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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 Apaf1 apoptotic peptidase activating factor 1 ISS MouseDO NCBI chr 7:31,699,309...31,784,192
Ensembl chr 7:31,699,885...31,784,192
JBrowse link
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
ClinVar Annotator: match by term: Noonan syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:3265306, PMID:4386970, PMID:5771505, PMID:12068308, PMID:12198537, PMID:12460918, PMID:12460919, PMID:12692057, PMID:12960123, PMID:15035987, PMID:16439621, PMID:16474404, PMID:16523510, PMID:16825433, PMID:16953233, PMID:17366577, PMID:17603482, PMID:17703371, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18060073, PMID:18413255, PMID:18456719, PMID:18953432, PMID:19010912, PMID:19206169, PMID:19238210, PMID:19376813, PMID:19416762, PMID:20395089, PMID:20523244, PMID:21483012, PMID:21871821, PMID:22190897, PMID:22495831, PMID:22649091, PMID:22798288, PMID:22805292, PMID:22892241, PMID:23026937, PMID:23093928, PMID:23680146, PMID:23715574, PMID:23833300, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24451042, PMID:24728327, PMID:24803665, PMID:25155755, PMID:25157968, PMID:25348715, PMID:25463315, PMID:25741868, PMID:26619011, PMID:28492532, PMID:28512244, PMID:28524057, PMID:28911804, PMID:30290804, PMID:30311386, PMID:30732632 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
ClinVar Annotator: match by term: Noonan syndrome
ClinVar PMID:19571318, PMID:19620960, PMID:20543203, PMID:20595524, PMID:20619386, PMID:20644105, PMID:20694012, PMID:20955399, PMID:21901340, PMID:22266821, PMID:23823657, PMID:24033266, PMID:25358541, PMID:25741868, PMID:25952305, PMID:26152360, PMID:28343148, PMID:28492532, PMID:28589114 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Dmpk DM1 protein kinase ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 1:79,988,096...79,999,358
Ensembl chr 1:79,989,019...79,999,364
JBrowse link
G Epha2 Eph receptor A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22845314 NCBI chr 5:159,845,773...159,874,203
Ensembl chr 5:159,845,774...159,874,206
JBrowse link
G F11 coagulation factor XI ISO protein:decreased expression:plasma: RGD PMID:3354599 RGD:11041743 NCBI chr16:50,179,458...50,201,644
Ensembl chr16:50,179,458...50,201,698
JBrowse link
G Hras HRas proto-oncogene, GTPase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome
CTD
ClinVar
PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:17703371, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:21438134, PMID:21495179, PMID:21850009, PMID:23093928, PMID:23406027, PMID:23429430, PMID:24033266, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 1:214,178,404...214,181,841
Ensembl chr 1:214,178,407...214,181,686
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 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link
G Igfals insulin-like growth factor binding protein, acid labile subunit ISO RGD PMID:16263833 RGD:11063837 NCBI chr10:14,240,308...14,243,554
Ensembl chr10:14,240,219...14,243,597
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO
ISS
MouseDO PMID:21804188 RGD:9590337 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO Noonan syndrome type 3, OMIM:609942
ClinVar Annotator: match by term: Noonan syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
DNA:missense mutation:exon:p.V14I (mouse)
ClinVar
CTD
PMID:8234268, PMID:8246952, PMID:12110640, PMID:12460918, PMID:14982869, PMID:16361624, PMID:16474404, PMID:16474405, PMID:16618717, PMID:16773572, PMID:16825433, PMID:16921267, PMID:16987887, PMID:17056636, PMID:17324647, PMID:17384584, PMID:17468812, PMID:17551339, PMID:17601930, PMID:17603482, PMID:17603483, PMID:17703371, PMID:17704260, PMID:17875937, PMID:17875939, PMID:18316791, PMID:18386799, PMID:18456719, PMID:18509354, PMID:18628094, PMID:18794081, PMID:18922928, PMID:18958496, PMID:19020799, PMID:19114683, PMID:19255327, PMID:19396835, PMID:19467855, PMID:19679400, PMID:19773371, PMID:20112233, PMID:20526288, PMID:20921462, PMID:20921465, PMID:20926413, PMID:20949621, PMID:21062266, PMID:21063026, PMID:21079152, PMID:21228335, PMID:21396583, PMID:21686179, PMID:21784453, PMID:21797849, PMID:21871821, PMID:21909114, PMID:22211815, PMID:22488932, PMID:22980975, PMID:23321623, PMID:23406027, PMID:23531339, PMID:23548132, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24240292, PMID:24703799, PMID:24803665, PMID:25157968, PMID:25180280, PMID:25326637, PMID:25359213, PMID:25644510, PMID:25741868, PMID:26242988, PMID:26249544, PMID:26985062, PMID:28492532, PMID:28650561, PMID:29493581, PMID:29948256, PMID:30311386, PMID:16474405, PMID:25359213 RGD:1600472, RGD:11060134 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 ClinVar PMID:16329078, PMID:16372351, PMID:16835863, PMID:17211612, PMID:17384584, PMID:18042262, PMID:19213030, PMID:19255327, PMID:19773371, PMID:21438134, PMID:21495179, PMID:21850009, PMID:23093928, PMID:23406027, PMID:23429430, PMID:24033266, PMID:25157968, PMID:25326635, PMID:25741868, PMID:26619011, PMID:28492532, PMID:29493581, PMID:168335863 NCBI chr 1:214,182,232...214,197,184
