Noonan Syndrome malady

NIH Rare Diseases: Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Characteristics of the syndrome include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects, bleeding problems, skeletal malformations, and developmental delay. Noonan syndrome may be caused by mutations in any one of several genes including the PTPN11, KRAS, RAF1, SOS1, NRAS and BRAF genes. It is sometimes referred to as a specific subtype based on the specific, mutated gene that causes the syndrome in an affected individual. It is typically inherited in an autosomal dominant manner, although in many individuals with Noonan syndrome, the mutation occurs for the first time and neither of the parents has the condition.³⁰

MalaCards: Noonan Syndrome, also known as pseudo-ullrich-turner syndrome, is related to turner syndrome and neurofibromatosis-noonan syndrome. An important gene associated with Noonan Syndrome is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are Pathway_PA165959425 and Development_EGFR signaling via small GTPases. The compounds threonine and phenylalanine have been mentioned in the context of this disorder. Affiliated tissues include heart, myeloid and t cells, and related mouse phenotypes are respiratory system and liver/biliary system.

Genetics Home Reference: Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial characteristics, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.¹⁷

Wikipedia: Noonan Syndrome (NS) is a relatively common autosomal dominant congenital disorder considered to be a...⁴⁴ more...

GeneReviews summary for noonan

Aliases & Descriptions:

noonan syndrome 6 7 44 15 30 16 17 8 32 43 pseudo-ullrich-turner syndrome 44 30 17 female pseudo-turner syndrome 44 30 17 ullrich-noonan syndrome 44 30 17 male turner syndrome 44 30 17 turner syndrome in female with x chromosome 44 17 turner's phenotype, karyotype normal 44 17

familial turner syndrome 44 17 turner-like syndrome 44 17 turner's phenotype, karyotype normal (disorder) 6 noonan-ehmke syndrome 30 cardiomyopathies 43 turner syndrome 43 cardiomyopathy 44

Disease types for noonan syndrome family:

noonan syndrome 1	noonan syndrome 2
noonan syndrome 3	noonan syndrome 4
noonan syndrome 5	noonan syndrome 6

Diseases related to noonan syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 601)

id	Related Disease	Score	Top Affiliating Genes
1	turner syndrome	37.0	IGFBP3, IGF1, GH1, GHR, DMD
2	neurofibromatosis-noonan syndrome	33.7	PTPN11, NF1
3	neurofibromatosis	32.7	RAF1, HRAS, GHR, PTPN11, NF1, KRAS
4	noonan-like/multiple giant cell lesion syndrome	31.3	PTPN11, SOS1
5	noonan syndrome-like disorder	31.3	CBL, SHOC2
6	juvenile myelomonocytic leukemia	31.0	PTPN11, NF1
7	myopathy	30.8	CDKN3, MAPK1, IGFBP3, IGF1, HRAS, GH1
8	costello syndrome	30.5	BRAF, MAP2K2, MAP2K1, IGFBP3, IGF1, HRAS
