...104,050,321
Ensembl chr 3:103,983,072...104,049,718 		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 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
Noonan syndrome 1 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 1 ClinVar PMID:2851224 PMID:11313766 PMID:12068308 PMID:12460918 PMID:12460919 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr15:31,260,390...31,278,222
Ensembl chr15:31,260,357...31,278,177 		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 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 1 ClinVar PMID:16474404 PMID:16474405 PMID:16773572 PMID:17056636 PMID:17551339 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 1 ClinVar PMID:11150980 PMID:16155195 PMID:16170316 PMID:16329078 PMID:16372351 More... NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172 		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 chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 8:64,683,449...64,754,900
Ensembl chr 8:64,683,449...64,755,147 		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 7:8,590,729...8,610,279
Ensembl chr 7:8,580,905...8,610,243 		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 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 1
OMIM:163950		 OMIM
ClinVar
MouseDO		 PMID:1635821 PMID:1672296 PMID:2057894 PMID:2564168 PMID:2572450 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 1 ClinVar PMID:1760348 PMID:10064593 PMID:17603482 PMID:17603483 PMID:17603487 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		JBrowse link
G Rasa2 RAS p21 protein activator 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr 8:97,119,983...97,236,687
Ensembl chr 8:97,118,802...97,236,671 		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 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr12:35,347,493...35,352,011
Ensembl chr12:35,347,497...35,351,921 		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 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		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 ISS
ISO		 OMIM:616564
ClinVar Annotator: match by term: LZTR1-related disorder | ClinVar Annotator: match by term: Noonan syndrome 10		 MouseDO
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16356934 PMID:17576681 PMID:18948947 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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:9400994 PMID:25252692 PMID:25741868 PMID:28289718 PMID:28492532 More... NCBI chr 8:99,944,036...100,006,771
Ensembl chr 8:99,944,036...99,996,408 		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 1:168,233,693...168,303,111
Ensembl chr 1:168,233,693...168,303,111 		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 chr11:83,957,813...84,023,629
Ensembl chr11:83,957,813...84,023,616 		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 chr14:94,149,210...94,250,787
Ensembl chr14:94,148,837...94,249,162 		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 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive		 CTD
OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24362817 PMID:25335493 More... NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633 		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 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
ISS		 OMIM:609942
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome 3		 OMIM
MouseDO
CTD
ClinVar		 PMID:8246952 PMID:10590419 PMID:10681080 PMID:12110640 PMID:14982869 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:2057894 PMID:11704759 PMID:11992261 PMID:12161469 PMID:12325025 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:17603482 PMID:22821648 PMID:25741868 PMID:28492532 PMID:30157809 More... 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 PMID:28492532 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
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
ISS		 ClinVar Annotator: match by term: Noonan syndrome 4 | ClinVar Annotator: match by term: SOS1-related condition
OMIM:610733
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:CDS:p.E846K (mouse)
DNA:missense mutations:exon:multiple		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... RGD:11064696, RGD:11063026, RGD:11063543, RGD:11063178 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		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 chr 4:148,661,529...148,679,580
Ensembl chr 4:148,661,553...148,679,642 		JBrowse link
G Raf1 Raf-1 proto-oncogene, serine/threonine kinase ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 5
OMIM:611553
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1760348 PMID:9536098 PMID:10064593 PMID:10497893 PMID:14701845 More... NCBI chr 4:148,679,534...148,740,265
Ensembl chr 4:148,679,530...148,740,317 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1654209 PMID:2278970 PMID:2407301 PMID:2674680 PMID:2989702 More... NCBI chr 2:190,582,885...190,593,509
Ensembl chr 2:190,582,918...190,591,626 		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 chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		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 2:174,061,126...174,118,355
Ensembl chr 2:174,062,976...174,118,355 		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 2:174,319,341...174,347,489
Ensembl chr 2:174,318,983...174,346,461 		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 2:174,233,461...174,306,636
Ensembl chr 2:174,233,461...174,306,634 		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 2:174,149,059...174,177,816
Ensembl chr 2:174,149,141...174,177,504 		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 2:174,008,556...174,011,950
Ensembl chr 2:174,008,548...174,013,013 		JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		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 2:173,990,098...173,999,567
Ensembl chr 2:173,989,856...173,997,377 		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 2:174,305,945...174,310,230
Ensembl chr 2:174,301,861...174,310,216 		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 chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,000,323...174,006,422
Ensembl chr 2:174,000,323...174,006,422 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO
ISS		 ClinVar Annotator: match by term: Noonan syndrome 8 | ClinVar Annotator: match by term: RIT1-related condition
OMIM:615355		 OMIM
ClinVar
MouseDO		 PMID:2439608 PMID:2657980 PMID:7109146 PMID:8462668 PMID:9536098 More... NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,123,510...174,124,664 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,048,291...174,057,043
Ensembl chr 2:174,048,460...174,057,042 		JBrowse link
G Syt11 synaptotagmin 11 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 PMID:30684668 PMID:31463572 NCBI chr 2:174,206,032...174,232,540
Ensembl chr 2:174,206,191...174,231,964 		JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:174,012,726...174,028,062
Ensembl chr 2:174,012,777...174,028,059 		JBrowse link
Noonan syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atl1 atlastin GTPase 1 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,377,168...88,475,242
Ensembl chr 6:88,377,239...88,475,204 		JBrowse link
G Cdkl1 cyclin dependent kinase like 1 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,224,154...88,273,434
Ensembl chr 6:88,224,143...88,270,276 		JBrowse link
G Dmac2l distal membrane arm assembly component 2 like ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,205,580...88,223,934
Ensembl chr 6:88,205,700...88,223,933 		JBrowse link
G L2hgdh L-2-hydroxyglutarate dehydrogenase ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,164,429...88,205,585
Ensembl chr 6:88,164,440...88,205,578 		JBrowse link
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,284,087...88,377,118
Ensembl chr 6:88,284,094...88,376,799 		JBrowse link
G Nin ninein ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,525,405...88,627,710
Ensembl chr 6:88,525,742...88,627,639 		JBrowse link
G Sav1 salvador family WW domain containing protein 1 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:88,478,536...88,500,121
Ensembl chr 6:88,478,539...88,499,968 		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 6:88,042,966...88,156,140
Ensembl chr 6:88,042,966...88,156,692 		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 Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		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 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		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 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      congenital heart disease 1385
        Noonan syndrome 62
          Kousseff Nichols Syndrome 0
          Noonan Like Syndrome + 8
          Noonan Syndrome 14 1
          Noonan syndrome 1 17
          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 8
          neurofibromatosis-Noonan syndrome 4
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        Congenital Abnormalities 7762
          Cardiovascular Abnormalities 1585
            congenital heart disease 1385
              Noonan syndrome 62
                Kousseff Nichols Syndrome 0
                Noonan Like Syndrome + 8
                Noonan Syndrome 14 1
                Noonan syndrome 1 17
                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 8
                neurofibromatosis-Noonan syndrome 4
paths to the root