Ensembl chr 1:214,182,830...214,197,184
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Noonan syndrome
CTD
ClinVar
PMID:17703371, PMID:17704260, PMID:18060073, PMID:18632602, PMID:19411838, PMID:19915144, PMID:22197931, PMID:22327936, PMID:22588879, PMID:24033266, PMID:25049390, PMID:25157968, PMID:25741868, PMID:26619011, PMID:28492532, PMID:30763456 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Map2k2 mitogen activated protein kinase kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome
ClinVar Annotator: match by term: Noonan's syndrome
CTD
ClinVar
PMID:17703371, PMID:17981815, PMID:18039235, PMID:18413255, PMID:22753777, PMID:24033266, PMID:25741868, PMID:25802880, PMID:28492532, PMID:29493581, PMID:29696744 NCBI chr 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan Syndrome
ClinVar Annotator: match by term: Noonan syndrome
ClinVar Annotator: match by term: Noonan's syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:2674680, PMID:8120410, PMID:10598665, PMID:12460918, PMID:14982869, PMID:15046639, PMID:15831708, PMID:16273091, PMID:16291983, PMID:16518851, PMID:17384584, PMID:17699718, PMID:18390968, PMID:18794081, PMID:18952898, PMID:19047918, PMID:19657110, PMID:19966803, PMID:20130576, PMID:20179705, PMID:20619739, PMID:20736745, PMID:21263000, PMID:21305640, PMID:21729679, PMID:21829508, PMID:22855653, PMID:23414587, PMID:24033266, PMID:25157968, PMID:26619011, PMID:28098151, PMID:28492532, PMID:28594414 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Plat plasminogen activator, tissue type ISO protein:increased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
G Plg plasminogen ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
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, PMID:28211982, PMID:28492532 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO DNA:missense mutations:cds:multiple (human)
ClinVar Annotator: match by term: Noonan syndrome
ClinVar Annotator: match by term: Female pseudo-Turner syndrome
ClinVar Annotator: match by term: Noonan's syndrome
ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:163950
ClinVar
CTD
PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:10594032, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12325025, PMID:12529711, PMID:12634870, PMID:12717436, PMID:12739139, PMID:12826400, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14676626, PMID:14961557, PMID:14974085, PMID:14982869, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15273746, PMID:15385933, PMID:15389709, PMID:15520399, PMID:15539800, PMID:15604238, PMID:15689434, PMID:15690106, PMID:15710330, PMID:15712196, PMID:15723289, PMID:15725481, PMID:15761018, PMID:15834506, PMID:15842656, PMID:15889278, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16115145, PMID:16124853, PMID:16166557, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16377799, PMID:16399795, PMID:16461457, PMID:16467864, PMID:16498234, PMID:16523510, PMID:16533526, PMID:16631468, PMID:16638574, PMID:16643459, PMID:16679933, PMID:16733669, PMID:16804314, PMID:16830086, PMID:16892325, PMID:16924159, PMID:16987887, PMID:16990350, PMID:17020470, PMID:17053061, PMID:17056636, PMID:17143285, PMID:17177198, PMID:17222357, PMID:17227708, PMID:17339163, PMID:17361219, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17603482, PMID:17603483, PMID:17641779, PMID:17661820, PMID:17703371, PMID:17910045, PMID:17935252, PMID:17972951, PMID:18080325, PMID:18241070, PMID:18253957, PMID:18286234, PMID:18328949, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18378677, PMID:18454468, PMID:18470943, PMID:18505544, PMID:18562489, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19008228, PMID:19017799, PMID:19020799, PMID:19047918, PMID:19054014, PMID:19063751, PMID:19077116, PMID:19120036, PMID:19125092, PMID:19133693, PMID:19174044, PMID:19179468, PMID:19206169, PMID:19251646, PMID:19273734, PMID:19352411, PMID:19449407, PMID:19467855, PMID:19506109, PMID:19509418, PMID:19582499, PMID:19706403, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19795160, PMID:19825837, PMID:19835954, PMID:19864201, PMID:19927903, PMID:20030748, PMID:20186801, PMID:20237506, PMID:20308328, PMID:20383758, PMID:20493809, PMID:20535210, PMID:20578946, PMID:20651068, PMID:20718194, PMID:20883402, PMID:20931536, PMID:20954246, PMID:20979190, PMID:21106241, PMID:21204800, PMID:21248739, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21526175, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21677813, PMID:21680795, PMID:21744363, PMID:21747628, PMID:21784453, PMID:21803945, PMID:21910226, PMID:21910245, PMID:21930766