9	leopard syndrome	29.7	BRAF, RAF1, CDKN3, MAP2K2, MAP2K1, HRAS
10	myelomonocytic leukemia	29.6	BRAF, RAF1, CDKN3, CBL, PTPN11, SPRED1
11	short stature	29.0	BRAF, RAF1, FGFR3, MAP2K2, MAP2K1, IGFBP3
12	aldosteronism	28.9	SERPINE1, RAF1, MAPK1, MAP2K1, IGF1, GH1
13	dmd-associated dilated cardiomyopathy	28.8	SERPINE1, IGF1, GH1, PTPN11, DMD, SRC
14	cardiofaciocutaneous syndrome	28.7	BRAF, RAF1, MAP2K2, MAP2K1, HRAS, PTPN11
15	dwarfism	28.5	FGFR2, FGFR3, MAP2K1, IGFBP3, IGF1, GH1
16	was-related disorders	28.4	BRAF, RAF1, MAP2K2, MAP2K1, IGF1, HRAS
17	myeloproliferative disorder	27.8	HRAS, PTPN11, PLAT, NF1, PDGFRB
18	ischemic heart disease	27.8	SERPINE1, MAPK1, IGF1, PLAT, NUDT6
19	lipodystrophy	27.6	SERPINE1, YWHAQ, CDC25C, IGFBP3, IGF1, GH1
20	hypertrophic cardiomyopathy	27.0	BRAF, RAF1, MAP2K2, MAP2K1, IGFBP3, IGF1
21	growth hormone deficiency	26.9	SERPINE1, IGFBP3, IGF1, GH1, GHR
22	scoliosis	26.8	FGFR3, IGF1, GH1, GHR, DMD, DCN
23	congenital heart defect	26.7	BRAF, RAF1, MAP2K2, MAP2K1, HRAS, PTPN11
24	hodgkin's lymphoma	26.6	BRAF, RAF1, CDC25C, CDKN3, FGFR3, MAPK1
25	acromegaly	26.4	SERPINE1, IGFBP3, IGF1, GH1, GHR, PLAT
26	hypothyroidism	26.3	SERPINE1, IGFBP3, IGF1, GH1, GHR, DMD
27	type 2 diabetes mellitus	25.7	SERPINE1, CDKN3, IGFBP3, IGF1, GH1, GHR
28	down syndrome	25.5	SERPINE1, CDC25C, CDKN3, FGFR3, IGF1, GH1
29	neuropathy	25.5	SERPINE1, FGFR2, MAPK1, IGF1, PTPN3, DMD
30	cataract	25.3	FGFR2, IGF1, F11, GHR, DMD, PLAT
31	acute myeloid leukemia	25.3	BRAF, RAF1, KAT6B, CDKN3, ARAF, MAP2K2
32	diabetes mellitus	25.3	SERPINE1, CDKN3, MAPK1, IGFBP3, IGF1, HRAS
33	rhabdomyosarcoma	25.2	CDKN3, FGFR3, MAP2K2, MAPK1, MAP2K1, IGF1
34	systemic lupus erythematosus	25.2	SERPINE1, CDKN3, IGF1, CBL, GHR, PTPN6
35	blindness	25.1	SERPINE1, CDKN3, IGFBP3, IGF1, HRAS, GH1
36	lupus erythematosus	25.0	SERPINE1, RAF1, CDKN3, IGF1, CBL, GHR
37	hyperthyroidism	24.9	SERPINE1, IGFBP3, IGF1, GH1, GHR, PLAT
38	hypertension	24.9	SERPINE1, RAF1, MPZL1, CDKN3, MAPK1, IGFBP3
39	insulin resistance	24.9	SERPINE1, YWHAQ, CDC25C, CDKN3, MAPK1, MAP2K1
40	renal cell carcinoma	24.9	BRAF, RAF1, FGFR2, MAP2K1, HRAS, PDGFRB
41	acute myocardial infarction	24.8	SERPINE1, MAPK1, IGFBP3, IGF1, F11, PLAT
42	liver cirrhosis	24.7	SERPINE1, RAF1, IGFBP3, IGF1, GH1, GHR
43	acute lymphoblastic leukemia	24.4	SERPINE1, BRAF, CDKN3, MAPK1, IGFBP3, IGF1
44	hepatitis c	24.4	BRAF, RAF1, ARAF, MAPK1, MAP2K1, IGFBP3
45	myeloid leukemia	24.4	BRAF, RAF1, KAT6B, CDC25C, CDKN3, ARAF
46	lymphoblastic leukemia	24.1	SERPINE1, BRAF, CDKN3, MAPK1, IGFBP3, IGF1
47	twinning	23.7	SERPINE1, FGFR2, FGFR3, IGFBP3, IGF1, GH1
48	anemia	23.7	FGFR3, MAP2K2, IGFBP3, IGF1, CBL, GH1
49	myocardial infarction	23.7	SERPINE1, MAPK1, IGFBP3, IGF1, F11, GH1
50	ischemia	23.1	SERPINE1, RAF1, YWHAQ, CDKN3, FGFR2, MAPK1

