MCID: NNN003
MIFTS: 80

Noonan Syndrome malady

Genetic diseases, Rare diseases, Cardiovascular diseases, Eye diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
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Summaries for Noonan Syndrome

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MedlinePlus:33 Cardiomyopathy is the name for diseases of the heart muscle. these diseases enlarge your heart muscle or make it thicker and more rigid than normal. in rare cases, scar tissue replaces the muscle tissue. some people live long, healthy lives with cardiomyopathy. some people don't even realize they have it. in others, however, it can make the heart less able to pump blood through the body. this can cause serious complications, including heart failure abnormal heart rhythms heart valve problems sudden cardiac arrest heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. some types of cardiomyopathy run in families. in many people, however, the cause is unknown. treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. nih: national heart, lung, and blood institute

MalaCards based summary: Noonan Syndrome, also known as cardiomyopathy, is related to neurofibromatosis-noonan syndrome and noonan syndrome 1. An important gene associated with Noonan Syndrome is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are Immune response IL 6 signaling pathway and G protein signaling TC21 regulation pathway. The compounds trametinib and gw-5074 have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and bone, and related mouse phenotypes are pigmentation and digestive/alimentary.

Genetics Home Reference:21 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.

NIH Rare Diseases:42 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. last updated: 9/28/2012

Wikipedia:65 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder that affects both... more...

Descriptions from OMIM:46 613706, 163950, 609942, 613224, 611553 610733 more

GeneReviews summary for noonan

Aliases & Classifications for Noonan Syndrome

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Noonan Syndrome, Aliases & Descriptions:

Name: Noonan Syndrome 8 65 19 42 20 22 21 10 44 62
Cardiomyopathy 65 20 22 44 33
Pseudo-Ullrich-Turner Syndrome 65 42 21 62
Ullrich-Noonan Syndrome 65 42 21 62
Male Turner Syndrome 65 42 21 62
Turner's Phenotype, Karyotype Normal 8 65 21
 
Female Pseudo-Turner Syndrome 65 42 21
Familial Turner Syndrome 65 21 62
Noonan-Ehmke Syndrome 42 21 62
Turner Syndrome in Female with X Chromosome 65 21
Turner-Like Syndrome 65 21
Cardiomyopathies 62


Classifications:



Related Diseases for Noonan Syndrome

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Diseases in the Noonan Syndrome 1 family:

noonan syndrome Noonan Syndrome 2
Noonan Syndrome 3 Noonan Syndrome 4
Noonan Syndrome 5 Noonan Syndrome 6
Ptpn11-Related Noonan Syndrome Kras-Related Noonan Syndrome
Sos1-Related Noonan Syndrome Raf1-Related Noonan Syndrome
Nras-Related Noonan Syndrome Braf-Related Noonan Syndrome
Map2k1-Related Noonan Syndrome Noonan Syndrome 8
Noonan Syndrome 7

Diseases related to Noonan Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 944)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis-noonan syndrome31.8PTPN11, NF1
2noonan syndrome 131.8PTPN11
3neurofibromatosis31.5HRAS, NF1, KRAS, PTPN11
4juvenile myelomonocytic leukemia31.5PTPN11, NF1
5cardiofaciocutaneous syndrome30.9BRAF, MAP2K2, MAP2K1, KRAS
6pilocytic astrocytoma30.8NF1
7leopard syndrome30.7SHOC2, PTPN11, HRAS, RAF1, ACP1, SOS1
8hepatitis30.6KRAS, RAF1, GHR, SOS1
9hepatitis c30.5KRAS, RAF1, SOS1, PTPN11
10pheochromocytoma30.5ACP1, RIT1, NF1, RAF1, MAPK1
11leopard syndrome 130.5PTPN11
12pulmonary valve stenosis30.5PTPN11, SOS1
13acromegaly30.4IGFBP3, IGF1
14turner syndrome30.3GHR, IGFBP3, IGF1
15costello syndrome30.3HRAS, KRAS, MAP2K1, MAP2K2, BRAF, SOS1
16congenital heart disease30.2BRAF, MAP2K2, MAP2K1, HRAS, PTPN11, SOS1
17hypopituitarism30.2IGFBP3, IGF1, GHR
18obesity30.2GHR, ACP1, PTPN11, IGFBP3, IGF1
19hypothyroidism30.1IGF1, IGFBP3, GHR
20mental retardation30.1HRAS, NF1, GHR, BRAF, PTPN11
21anorexia nervosa30.0IGFBP3, GHR, IGF1
22diabetes mellitus30.0ACP1, GHR, IGF1, PTPN11, IGFBP3
23sarcoma29.9RAF1, NF1, KRAS, HRAS, NRAS, ACP1
24dwarfism29.9IGFBP3, MAP2K1, GHR, IGF1
25hypoglycemia29.9IGFBP3, IGF1, GHR
26growth hormone deficiency29.9IGF1, IGFBP3, GHR
27hyperglycemia29.8GHR, IGF1, IGFBP3, ACP1
28hyperinsulinism29.8GHR, IGF1, IGFBP3
29astrocytoma29.7ACP1, GHR, MAPK1, NF1, HRAS
30myeloid leukemia29.7NF1, PTPN11, ACP1, CBL, MAPK1, MAP2K1
31myeloma29.7IGF1, ACP1, MAPK1, MAP2K1, HRAS
32leukemia29.7KRAS, NF1, RAF1, NRAS, MAPK1, GHR
33panhypopituitarism29.7GHR, IGF1
34type 2 diabetes mellitus29.7IGF1, ACP1, IGFBP3, HRAS
35insulin resistance29.6GHR, ACP1, IGF1, IGFBP3, MAP2K1, MAPK1
36burkitt's lymphoma29.6ACP1, PTPN11, MAP2K1
37short stature29.6SOS1, PTPN11, IGF1, IGFBP3, BRAF, GHR
38lung adenocarcinoma29.6HRAS, BRAF, MAPK1, KRAS, RAF1
39ovarian cancer29.5KRAS, BRAF, RAF1, MAP2K1, MAPK1
40adenocarcinoma29.3HRAS, KRAS, GHR, ACP1, MAP2K1, RAF1
41colorectal cancer29.2BRAF, ACP1, KRAS, NF1, HRAS, RAF1
42dilated cardiomyopathy11.3
43peripartum cardiomyopathy11.1
44restrictive cardiomyopathy10.9
45arrhythmogenic right ventricular cardiomyopathy10.8
46stress cardiomyopathy10.8
47alcoholic cardiomyopathy10.8
48familial dilated cardiomyopathy10.8
49doxorubicin induced cardiomyopathy10.8
50myocarditis10.7