, PMID:21934682, PMID:22058153, PMID:22190897, PMID:22315187, PMID:22371576, PMID:22411627, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22494877, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22711529, PMID:22781091, PMID:22822385, PMID:22848035, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23321623, PMID:23334668, PMID:23446178, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23624134, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23813970, PMID:23825065, PMID:23832011, PMID:23917401, PMID:24030381, PMID:24033266, PMID:24037001, PMID:24039098, PMID:24150203, PMID:24183200, PMID:24219368, PMID:24225993, PMID:24401936, PMID:24451042, PMID:24458522, PMID:24628801, PMID:24718990, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24821303, PMID:24931631, PMID:24935154, PMID:25097206, PMID:25156961, PMID:25231023, PMID:25326635, PMID:25326637, PMID:25337068, PMID:25359717, PMID:25383899, PMID:25395418, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25708222, PMID:25722345, PMID:25724491, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25884655, PMID:25912702, PMID:25914815, PMID:25917897, PMID:26084119, PMID:26203125, PMID:26242988, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26456833, PMID:26467025, PMID:26495027, PMID:26607044, PMID:26619011, PMID:26673822, PMID:26742426, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27030275, PMID:27038324, PMID:27069254, PMID:27104176, PMID:27153395, PMID:27238887, PMID:27276561, PMID:27353043, PMID:27460089, PMID:27484170, PMID:27521173, PMID:27619028, PMID:27626068, PMID:27659786, PMID:27683039, PMID:27783593, PMID:27884971, PMID:28051113, PMID:28074573, PMID:28084675, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28921562, PMID:28957739, PMID:28991257, PMID:29037749, PMID:29084544, PMID:29276006, PMID:29493581, PMID:29555671, PMID:29907801, PMID:29988639, PMID:30311386, PMID:30410095, PMID:30455982, PMID:30732632, PMID:30896080, PMID:31064749, PMID:31560489, PMID:32581362, PMID:32860008, PMID:32963807, PMID:11992261, PMID:22371576 RGD:1581292, RGD:11352540 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's syndrome, UMLS OMIM term: TURNER PHENOTYPE WITH NORMAL KARYOTYPE
ClinVar Annotator: match by term: Noonan syndrome
DNA:point mutation:exon:p.L613V (mouse)
DNA:missense mutations:exon:multiple
DNA:missense mutations: exon:multiple
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
ClinVar
CTD
PMID:1760348, PMID:10064593, PMID:11447113, PMID:11933072, PMID:12077328, PMID:12675918, PMID:14701845, PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603484, PMID:17603485, PMID:17603486, PMID:17603487, PMID:17603488, PMID:17603489, PMID:18241070, PMID:18505544, PMID:19020799, PMID:19437094, PMID:19568997, PMID:19933846, PMID:19953625, PMID:20052757, PMID:20679480, PMID:20683980, PMID:20876176, PMID:21339642, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22465605, PMID:22781091, PMID:22821648, PMID:22824796, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23737487, PMID:23877478, PMID:23885229, PMID:24033266, PMID:24732797, PMID:24775816, PMID:24777450, PMID:24803665, PMID:25706034, PMID:25741868, PMID:25862627, PMID:26266034, PMID:26446362, PMID:26619011, PMID:26903553, PMID:27040691, PMID:28492532, PMID:28777121, PMID:28991257, PMID:29084544, PMID:29271604, PMID:29493581, PMID:29948256, PMID:30157809, PMID:30311386, PMID:30732632, PMID:31145547, PMID:31560489, PMID:21339642, PMID:17603482, PMID:20052757, PMID:17603483 RGD:12910711, RGD:11063621, RGD:11064431, RGD:11064112 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:2439608, PMID:2657980, PMID:20876176, PMID:23791108, PMID:24033266, PMID:24469055, PMID:24803665, PMID:24901346, PMID:24939608, PMID:25049390, PMID:25124994, PMID:25741868, PMID:25959749, PMID:26242988, PMID:26446362, PMID:26714497, PMID:26757980, PMID:27101134, PMID:27109146, PMID:27226556, PMID:28347726, PMID:28492532, PMID:29402968, PMID:32860008 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rras RAS related ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:28492532, PMID:28875981 NCBI chr 1:101,012,822...101,016,720
Ensembl chr 1:101,012,822...101,016,720
JBrowse link
G Rras2 RAS related 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:8052619, PMID:25741868, PMID:31130282, PMID:31130285 NCBI chr 1:178,940,515...179,010,257
Ensembl chr 1:178,940,516...179,010,257
JBrowse link
G Serpine1 serpin family E member 1 ISO protein:decreased activity:blood: RGD PMID:20686427 RGD:13207331 NCBI chr12:22,641,104...22,651,482
Ensembl chr12:22,641,104...22,651,482
JBrowse link
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan syndrome
CTD
ClinVar
PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
JBrowse link
G Snapc5 small nuclear RNA activating complex, polypeptide 5 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar NCBI chr 8:69,127,708...69,131,539