Approved drugs:

Drug clinical trials:

Genetic tests related to noonan syndrome:

id	Genetic test	Affiliating Genes
1	Noonan Syndrome clinical/research	BRAF, RAF1, MAP2K1, PTPN11, NRAS, KRAS, SOS1, HGF

MalaCards organs/tissues related to noonan syndrome:

²²

MGI Mouse Phenotypes related to noonan syndrome:

²⁵ (show all 27)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	9.4	CBL, F11, DTX1, PTPN6, DMD, SPRED1
2	liver/biliary system phenotype	MP:0005370	9.0	NF1, DMD, DTX1, GHR, GH1, F11
3	endocrine/exocrine gland phenotype	MP:0005379	8.8	KRAS, NF1, DMD, PTPN6, GHR, GNAI2
4	craniofacial phenotype	MP:0005382	8.7	NF1, PDGFRB, SOS1, CSK, GAB1, SPRED1
5	pigmentation phenotype	MP:0001186	8.7	NF1, SRC, PTPN6, PTPN11, CBL, FGFR2
6	integument phenotype	MP:0010771	8.0	SRC, NRAS, NF1, KRAS, SHOC2, SOS1
7	embryogenesis phenotype	MP:0005380	7.9	NF1, KRAS, SHOC2, SOS1, CSK, GAB1
8	tumorigenesis	MP:0002006	7.8	NF1, KRAS, STAT3, DCN, RRAS, NRAS
9	hematopoietic system phenotype	MP:0005397	7.7	PTPN7, PTPN6, DMD, SPRED1, SPRED2, NRAS
10	hearing/vestibular/ear phenotype	MP:0005377	7.7	PTPN11, DMD, PLAT, NF1, CSK, CBL
11	limbs/digits/tail phenotype	MP:0005371	7.6	KRAS, NF1, NRAS, SPRED2, SPRED1, SRC
12	reproductive system phenotype	MP:0005389	7.5	STAT3, KRAS, SRC, DMD, PTPN6, PTPN11
13	adipose tissue phenotype	MP:0005375	7.4	GHR, PTPN11, DMD, PDGFRB, STAT3, GH1
14	nervous system phenotype	MP:0003631	7.2	SRC, SPRED1, NF1, KRAS, STAT3, CSK
15	renal/urinary system phenotype	MP:0005367	7.0	NF1, PDGFRB, KRAS, STAT3, DCN, DMD
16	digestive/alimentary phenotype	MP:0005381	6.8	NRAS, PLAT, PDGFRB, KRAS, STAT3, DCN
17	muscle phenotype	MP:0005369	6.8	DMD, PLAT, NF1, PDGFRB, KRAS, STAT3
18	skeleton phenotype	MP:0005390	6.4	PTPN6, DMD, SRC, SPRED2, PLAT, STAT3
19	normal phenotype	MP:0002873	6.3	PTPN11, DMD, NRAS, NF1, PDGFRB, KRAS
20	vision/eye phenotype	MP:0005391	6.0	PLAT, NF1, PDGFRB, KRAS, STAT3, DCN
21	cardiovascular system phenotype	MP:0005385	5.6	PDGFRB, NF1, PLAT, NRAS, DMD, KRAS
22	behavior/neurological phenotype	MP:0005386	5.4	DMD, SRC, SPRED1, PLAT, NF1, KRAS
23	mortality/aging	MP:0010768	5.3	SERPINE1, F11, CBL, GNAI2, MAPK1, FGFR3
24	immune system phenotype	MP:0005387	5.0	BRAF, RAF1, PAG1, MRAS, ARAF, KRAS
25	homeostasis/metabolism phenotype	MP:0005376	4.7	FGFR3, PLAT, NF1, PDGFRB, KRAS, SHOC2
26	cellular phenotype	MP:0005384	4.4	PTPN11, DTX1, CBL, GNAI2, IGF1, MAP2K1
27	growth/size phenotype	MP:0005378	2.4	SERPINE1, F11, HRAS, GH1, GHR, PTPN3