Ensembl chr 8:69,127,708...69,131,539
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: TURNER PHENOTYPE WITH NORMAL KARYOTYPE
ClinVar Annotator: match by term: Noonan syndrome
ClinVar Annotator: match by term: Turner Syndrome, Male
DNA:missense mutation:exon:p.R497Q (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Noonan's syndrome, UMLS OMIM term: NOONAN SYNDROME
ClinVar
CTD
PMID:1758637, PMID:11333268, PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:17603482, PMID:17603483, PMID:18456719, PMID:18651097, PMID:18678287, PMID:18772396, PMID:18854871, PMID:18925667, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20133692, PMID:20133694, PMID:20186801, PMID:20305546, PMID:20461756, PMID:20493809, PMID:20607846, PMID:20673819, PMID:20683980, PMID:21041952, PMID:21274610, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21744363, PMID:21779504, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22494877, PMID:22551697, PMID:22585553, PMID:22604720, PMID:23165751, PMID:23452850, PMID:23487764, PMID:23665959, PMID:23673306, PMID:23756559, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24270602, PMID:24451042, PMID:24458522, PMID:24522193, PMID:24803665, PMID:25073238, PMID:25180280, PMID:25337068, PMID:25712082, PMID:25741868, PMID:25862627, PMID:26214590, PMID:26249544, PMID:26297936, PMID:26582918, PMID:26686981, PMID:26708403, PMID:26918529, PMID:27236105, PMID:27304678, PMID:28378436, PMID:28492532, PMID:29037749, PMID:29402968, PMID:29493581, PMID:29625050, PMID:29696744, PMID:29752777, PMID:30039904, PMID:30266093, PMID:30311386, PMID:30784236, PMID:31219622, PMID:20683980 RGD:11067112 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome ClinVar PMID:25741868, PMID:25795793, PMID:26173643, PMID:28492532, PMID:29493581, PMID:30311386 NCBI chr 6:91,885,292...92,008,059
Ensembl chr 6:91,883,425...92,007,957
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 7:11,458,971...11,478,520
Ensembl chr 7:11,458,967...11,478,489
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Neurofibromatosis-Noonan syndrome
ClinVar Annotator: match by OMIM:601321
OMIM
ClinVar
PMID:190611, PMID:1568246, PMID:1770531, PMID:6025371, PMID:7586657, PMID:7904209, PMID:9375928, PMID:9654211, PMID:9691142, PMID:9783703, PMID:10090487, PMID:10678181, PMID:10712197, PMID:10726756, PMID:10862084, PMID:10980545, PMID:12522551, PMID:12552569, PMID:12707950, PMID:12807981, PMID:14569132, PMID:15060124, PMID:15146469, PMID:15221447, PMID:15863657, PMID:16138229, PMID:16199547, PMID:16542390, PMID:16786042, PMID:16835897, PMID:16944272, PMID:17105749, PMID:17160901, PMID:17369502, PMID:17726231, PMID:18041031, PMID:18172006, PMID:19117870, PMID:19539839, PMID:19845691, PMID:19920235, PMID:20142468, PMID:20602485, PMID:21089071, PMID:21354044, PMID:21520333, PMID:21532985, PMID:22041710, PMID:22155606, PMID:22429592, PMID:22604720, PMID:22703879, PMID:22962301, PMID:23047742, PMID:23165953, PMID:23244495, PMID:23354915, PMID:23460398, PMID:23656349, PMID:23668869, PMID:23758643, PMID:23812910, PMID:23913538, PMID:24033266, PMID:24218100, PMID:24219125, PMID:24728327, PMID:24789688, PMID:25074460, PMID:25324428, PMID:25325900, PMID:25541118, PMID:25741868, PMID:25951773, PMID:26000329, PMID:26056819, PMID:26155992, PMID:26178382, PMID:26467025, PMID:26489445, PMID:26510091, PMID:26740943, PMID:26758488, PMID:27069254, PMID:27170677, PMID:27322474, PMID:27793025, PMID:28213670, PMID:28492532, PMID:28873162, PMID:28976792, PMID:29483232, PMID:29872168, PMID:30190611, PMID:30287823, PMID:30308447, PMID:30311386, PMID:32566746 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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 Disorder ClinVar PMID:19620960, PMID:20951944, PMID:24033266, PMID:27069254, PMID:28492532, PMID:29296819 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar PMID:25741868, PMID:29394990 NCBI chr 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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:16267129, PMID:17143282, PMID:17143285, PMID:17586837, PMID:18651097, PMID:18854871, PMID:18925667, PMID:19020799, PMID:19352411, PMID:20305546, PMID:20493809, PMID:20683980, PMID:21387466, PMID:21784453, PMID:22190897, PMID:22465605, PMID:22488759, PMID:22585553, PMID:23487764, PMID:23885229, PMID:24033266, PMID:24037001, PMID:25712082, PMID:25741868, PMID:25862627, PMID:25864170, PMID:26297936, PMID:27304678, PMID:28378436, PMID:28492532, PMID:29625050, PMID:29696744, PMID:29752777 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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
ISS
ClinVar Annotator: match by term: Noonan syndrome 1
OMIM:163950
ClinVar
MouseDO
PMID:4386970, PMID:5771505, PMID:12068308, PMID:12460918, PMID:12460919, PMID:12960123, PMID:15035987, PMID:16523510, PMID:16804887, PMID:16825433, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18413255, PMID:19010912, PMID:19206169, PMID:19238210, PMID:19416762, PMID:21063443, PMID:21483012, PMID:22190897, PMID:22649091, PMID:22798288, PMID:22805292, PMID:22892241, PMID:23093928, PMID:23715574, PMID:23833300, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24088041, PMID:24803665, PMID:25157968, PMID:25741868, PMID:26633545, PMID:28492532, PMID:30290804 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
JBrowse link
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:25741868 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Gjb2 gap junction protein, beta 2 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:30311386 NCBI chr15:37,377,313...37,394,494
Ensembl chr15:37,377,316...37,383,277
JBrowse link
G Map2k1 mitogen activated protein kinase kinase 1 ISS
ISO
OMIM:163950
ClinVar Annotator: match by term: Noonan syndrome 1
MouseDO
ClinVar
PMID:12239713, PMID:12529707, PMID:16439621, PMID:16474404, PMID:17366577, PMID:17551924, PMID:17567882, PMID:17704260, PMID:17981815, PMID:18042262, PMID:18413255, PMID:18632602, PMID:18854871, PMID:19156172, PMID:19376813, PMID:20958325, PMID:21654472, PMID:22589294, PMID:22753777, PMID:22848035, PMID:23093928, PMID:24033266, PMID:24101678, PMID:24236184, PMID:24637312, PMID:25326635, PMID:25423878, PMID:25741868, PMID:25741869, PMID:26350204, PMID:26795593, PMID:27862862, PMID:28492532, PMID:30311386 NCBI chr 8:69,134,218...69,722,573
Ensembl chr 8:69,134,223...69,164,758
JBrowse link
G Nras NRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:19966803, PMID:21263000, PMID:22499344, PMID:22855653, PMID:24033266, PMID:25741868, PMID:26467218, PMID:28492532, PMID:28594414 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome 1 OMIM
ClinVar
PMID:1258892, PMID:1543375, PMID:4025385, PMID:4386970, PMID:8530013, PMID:9222968, PMID:11704759, PMID:11992261, PMID:12058348, PMID:12161469, PMID:12161596, PMID:12325025, PMID:12529711, PMID:12634870, PMID:12717436, PMID:12739139, PMID:12826400, PMID:12960218, PMID:14634749, PMID:14644997, PMID:14676626, PMID:14961557, PMID:14974085, PMID:14982869, PMID:15001945, PMID:15009076, PMID:15121796, PMID:15240615, PMID:15248152, PMID:15273746, PMID:15384080, PMID:15385933, PMID:15389709, PMID:15470362, PMID:15520399, PMID:15539800, PMID:15604238, PMID:15689434, PMID:15690106, PMID:15710330, PMID:15712196, PMID:15723289, PMID:15725481, PMID:15761018, PMID:15834506, PMID:15842656, PMID:15889278, PMID:15928039, PMID:15929108, PMID:15948193, PMID:15956085, PMID:15985475, PMID:15987685, PMID:15996221, PMID:16053901, PMID:16115145, PMID:16124853, PMID:16166557, PMID:16263833, PMID:16338218, PMID:16358218, PMID:16369799, PMID:16377799, PMID:16399795, PMID:16461457, PMID:16498234, PMID:16523510, PMID:16533526, PMID:16631468, PMID:16638574, PMID:16643459, PMID:16679933, PMID:16733669, PMID:16804314, PMID:16830086, PMID:16924159, PMID:16987887, PMID:16990350, PMID:17020470, PMID:17053061, PMID:17056636, PMID:17143285, PMID:17177198, PMID:17222357, PMID:17227708, PMID:17339163, PMID:17361219, PMID:17497712, PMID:17515436, PMID:17546245, PMID:17641779, PMID:17661820, PMID:17875892, PMID:17910045, PMID:17935252, PMID:17972951, PMID:18080325, PMID:18241070, PMID:18253957, PMID:18286234, PMID:18328949, PMID:18331608, PMID:18372317, PMID:18373317, PMID:18378677, PMID:18454468, PMID:18470943, PMID:18505544, PMID:18562489, PMID:18678287, PMID:18758896, PMID:18759865, PMID:18849586, PMID:18854871, PMID:19008228, PMID:19017799, PMID:19020799, PMID:19047918, PMID:19054014, PMID:19063751, PMID:19077116, PMID:19120036, PMID:19125092, PMID:19133693, PMID:19174044, PMID:19179468, PMID:19206169, PMID:19251646, PMID:19273734, PMID:19352411, PMID:19449407, PMID:19467855, PMID:19506109, PMID:19509418, PMID:19582499, PMID:19706403, PMID:19725129, PMID:19737548, PMID:19768645, PMID:19825837, PMID:19835954, PMID:19864201, PMID:20030748, PMID:20112233, PMID:20186801, PMID:20237506, PMID:20308328, PMID:20383758, PMID:20493809, PMID:20535210, PMID:20578946, PMID:20651068, PMID:20718194, PMID:20883402, PMID:20931536, PMID:20954246, PMID:20979190, PMID:21106241, PMID:21248739, PMID:21321969, PMID:21339643, PMID:21340158, PMID:21365175, PMID:21365683, PMID:21396583, PMID:21407260, PMID:21500339, PMID:21526175, PMID:21533187, PMID:21567923, PMID:21590266, PMID:21677813, PMID:21744363, PMID:21747628, PMID:21784453, PMID:21803945, PMID:21910226, PMID:21910245, PMID:21934682, PMID:22058153, PMID:22190897, PMID:22253195, PMID:22315187, PMID:22371576, PMID:22411627, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22555271, PMID:22585553, PMID:22681964, PMID:22711529, PMID:22781091, PMID:22822385, PMID:22848035, PMID:22923420, PMID:23312806, PMID:23317994, PMID:23321623, PMID:23334668, PMID:23446178, PMID:23457302, PMID:23513489, PMID:23584145, PMID:23624134, PMID:23673659, PMID:23726368, PMID:23756559, PMID:23