Articles related to noonan syndrome:

(show top 50)    (show all 133)

id	Title	Authors	Year	Affiliating Genes
1	Disruption of the histone acetyltransferase MYST4 lea ds to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in hum ans and mice. (21804188)	Kraft M.... Thiel C.T.	2011	KAT6B
2	SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations. (21387466)	Lepri F.... Tartaglia M.	2011	SOS1
3	A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey. (20718194)	Demir K.... BAPber E.	2010	PTPN11
4	Imbalance of plasminogen activator inhibitor type-1 ( PAI-1) and tissue plasminogen activator (t-PA) activity in patients with Noonan syndrome. (20686427)	Mehta P.... Parker R.I.	2010	PLAT, SERPINE1
5	Noonan syndrome, the SOS1 gene and embryonal rhabdomy osarcoma. (20461756)	Jongmans M.C.... Hoogerbrugge N.	2010	RAF1, HRAS, PTPN11
6	Giant cell lesions in noonan syndrome: case report an d review of the literature. (20383758)	Bufalino A.... Coletta R.D.	2010	PTPN11
7	The language phenotype of children and adolescents wi th Noonan syndrome. (20543023)	Pierpont E.I.... Seidenberg M.S.	2010	RAF1, BRAF, PTPN11
8	Noonan syndrome and systemic lupus erythematosus in a patient with a novel KRAS mutation. (20810036)	Leventopoulos G.... Fryssira H.	2010	KRAS
9	Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations. (20954246)	Derbent M.... A9zbek N.	2010	PTPN11
10	Negative regulation of Stat3 by activating PTPN11 mut ants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonoc ytic leukemia. (19509418)	Zhang W.... Shou W.	2009	PTPN11, STAT3
11	Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. (19396835)	Kratz C.P.... Zenker M.	2009	FGFR3, FGFR2, HRAS
12	Noonan syndrome caused by germline KRAS mutation in T aiwan: report of two patients and a review of the literature. (18958496)	Lo F.S.... Lin S.P.	2009	HRAS, PTPN11
13	Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. (19449407)	Thiel C.... Rauch A.	2009	PTPN11, NF1
14	SOS1 mutations are rare in human malignancies: implications for Noonan Syndrome patients. (18064648)	Swanson K.D.... Neel B.G.	2008	RAF1, HRAS, PTPN11
15	SOS1 mutation: a new cause of Noonan syndrome (18394382)	Serrano-Martin M.M.... Lopez-Siguero J.P.	2008	HRAS, PTPN11, SOS1
16	Noonan syndrome: from phenotype to growth hormone therapy (18797587)	Malaquias A.C.... Jorge A.A.	2008	SOS1
17	Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations. (18758896)	Lo F.S.... Kuo M.C.	2008	PTPN11
18	Duplication of chromosome band 12q24.11q24.23 results in apparent Noonan syndrome. (18348260)	Shchelochkov O.A.... Sutton V.R.	2008	HRAS, PTPN11, SOS1
19	Impaired Sertoli cell function in males diagnosed with Noonan syndrome. (19189703)	Marcus K.A.... Noordam C.	2008	PTPN11
20	Granular cell tumor of the scrotum in a child with Noonan syndrome. (18577039)	Sidwell R.U.... Green J.S.	2008	PTPN11
21	Electrocardiography in Noonan syndrome PTPN11 gene mutation--phenotype characterization. (18203203)	Croonen E.A.... Draaisma J.M.	2008	PTPN11
22	Therapy-related acute myeloid leukemia in a child with Noonan syndrome and clonal duplication of the germline PTPN11 mutation. (16078230)	Chantrain C.F.... Brichard B.	2007	PTPN11
23	Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome. (17661820)	Lee S.T.... Lee H.J.	2007	HRAS, MAP2K1, BRAF
24	Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. (17704260)	Nava C.... Cave H.	2007	MAP2K1, BRAF, MAP2K2
25	Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (17497712)	Becker K.... Tartaglia M.	2007	PTPN11
26	Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation (17546245)	Ferreira L.V.... Jorge A.A.	2007	PTPN11
27	Respiratory failure, juvenile myelomonocytic leukemia, and neonatal Noonan syndrome. (17414570)	Cheong J.L.... Moorkamp M.H.	2007	PTPN11
28	The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. (17515436)	Sznajer Y.... Verloes A.	2007	PTPN11
29	Germline KRAS mutations cause Noonan syndrome. (16474405)	Schubbert S.... Kratz C.P.	2006	HRAS, KRAS
30	Noonan syndrome: relationships between genotype, growth, and growth factors. (16263833)	Limal J.M.... Le Bouc Y.	2006	PTPN11
31	Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling. (16461457)	UhlAcn P.... Bennett A.M.	2006	PTPN11, CDKN3, NUDT6
32	Noonan syndrome and related disorders: alterations in growth and puberty. (17177115)	Noonan J.A.	2006	PTPN11
33	Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? (16804314)	Kitsiou-Tzeli S.... Nicolaidou P.	2006	PTPN11
34	Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. (16773572)	Carta C.... Tartaglia M.	2006	HRAS, KRAS, RRAS
35	Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations. (16399795)	Oishi K.... Gelb B.D.	2006	PTPN11
36	PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome. (15985475)	Binder G.... Wittekindt N.E.	2005	PTPN11, GHR
37	Prenatal DNA diagnosis of Noonan syndrome in a fetus with massive hygroma colli, pleural effusion and ascites. (16032767)	SchlA1ter G.... Pauer H.U.	2005	PTPN11
38	Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling. (16166557)	Krenz M.... Robbins J.	2005	MAPK1, PTPN11
39	Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia. (15834506)	Niihori T.... Matsubara Y.	2005	PTPN11, CDKN3
40	A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)	Yoshida R.... Ogata T.	2004	PTPN11
41	A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome. (15470362)	Sarkozy A.... Dallapiccola B.	2004	PTPN11
42	Clinical evaluation of recombinant human growth hormone in Noonan syndrome. (15004410)	Ogawa M.... Yoshimoto M.	2004	GH1
43	Genotype-phenotype correlations in Noonan syndrome. (15001945)	Zenker M.... Rauch A.	2004	PTPN11
44	Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio- cutaneous syndrome. (12634870)	Musante L.... Kalscheuer V.M.	2003	PTPN11
45	PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. (12161469)	Kosaki K.... Ogata T.	2002	PTPN11, ACP1, PTPN7
46	The first Noonan syndrome gene: PTPN11, which encodes the protein tyrosine phosphatase SHP-2. (12357036)	Allanson J.	2002	PTPN11
47	Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form. (10982482)	van der Burgt I.... Brunner H.	2000	NS2
48	Mapping a gene for Noonan syndrome to the long arm of chromosome 12. (7894486)	Jamieson C.R.... Mariman E.	1994	PTPN11
49	Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. (8317503)	Tassabehji M.... Thakker N.	1993	NF1
50	Noonan's syndrome: abnormalities of the growth hormone/IGF-I axis and the response to treatment with human biosynthetic growth hormone. (2058394)	Ahmed M.L.... Dunger D.B.	1991	IGF1

Genes related to noonan syndrome according to GeneCards:

(show top 50)    (show all 52)

id	Symbol	Description	Score	GeneCards Section Context
1	PTPN11	protein tyrosine phosphatase, non-receptor type 11	11.1	Summaries, Publications, Aliases & Descriptions
2	SOS1	son of sevenless homolog 1 (Drosophila)	11.1	Summaries, Publications
3	RAF1	v-raf-1 murine leukemia viral oncogene homolog 1	11.1	Summaries, Publications
4	NRAS	neuroblastoma RAS viral (v-ras) oncogene homolog	11.1	Publications, Summaries
5	MAP2K2	mitogen-activated protein kinase kinase 2	11.1	Summaries, Publications
6	CBL	Cbl proto-oncogene, E3 ubiquitin protein ligase	11.1	Publications, Summaries
7	NS2	Noonan syndrome 2	11.1	Aliases & Descriptions, Publications
8	NF1	neurofibromin 1	11.0	Publications
9	BRAF	v-raf murine sarcoma viral oncogene homolog B1	11.0	Publications
10	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	11.0	Publications
11	HRAS	v-Ha-ras Harvey rat sarcoma viral oncogene homolog	11.0	Publications
12	ACP1	acid phosphatase 1, soluble	11.0	Publications
13	SHOC2	soc-2 suppressor of clear homolog (C. elegans)	11.0	Publications
14	MAP2K1	mitogen-activated protein kinase kinase 1	11.0	Publications
15	IGFBP3	insulin-like growth factor binding protein 3	11.0	Publications
16	GHR	growth hormone receptor	11.0	Publications
17	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications
18	MAPK1	mitogen-activated protein kinase 1	11.0	Publications
19	PTPN7	protein tyrosine phosphatase, non-receptor type 7	11.0	Publications
20	CSH2	chorionic somatomammotropin hormone 2	11.0
21	RRAS	related RAS viral (r-ras) oncogene homolog	11.0	Publications
22	DTX1	deltex homolog 1 (Drosophila)	11.0	Publications
23	RPL6	ribosomal protein L6	11.0	Publications
24	MRAS	muscle RAS oncogene homolog	11.0	Publications
25	ARAF	v-raf murine sarcoma 3611 viral oncogene homolog	11.0	Publications
26	DCN	decorin	11.0	Publications
27	SPRED1	sprouty-related, EVH1 domain containing 1	11.0	Publications
28	PTPN6	protein tyrosine phosphatase, non-receptor type 6	11.0	Publications
29	YWHAQ	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	11.0	Publications
30	SPRED2	sprouty-related, EVH1 domain containing 2	11.0	Publications
31	CDC25C	cell division cycle 25 homolog C (S. pombe)	11.0	Publications
32	SOS2	son of sevenless homolog 2 (Drosophila)	11.0	Publications
33	MPZL1	myelin protein zero-like 1	11.0
34	KAT6B	K(lysine) acetyltransferase 6B	11.0	Publications
35	NUDT6	nudix (nucleoside diphosphate linked moiety X)-type motif 6	11.0	Publications
36	GNAI2	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	11.0	Publications
37	EPS8	epidermal growth factor receptor pathway substrate 8	11.0	Publications
38	PAG1	phosphoprotein associated with glycosphingolipid microdomains 1	11.0	Publications
39	F11	coagulation factor XI	11.0
40	GAB1	GRB2-associated binding protein 1	11.0
41	FGFR3	fibroblast growth factor receptor 3	11.0	Publications
42	PDGFRB	platelet-derived growth factor receptor, beta polypeptide	11.0	Publications
43	CSK	c-src tyrosine kinase	11.0	Publications
44	PTPN3	protein tyrosine phosphatase, non-receptor type 3	11.0
45	GH1	growth hormone 1	11.0	Publications
46	STAT3	signal transducer and activator of transcription 3 (acute-phase response factor)	11.0	Publications
47	FGFR2	fibroblast growth factor receptor 2	11.0	Publications
48	PLAT	plasminogen activator, tissue	11.0	Publications
49	CDKN3	cyclin-dependent kinase inhibitor 3	11.0	Publications
50	SERPINE1	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	11.0	Publications