771920, PMID:23799168, PMID:23813970, PMID:23832011, PMID:23917401, PMID:24033266, PMID:24037001, PMID:24039098, PMID:24150203, PMID:24183200, PMID:24219368, PMID:24401936, PMID:24451042, PMID:24458522, PMID:24628801, PMID:24718990, PMID:24728327, PMID:24754368, PMID:24767283, PMID:24775816, PMID:24803665, PMID:24820750, PMID:24891296, PMID:24896146, PMID:24935154, PMID:24939587, PMID:25097206, PMID:25156961, PMID:25231023, PMID:25326635, PMID:25326637, PMID:25337068, PMID:25359717, PMID:25383899, PMID:25395418, PMID:25500235, PMID:25544017, PMID:25595571, PMID:25612910, PMID:25708222, PMID:25724491, PMID:25731833, PMID:25741868, PMID:25741869, PMID:25862627, PMID:25884655, PMID:25912702, PMID:25914815, PMID:25917897, PMID:26084119, PMID:26206283, PMID:26242988, PMID:26249544, PMID:26297936, PMID:26337637, PMID:26456833, PMID:26467025, PMID:26495027, PMID:26607044, PMID:26619011, PMID:26673822, PMID:26742426, PMID:26785492, PMID:26817465, PMID:26822237, PMID:26918529, PMID:27030275, PMID:27038324, PMID:27069254, PMID:27104176, PMID:27153395, PMID:27238887, PMID:27276561, PMID:27353043, PMID:27484170, PMID:27521173, PMID:27562378, PMID:27619028, PMID:27626068, PMID:27659786, PMID:28051113, PMID:28074573, PMID:28098151, PMID:28125078, PMID:28483241, PMID:28492532, PMID:28628100, PMID:28650561, PMID:28681392, PMID:28957739, PMID:29276006, PMID:29493581, PMID:29555671, PMID:29907801, PMID:30311386, PMID:30732632, PMID:30868567, PMID:31064749, PMID:32581362, PMID:32860008, PMID:32963807 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 1 ClinVar PMID:1760348, PMID:10064593, PMID:16523510, PMID:17603482, PMID:17603483, PMID:19437094, PMID:19568997, PMID:19953625, PMID:20052757, PMID:20876176, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:26446362, PMID:26619011, PMID:26903553, PMID:28492532, PMID:29084544, PMID:29493581, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:20876176, PMID:23791108, PMID:24033266, PMID:24469055, PMID:24803665, PMID:24901346, PMID:24939608, PMID:25049390, PMID:25124994, PMID:25741868, PMID:25959749, PMID:26242988, PMID:26714497, PMID:26757980, PMID:27101134, PMID:27109146, PMID:27226556, PMID:28492532, PMID:29402968 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rpl6 ribosomal protein L6 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar NCBI chr12:40,877,578...40,882,032
Ensembl chr12:40,877,613...40,881,124
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Noonan syndrome 1 ClinVar PMID:17143282, PMID:17143285, PMID:17586837, PMID:18651097, PMID:18854871, PMID:18925667, PMID:19020799, PMID:19352411, PMID:19953625, PMID:20186801, PMID:20305546, PMID:20673819, PMID:20683980, PMID:21274610, PMID:21387466, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22494877, PMID:23487764, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24458522, PMID:25337068, PMID:25712082, PMID:25741868, PMID:25862627, PMID:26214590, PMID:26297936, PMID:26467025, PMID:26686981, PMID:26918529, PMID:27236105, PMID:27304678, PMID:28378436, PMID:28492532, PMID:29037749, PMID:29625050, PMID:29696744, PMID:29752777, PMID:30266093, PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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 transcription regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 10 ClinVar
OMIM
PMID:16356934, PMID:18072270, PMID:19582488, PMID:22105938, PMID:23401320, PMID:24362817, PMID:25335493, PMID:25480913, PMID:25741868, PMID:25795793, PMID:27472264, PMID:27856782, PMID:28295212, PMID:28492532, PMID:30368668, PMID:30442762, PMID:30442766, PMID:30481304, PMID:30859559, PMID:31825158 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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:28289718, PMID:30348783, PMID:31173466 NCBI chr 8:107,629,028...107,656,851
Ensembl chr 8:107,629,028...107,681,512
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 OMIM
ClinVar
PMID:8052619, PMID:25741868, PMID:31130282, PMID:31130285 NCBI chr 1:178,940,515...179,010,257
Ensembl chr 1:178,940,516...179,010,257
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 transcription regulator 1 ISO ClinVar Annotator: match by term: Noonan syndrome 2 ClinVar
OMIM
PMID:25741868, PMID:28492532, PMID:29469822, PMID:30859559 NCBI chr11:87,381,638...87,397,849
Ensembl chr11:87,381,899...87,397,498
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, 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
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 OMIM:610733
DNA:missense mutations:exon:multiple
OMIM
ClinVar
PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:18651097, PMID:18678287, PMID:18854871, PMID:18925667, PMID:18972187, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20305546, PMID:20461756, PMID:20493809, PMID:20683980, PMID:20981092, PMID:21274610, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21744363, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22551697, PMID:22585553, PMID:22589294, PMID:22604720, PMID:23165751, PMID:23487764, PMID:23665959, PMID:23756559, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24522193, PMID:24896146, PMID:25073238, PMID:25180280, PMID:25337068, PMID:25712082, PMID:25741868, PMID:25802880, PMID:25862627, PMID:25864170, PMID:26214590, PMID:26249544, PMID:26297936, PMID:26467025, PMID:26580448, PMID:26686981, PMID:26708403, PMID:26918529, PMID:27153395, PMID:27236105, PMID:27304678, PMID:27763634, PMID:28378436, PMID:28492532, PMID:28870985, PMID:28884940, PMID:29037749, PMID:29625050, PMID:29696744, PMID:29752777, PMID:29868112, PMID:30266093, PMID:30784236, PMID:17143282, PMID:17143285, PMID:17586837 RGD:11063026, RGD:11063543, RGD:11063178 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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 NCBI chr 4:147,514,041...147,532,086
Ensembl chr 4:147,514,120...147,532,084
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:10064593, PMID:10497893, PMID:16523510, PMID:17603482, PMID:17603483, PMID:17603485, PMID:17603487, PMID:17603489, PMID:18241070, PMID:18505544, PMID:18553519, PMID:19020799, PMID:19437094, PMID:19568997, PMID:19723757, PMID:19933846, PMID:19953625, PMID:20052757, PMID:20679480, PMID:20683980, PMID:20876176, PMID:21339642, PMID:21396583, PMID:21440552, PMID:21784453, PMID:22389993, PMID:22465605, PMID:22558107, PMID:22781091, PMID:22824796, PMID:22826437, PMID:23312806, PMID:23321623, PMID:23613113, PMID:23877478, PMID:23885229, PMID:24033266, PMID:24775816, PMID:24777450, PMID:25706034, PMID:25741868, PMID:25862627, PMID:26266034, PMID:26446362, PMID:26467173, PMID:26580448, PMID:26619011, PMID:26903553, PMID:27753652, PMID:28492532, PMID:28777121, PMID:28991257, PMID:29084544, PMID:29232918, PMID:29493581, PMID:29948256, PMID:30311386 NCBI chr 4:147,532,040...147,592,769
Ensembl chr 4:147,532,042...147,592,699
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:2407301, PMID:2674680, PMID:2989702, PMID:8120410, PMID:16291983, PMID:17332249, PMID:17517660, PMID:17671181, PMID:18375819, PMID:18390968, PMID:19657110, PMID:19775298, PMID:19966803, PMID:20130576, PMID:20179705, PMID:21079152, PMID:21263000, PMID:22855653, PMID:23325582, PMID:23414587, PMID:23431193, PMID:24033266, PMID:24806883, PMID:25157968, PMID:25741868, PMID:26467218, PMID:26619011, PMID:26661077, PMID:27069254, PMID:27121720, PMID:28492532, PMID:28594414 NCBI chr 2:205,553,119...205,563,716
Ensembl chr 2:205,553,163...205,560,791
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:4386970, PMID:5771505, PMID:12068308, PMID:12460918, PMID:12460919, PMID:12810628, PMID:12960123, PMID:14749708, PMID:15035987, PMID:15578519, PMID:16523510, PMID:16619251, PMID:16825433, PMID:17344846, PMID:17704260, PMID:18039235, PMID:18042262, PMID:18413255, PMID:18456719, PMID:18470943, PMID:19010912, PMID:19206169, PMID:19238210, PMID:19416762, PMID:21483012, PMID:22190897, PMID:22649091, PMID:22798288, PMID:22805292, PMID:22892241, PMID:23093928, PMID:23715574, PMID:23833300, PMID:23875798, PMID:23950000, PMID:24033266, PMID:24088041, PMID:24728327, PMID:24803665, PMID:24920063, PMID:25157968, PMID:25741868, PMID:26260725, PMID:26530882, PMID:26580448, PMID:26633545, PMID:26848617, PMID:28492532, PMID:30290804 NCBI chr 4:67,389,331...67,520,549
Ensembl chr 4:67,396,192...67,520,356
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 2:187,964,100...188,022,847
Ensembl chr 2:187,977,008...188,021,377
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 2:188,051,657...188,080,280
Ensembl chr 2:188,052,236...188,080,301
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 2:187,911,530...187,914,930
Ensembl chr 2:187,911,533...187,915,596
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
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 2:187,893,678...187,902,546
Ensembl chr 2:187,893,368...187,898,310
JBrowse link
G Rab25 RAB25, member RAS oncogene family ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:187,903,301...187,909,398
Ensembl chr 2:187,903,307...187,909,394
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Noonan syndrome 8 OMIM
ClinVar
PMID:2439608, PMID:2657980, PMID:7109146, PMID:23791108, PMID:24033266, PMID:24469055, PMID:24803665, PMID:24901346, PMID:24939608, PMID:25049390, PMID:25124994, PMID:25294908, PMID:25741868, PMID:25959749, PMID:26242988, PMID:26446362, PMID:26518681, PMID:26714497, PMID:26757980, PMID:27101134, PMID:27109146, PMID:27226556, PMID:28347726, PMID:28492532, PMID:28554332, PMID:29402968, PMID:29734338, PMID:30293990, PMID:32860008 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rxfp4 relaxin family peptide/INSL5 receptor 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:188,026,531...188,027,685 JBrowse link
G Ssr2 signal sequence receptor subunit 2 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:187,951,316...187,960,067