Pathways related to noonan syndrome according to GeneDecks:

(show top 50)    (show all 376)

id	Pathway	Score	Top Affiliating Genes
1	Pathway_PA16595942534	10.2	BRAF, RAF1, MAP2K2, MAPK1, MAP2K1, HRAS
2	Development_EGFR signaling via small GTPases41	10.1	MAP2K1, CBL, HRAS, EPS8, MAPK1, RAF1
3	G-protein signaling_Ras family GTPases in kinase cascades (scheme)41	10.1	MAP2K2, MAPK1, MAP2K1, HRAS, NRAS, KRAS
4	G-protein signaling Ras family GTPases in kinase cascades (scheme)10	10.0	BRAF, RAF1, MAP2K2, MAPK1, MAP2K1, HRAS
5	Sorafenib Pharmacodynamics34	9.9	BRAF, RAF1, MAPK1, MAP2K1, HRAS, PDGFRB
6	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways37	9.9	BRAF, RAF1, ARAF, MAP2K2, MAPK1, MAP2K1
7	Endometrial cancer20	9.9	BRAF, RAF1, MAP2K2, MAPK1, MAP2K1, HRAS
8	Renal cell carcinoma20	9.9	NRAS, SOS1, SOS2, GAB1, HRAS, MAP2K2
9	Bladder cancer20	9.8	MAP2K2, MAPK1, MAP2K1, HRAS, NRAS, KRAS
10	Development Neurotrophin family signaling10	9.7	BRAF, RAF1, MAP2K2, MAPK1, MAP2K1, HRAS
11	NGF Pathway36	9.5	BRAF, RAF1, MRAS, MAP2K2, MAPK1, MAP2K1
12	IGF1R Signaling36	9.5	YWHAQ, MRAS, MAP2K2, MAPK1, MAP2K1, IGF1
13	Development_FGFR signaling pathway41	9.5	GAB1, EPS8, SOS2, SOS1, RAF1, MAP2K2
14	FLT3 Signaling36	9.4	BRAF, RAF1, MRAS, MAP2K2, MAPK1, MAP2K1
15	VEGF and S-1P Signaling36	9.2	BRAF, RAF1, MRAS, MAP2K2, MAPK1, MAP2K1
16	Development_EPO-induced Jak-STAT pathway41	9.2	SOS2, STAT3, SRC, PTPN6, MAPK1, CBL
17	UVC-Induced MAPK Signaling36	9.2	RRAS, BRAF, RAF1, MRAS, MAP2K2, MAPK1
18	Pathways in cancer20	9.1	ARAF, FGFR2, FGFR3, MAPK1, CBL, NRAS
19	Development_FGF-family signaling41	9.1	RAF1, FGFR2, FGFR3, MAP2K2, MAPK1, MAP2K1
20	CNTF Signaling36	9.1	RAF1, MRAS, MAP2K2, MAPK1, MAP2K1, HRAS
21	VEGF Pathway36	9.1	RAF1, MRAS, MAP2K2, MAPK1, MAP2K1, HRAS
22	G-protein signaling M-RAS regulation pathway10	9.0	ARAF, MAP2K2, MAPK1, MAP2K1, SRC, NF1
23	G-protein signaling_M-RAS regulation pathway41	9.0	BRAF, RAF1, MRAS, ARAF, MAP2K2, MAPK1
24	FGF Pathway36	9.0	MRAS, FGFR2, FGFR3, MAP2K2, MAPK1, MAP2K1
25	HGF Pathway36	8.9	RAF1, MRAS, MAP2K2, MAPK1, MAP2K1, HRAS
26	Ras Pathway36	8.9	NRAS, NUDT6, SOS1, SOS2, RRAS, HRAS
27	P2Y Receptor Signaling36	8.9	BRAF, RAF1, MRAS, FGFR2, FGFR3, MAP2K2
28	Pathway_PA16598005034	8.8	BRAF, RAF1, MRAS, ARAF, FGFR2, FGFR3
29	Development_G-Proteins mediated regulation MARK-ERK signaling41	8.8	BRAF, RAF1, MRAS, MAP2K2, MAPK1, MAP2K1
30	Signaling in Gap Junctions36	8.8	BRAF, RAF1, MRAS, MAP2K2, MAPK1, MAP2K1
31	ERK5 Signaling36	8.8	YWHAQ, MRAS, FGFR3, GNAI2, HRAS, GH1
32	NFAT and Cardiac Hypertrophy36	8.7	NRAS, SOS1, SOS2, RRAS, SRC, HRAS
33	Breast Cancer Regulation by Stathmin136	8.7	SOS1, SOS2, RRAS, NUDT6, GNAI2, MAP2K1
34	G-protein signaling_G-Protein alpha-i signaling cascades41	8.7	STAT3, SOS1, SOS2, SRC, HRAS, GNAI2
35	ErbB signaling pathway20	8.6	HRAS, SRC, NRAS, KRAS, SOS1, SOS2
36	MAPK signaling pathway20	8.5	BRAF, RAF1, MRAS, FGFR2, FGFR3, MAP2K2
37	FAK1 Signaling36	8.4	RRAS, CSK, BRAF, RAF1, MRAS, MAP2K2
38	Rac1 Pathway36	8.4	RAF1, MRAS, FGFR2, FGFR3, MAP2K2, MAPK1
39	Development_Prolactin receptor signaling41	8.3	RAF1, MAP2K2, MAPK1, MAP2K1, CBL, HRAS
40	Development Growth hormone signaling via PI3K/AKT and MAPK cascades10	8.3	RAF1, MAPK1, MAP2K1, HRAS, GH1, GHR
41	Erythropoietin Pathway36	8.2	HRAS, PTPN6, SRC, NRAS, SOS1, SOS2
42	Signaling Involved in Cardiac Hypertrophy36	8.2	MAP2K2, MAPK1, MAP2K1, IGF1, GNAI2, HRAS
43	Renin-Angiotensin Pathway36	8.1	SOS2, RRAS, SOS1, RAF1, MRAS, FGFR2
44	Activation of cAMP-Dependent PKA36	8.0	RAF1, YWHAQ, MRAS, FGFR2, MAP2K2, MAPK1
45	Cell adhesion_PLAU signaling41	7.9	GAB1, SERPINE1, RAF1, MAP2K2, MAPK1, MAP2K1
46	Estrogen Pathway36	7.1	NRAS, PDGFRB, NUDT6, SOS1, SOS2, RRAS
47	Activation of PKA through GPCR36	6.9	GNAI2, HRAS, GH1, PTPN3, SRC, NRAS
48	ERK Signaling36	6.7	STAT3, NUDT6, SOS1, SOS2, RRAS, PDGFRB
49	GPCR Pathway36	6.5	NUDT6, SOS1, SOS2, RRAS, STAT3, PDGFRB
50	cAMP Pathway36	6.5	BRAF, RAF1, YWHAQ, MRAS, FGFR2, FGFR3

Compounds related to noonan syndrome according to GeneDecks:

(show top 50)    (show all 193)

id	Compound	Score	Top Affiliating Genes
1	threonine32	9.8	RAF1, CDC25C, FGFR2, FGFR3, MAP2K2, RRAS
2	phenylalanine32	9.5	DMD, GAB1, PTPN6, CBL, ARAF, FGFR3
3	rapamycin32 42	10.3	BRAF, RAF1, HRAS, SRC, NF1, PDGFRB
4	glucose32	9.2	GAB1, DMD, BRAF, FGFR2, PTPN6, NUDT6
5	gp 13032	8.8	MAP2K1, HRAS, GHR, PTPN3, PTPN11, PTPN6
6	gnrh32	8.8	CSK, MAP2K1, IGF1, RAF1, GH1, GHR
7	agar32	8.7	NRAS, SRC, PDGFRB, MAP2K1, FGFR2, BRAF
8	lactacystin32	8.7	GHR, PTPN3, STAT3, MAPK1, CDKN3, RAF1
9	sb 20358032 42	9.7	BRAF, CDC25C, GH1, SRC, PTPN11, ACP1
10	arginine32	8.6	MAP2K1, FGFR3, CDC25C, DMD, GH1, NF1
11	aspartate32	8.5	GH1, GHR, HRAS, RAF1, SRC, BRAF
12	ly29400232	8.5	CDKN3, MAPK1, MAP2K1, HRAS, PTPN11, SRC
13	erlotinib32 34 9 9	11.4	STAT3, CDKN3, MAPK1, IGF1, PDGFRB, KRAS
14	cytochalasin d32 42	9.4	ACP1, RAF1, SRC, PTPN6, PTPN3, MAPK1
15	geldanamycin32 9 9	10.4	BRAF, STAT3, SRC, CBL, MAPK1, CDC25C
16	h2o232	8.3	CDKN3, FGFR2, MAP2K1, CBL, GH1, PTPN3
17	phenylarsine oxide32	8.3	CDC25C, PTPN6, CDKN3, PTPN3, PTPN11, SRC
18	sodium orthovanadate32	8.3	RAF1, CDC25C, CDKN3, MAPK1, PTPN3, PTPN11
19	thymidine32 18	9.2	PTPN11, PTPN6, GH1, NUDT6, CSK, RAF1
20	imatinib32 34 9 9	11.2	MAP2K1, CBL, BRAF, RAF1, FGFR3, MAPK1
21	herbimycin a32 42	9.0	ACP1, CSK, HRAS, PTPN11, PTPN6, SRC
22	vanadate32	7.9	ACP1, STAT3, PDGFRB, SRC, PTPN11, PTPN3
23	paraffin32	7.9	NF1, PDGFRB, KRAS, GH1, BRAF, FGFR2
24	ag 147832	7.8	PDGFRB, STAT3, DCN, CSK, SRC, PTPN11
25	paclitaxel32 34 9 9	10.8	FGFR2, CDC25C, RAF1, STAT3, BRAF, PTPN3
26	oligonucleotide32	7.5	NRAS, DMD, PTPN6, HRAS, PTPN11, GH1
27	tamoxifen32 34 9 9	10.5	RRAS, SRC, CSK, STAT3, PLAT, GHR
28	progesterone32 42 9 18 9	11.4	CSK, SERPINE1, HRAS, GH1, IGFBP3, MAP2K1
29	estrogen32	7.4	RRAS, ARAF, CSK, DCN, ACP1, PDGFRB
30	cisplatin32 34 9 9	10.4	CDC25C, BRAF, RAF1, FGFR2, MAPK1, MAP2K1
31	heparin32 9 18 9	10.4	FGFR2, RAF1, SERPINE1, DCN, DMD, SRC
32	cholesterol32 9 18 9	10.1	PTPN3, CSK, DCN, SERPINE1, PAG1, CDC25C
33	dexamethasone32 42 34 9 9	11.0	SERPINE1, PTPN11, SRC, DCN, FGFR3, MAPK1
34	cycloheximide32	7.0	CDKN3, MAP2K1, STAT3, MAP2K2, IGFBP3, IGF1
35	phosphoinositide32	6.8	CDKN3, CDC25C, RAF1, BRAF, MAP2K2, ACP1
36	nitric oxide32 9 18 9	9.8	PTPN11, PTPN6, DMD, DCN, NUDT6, SERPINE1
37	cysteine32	6.7	FGFR3, FGFR2, CDC25C, PAG1, RAF1, MAP2K1
38	pd 98,05932	6.7	SERPINE1, BRAF, RAF1, FGFR2, MAP2K2, MAPK1
39	glutamate32	6.7	IGFBP3, CBL, MAPK1, PTPN3, PTPN11, SRC
40	wortmannin32 42	7.7	PTPN11, SRC, PDGFRB, KRAS, ACP1, STAT3
41	retinoic acid32 42 18	8.3	NUDT6, DCN, STAT3, ACP1, KRAS, PDGFRB
42	lipid32	6.2	FGFR2, FGFR3, CBL, PDGFRB, NF1, PTPN3
43	genistein32 9 18 9	9.2	SERPINE1, RAF1, CDC25C, CDKN3, FGFR2, DCN
44	alanine32	6.1	IGFBP3, MAP2K1, ACP1, PDGFRB, NF1, SRC
45	phosphotyrosine32	6.1	ACP1, STAT3, CSK, EPS8, GAB1, PDGFRB
46	adenylate32	6.0	PTPN3, SERPINE1, CDKN3, MAPK1, IGFBP3, SRC
47	phosphatidylinositol32	5.9	MAP2K1, RRAS, GAB1, CDKN3, ARAF, FGFR2
48	vegf32	5.3	MAP2K1, IGFBP3, IGF1, HRAS, GH1, PTPN11
49	tyrosine32	3.5	SRC, EPS8, GAB1, RRAS, CSK, NRAS
50	serine32	2.7	GAB1, RRAS, SERPINE1, BRAF, RAF1, CDC25C

Cellular components related to noonan syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	insulin-like growth factor binding protein complex	GO:016942	10.3	IGFBP3, IGF1
2	internal side of plasma membrane	GO:009898	9.9	ACP1, PTPN7, PTPN3, MAP2K2
3	late endosome	GO:005770	9.1	SRC, MAP2K1, MAPK1, MAP2K2
4	cytoplasm	GO:005737	6.5	PTPN6, SPRED1, PLAT, NF1, PDGFRB, SHOC2
5	cytosol	GO:005829	6.4	BRAF, PTPN6, DMD, SRC, RPL6, STAT3
6	nucleus	GO:005634	6.1	GHR, DTX1, PTPN6, SRC, SPRED1, NF1
7	plasma membrane	GO:005886	5.7	GHR, SRC, SPRED1, NRAS, PDGFRB, KRAS

Biological processes related to noonan syndrome according to GeneDecks:

(show all 45)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of Rac protein signal transduction	GO:035022	10.6	KRAS, NRAS, HRAS
2	regulation of early endosome to late endosome transport	GO:2000641	10.6	MAP2K1, MAPK1, MAP2K2
3	regulation of Golgi inheritance	GO:090170	10.5	MAP2K1, MAPK1, MAP2K2
4	regulation of synaptic transmission, GABAergic	GO:032228	10.5	KRAS, NF1, NRAS, HRAS
5	regulation of long-term neuronal synaptic plasticity	GO:048169	10.5	KRAS, NF1, NRAS, HRAS
6	activation of MAPKK activity	GO:000186	10.5	NRAS, GNAI2, MAP2K2, RAF1
7	regulation of stress-activated MAPK cascade	GO:032872	10.5	MAP2K1, MAPK1, MAP2K2
8	striated muscle cell differentiation	GO:051146	10.5	HRAS, NRAS, KRAS
9	visual learning	GO:008542	10.5	KRAS, NF1, NRAS, HRAS
10	positive regulation of Ras protein signal transduction	GO:046579	10.4	MAP2K1, IGF1, SHOC2
11	activation of MAPK activity	GO:000187	10.3	PTPN11, GHR, MAP2K1, MAPK1, MAP2K2
12	regulation of protein deacetylation	GO:090311	10.2	SPRED1, SPRED2
13	actin cytoskeleton organization	GO:030036	10.2	KRAS, NF1, NRAS, HRAS, MRAS
14	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	10.1	GH1, IGF1, IGFBP3
15	positive regulation of tyrosine phosphorylation of Stat5 protein	GO:042523	10.1	GHR, GH1, IGF1
16	bone maturation	GO:070977	10.0	FGFR3, GH1
17	growth hormone receptor signaling pathway	GO:060396	9.9	STAT3, GHR, GH1
18	MAPK cascade	GO:000165	9.9	KRAS, NF1, NRAS, HRAS, MAP2K1, MAPK1
19	positive regulation of phosphatidylinositol 3-kinase cascade	GO:014068	9.9	PDGFRB, PTPN6, GH1, CBL, IGF1
20	regulation of multicellular organism growth	GO:040014	9.8	STAT3, PTPN11, GHR, IGF1, FGFR2
21	JAK-STAT cascade involved in growth hormone signaling pathway	GO:060397	9.8	STAT3, PTPN6, GHR, GH1, MAPK1
22	small GTPase mediated signal transduction	GO:007264	9.8	SOS2, SOS1, KRAS, NRAS, HRAS, MAP2K1
23	positive regulation of tyrosine phosphorylation of Stat3 protein	GO:042517	9.8	FGFR3, GH1, GHR
24	JAK-STAT cascade	GO:007259	9.7	STAT3, GHR, GH1, FGFR3
25	synaptic transmission	GO:007268	9.7	RRAS, ACP1, HRAS, GNAI2, MAPK1, RAF1
26	peptidyl-tyrosine dephosphorylation	GO:035335	9.7	PTPN11, PTPN7, PTPN3, CDKN3, CDC25C
27	positive regulation of MAPK cascade	GO:043410	9.6	GAB1, HRAS, IGF1, IGFBP3, FGFR3, FGFR2
28	positive regulation of ERK1 and ERK2 cascade	GO:070374	9.6	PDGFRB, HRAS, FGFR3, FGFR2, BRAF
29	leukocyte migration	GO:050900	9.5	SOS1, KRAS, NRAS, SRC, PTPN6, PTPN11
30	response to glucocorticoid stimulus	GO:051384	9.4	KRAS, PLAT, GHR, MAP2K1, SERPINE1
31	platelet-derived growth factor receptor signaling pathway	GO:048008	9.4	PLAT, PDGFRB, GAB1
32	insulin receptor signaling pathway	GO:008286	9.2	PTPN11, NRAS, KRAS, SOS1, GAB1, HRAS
33	cell proliferation	GO:008283	9.2	GAB1, EPS8, STAT3, PTPN6, HRAS, GNAI2
34	positive regulation of cell proliferation	GO:008284	9.2	KRAS, PDGFRB, NRAS, PTPN6, HRAS, GNAI2
35	negative regulation of cell proliferation	GO:008285	9.1	CSK, HRAS, IGF1, IGFBP3, MAP2K1, FGFR2
36	axon guidance	GO:007411	9.0	RRAS, SOS2, SOS1, KRAS, NRAS, SRC
37	peptidyl-tyrosine phosphorylation	GO:018108	8.9	PDGFRB, SRC, PTPN6, FGFR3, FGFR2
38	Ras protein signal transduction	GO:007265	8.9	RRAS, MRAS, RAF1, MAP2K2, MAPK1, SOS1
39	T cell costimulation	GO:031295	8.8	CSK, SRC, PTPN6, PTPN11
40	nerve growth factor receptor signaling pathway	GO:048011	8.7	NRAS, KRAS, STAT3, SOS1, SOS2, SRC
41	platelet activation	GO:030168	8.6	CSK, SOS1, SRC, GNAI2, IGF1, MAPK1
42	epidermal growth factor receptor signaling pathway	GO:007173	8.3	GAB1, EPS8, CSK, SOS1, KRAS, NRAS
43	fibroblast growth factor receptor signaling pathway	GO:008543	8.2	HRAS, CBL, MAP2K1, MAPK1, MAP2K2, FGFR3
44	signal transduction	GO:007165	8.1	SRC, PDGFRB, STAT3, SOS1, EPS8, HRAS
45	blood coagulation	GO:007596	7.4	SRC, NRAS, PLAT, KRAS, SOS1, CSK

Molecular functions related to noonan syndrome according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein serine/threonine kinase inhibitor activity	GO:030291	10.2	SPRED1, SPRED2
2	phosphotyrosine binding	GO:001784	9.9	PTPN6, PTPN3, CBL
3	stem cell factor receptor binding	GO:005173	9.9	SPRED1, SPRED2
4	protein tyrosine phosphatase activity	GO:004725	9.3	PTPN6, PTPN11, PTPN7, PTPN3, CDKN3, CDC25C
5	protein kinase binding	GO:019901	9.3	STAT3, SPRED2, SPRED1, PTPN6, GHR, CDC25C
6	SH2 domain binding	GO:042169	9.2	PAG1, GHR, PTPN6, SRC
7	SH3/SH2 adaptor activity	GO:005070	9.0	GAB1, EPS8, SRC, PTPN11, PAG1
8	protein tyrosine kinase activity	GO:004713	8.4	CSK, PDGFRB, SRC, MAP2K1, MAP2K2, FGFR3
9	protein binding	GO:005515	1.2	GAB1, SPRED2, SPRED1, SRC, DMD, PTPN6