Ensembl chr 2:187,951,344...187,960,063
JBrowse link
G Ubqln4 ubiquilin 4 ISO ClinVar Annotator: match by term: Noonan syndrome 8 ClinVar PMID:28492532 NCBI chr 2:187,915,701...187,931,035
Ensembl chr 2:187,915,751...187,931,035
JBrowse link
Noonan syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arf6 ADP-ribosylation factor 6 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,697,109...91,698,257
Ensembl chr 6:91,697,109...91,698,255
JBrowse link
G Dnaaf2 dynein, axonemal, assembly factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,481,439...91,490,189
Ensembl chr 6:91,481,954...91,490,366
JBrowse link
G Klhdc1 kelch domain containing 1 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,532,380...91,584,112
Ensembl chr 6:91,532,467...91,584,200
JBrowse link
G Klhdc2 kelch domain containing 2 ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,595,443...91,630,479
Ensembl chr 6:91,595,823...91,610,799
JBrowse link
G Nemf nuclear export mediator factor ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,611,021...91,676,394 JBrowse link
G Pole2 DNA polymerase epsilon 2, accessory subunit ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,494,348...91,532,355
Ensembl chr 6:91,494,393...91,518,996
JBrowse link
G Sos2 SOS Ras/Rho guanine nucleotide exchange factor 2 ISO ClinVar Annotator: match by term: Noonan syndrome 9 OMIM
ClinVar
PMID:21533187, PMID:24033266, PMID:25741868, PMID:25795793, PMID:26173643, PMID:28492532, PMID:29493581, PMID:30311386 NCBI chr 6:91,885,292...92,008,059
Ensembl chr 6:91,883,425...92,007,957
JBrowse link
G Vcpkmt valosin containing protein lysine methyltransferase ISO ClinVar Annotator: match by term: Noonan syndrome 9 ClinVar PMID:28492532 NCBI chr 6:91,880,342...91,884,336 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, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
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 OMIM
ClinVar
PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28074886, PMID:28492532, PMID:29907801, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
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
OMIM
PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
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: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ClinVar Annotator: match by OMIM:613563
OMIM
ClinVar
PMID:17446348, PMID:19387008, PMID:19571318, PMID:19620960, PMID:19901108, PMID:20543203, PMID:20595524, PMID:20619386, PMID:20694012, PMID:20951944, PMID:21828135, PMID:22246246, PMID:22266821, PMID:22733026, PMID:23690417, PMID:23696637, PMID:23823657, PMID:24033266, PMID:24458550, PMID:24728327, PMID:24896146, PMID:25178484, PMID:25224413, PMID:25283271, PMID:25358541, PMID:25731833, PMID:25741868, PMID:25939664, PMID:25952305, PMID:26152360, PMID:27069254, PMID:28414188, PMID:28492532, PMID:28589114, PMID:29296819 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
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, PMID:15389709, PMID:15520399, PMID:16053901, PMID:16358218, PMID:16377799, PMID:16638574, PMID:16679933, PMID:17020470, PMID:18372317, PMID:18849586, PMID:19725129, PMID:19768645, PMID:20308328, PMID:21339643, PMID:21747628, PMID:22681964, PMID:22822385, PMID:23673659, PMID:24033266, PMID:24401936, PMID:24775816, PMID:24820750, PMID:24935154, PMID:25731833, PMID:25741868, PMID:25917897, PMID:26337637, PMID:26918529, PMID:28483241, PMID:28492532, PMID:29276006, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      RASopathy 75
        Noonan syndrome 52
          Kousseff Nichols Syndrome 0
          Noonan Like Syndrome + 7
          Noonan Syndrome 11 1
          Noonan Syndrome 12 1
          Noonan syndrome 1 10
          Noonan syndrome 10 1
          Noonan syndrome 2 1
          Noonan syndrome 3 6
          Noonan syndrome 4 1
          Noonan syndrome 5 2
          Noonan syndrome 6 1
          Noonan syndrome 7 1
          Noonan syndrome 8 10
          Noonan syndrome 9 8
          neurofibromatosis-Noonan syndrome 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Cardiovascular Abnormalities 1129
            congenital heart disease 1074
              Noonan syndrome 52
                Kousseff Nichols Syndrome 0
                Noonan Like Syndrome + 7
                Noonan Syndrome 11 1
                Noonan Syndrome 12 1
                Noonan syndrome 1 10
                Noonan syndrome 10 1
                Noonan syndrome 2 1
                Noonan syndrome 3 6
                Noonan syndrome 4 1
                Noonan syndrome 5 2
                Noonan syndrome 6 1
                Noonan syndrome 7 1
                Noonan syndrome 8 10
                Noonan syndrome 9 8
                neurofibromatosis-Noonan syndrome 2
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.