Graphical network of the top 20 diseases related to Noonan Syndrome:



Diseases related to noonan syndrome

Symptoms for Noonan Syndrome

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Clinical features from OMIM:

613706,163950,609942,613224,611553,610733

Drugs & Therapeutics for Noonan Syndrome

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Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome

Search NIH Clinical Center for Noonan Syndrome

Genetic Tests for Noonan Syndrome

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Genetic tests related to Noonan Syndrome:

id Genetic test Affiliating Genes
1 Noonan Syndrome20 SOS1
2 Cardiomyopathy (dilated) Multi-Gene Panels20
3 Cardiomyopathy (general) Multi-Gene Panels20
4 Cardiomyopathy (hypertrophic) Multi-Gene Panels20
5 Noonan's Syndrome22
6 Cardiomyopathy22

Anatomical Context for Noonan Syndrome

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MalaCards organs/tissues related to Noonan Syndrome:

32
Heart, Lung, Bone, Brain, Testes, Myeloid, Kidney, Cortex, Small intestine, Breast, Endothelial

Animal Models for Noonan Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Noonan Syndrome:

36 (show all 27)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.5BRAF, PTPN11, KRAS, NF1, CBL
2MP:00053819.0MAP2K1, SOS1, BRAF, MAP2K2, NRAS, KRAS
3MP:00053778.8CBL, NF1, MAP2K1, MAP2K2, KAT6B, PTPN11
4MP:00053678.7KRAS, NF1, GHR, BRAF, IGF1, HRAS
5MP:00053718.6IGF1, KAT6B, PTPN11, CBL, GHR, NRAS
6MP:00053758.5CBL, IGFBP3, IGF1, KAT6B, GHR, PTPN11
7MP:00053918.5BRAF, KAT6B, PTPN11, SOS1, KRAS, MAP2K2
8MP:00053828.5KAT6B, NF1, HRAS, PTPN11, RAF1, MAP2K1
9MP:00053708.2RAF1, NRAS, MAPK1, GHR, NF1, KRAS
10MP:00053898.1IGF1, PTPN11, BRAF, CBL, GHR, MAPK1
11MP:00053888.1HRAS, KRAS, BRAF, NF1, RAF1, IGF1
12MP:00053808.1NF1, BRAF, KRAS, NRAS, PTPN11, SHOC2
13MP:00028738.1RAF1, HRAS, NF1, NRAS, MAP2K1, MAP2K2
14MP:00020067.9MAP2K1, MAP2K2, MAPK1, BRAF, PTPN11, IGF1
15MP:00053977.8IGF1, PTPN11, SOS1, BRAF, CBL, GHR
16MP:00053797.8BRAF, GHR, PTPN11, IGF1, IGFBP3, CBL
17MP:00053907.7KAT6B, HRAS, NF1, MAP2K1, MAP2K2, GHR
18MP:00053867.6KRAS, NF1, HRAS, IGFBP3, BRAF, CBL
19MP:00053697.5SOS1, PTPN11, KAT6B, IGFBP3, CBL, IGF1
20MP:00036317.4BRAF, GHR, MAPK1, MAP2K1, RAF1, NF1
21MP:00053877.2NRAS, MAPK1, GHR, ACP1, BRAF, SOS1
22MP:00053857.2MAPK1, BRAF, SHOC2, IGF1, PTPN11, SOS1
23MP:00107717.0MAP2K2, IGF1, NRAS, MAP2K1, MAPK1, GHR
24MP:00053846.6CBL, SOS1, BRAF, KAT6B, IGF1, NRAS
25MP:00107686.6NRAS, KRAS, NF1, RAF1, MAP2K1, MAP2K2
26MP:00053766.6KRAS, MAP2K1, NRAS, MAPK1, GHR, CBL
27MP:00053785.7NF1, KRAS, HRAS, PTPN11, MAPK1, RAF1

Publications for Noonan Syndrome

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Articles related to Noonan Syndrome:

(show top 50)    (show all 528)
idTitleAuthorsYear
1
Noonan-syndrome: a considerably prevalent but neglected psychiatric differential diagnosis. (25093778)
2014
2
MAPK activation in mature cataract associated with Noonan syndrome. (24219368)
2013
3
Acute Lymphoblastic Leukemia Developing in a Patient With Noonan Syndrome Harboring a PTPN11 Germline Mutation. (24072241)
2013
4
Ulerythema ophryogenes and Noonan syndrome. (23473284)
2013
5
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis. (23918763)
2013
6
Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. (22848035)
2012
7
Ocular manifestations of Noonan syndrome. (21815719)
2012
8
Noonan syndrome presenting with neurogenic intermittent claudication. (23807040)
2012
9
Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. (21263000)
2011
10
Noonan syndrome: an anesthesiologist's perspective. (21860196)
2011
11
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. (19953625)
2010
12
Marathon of eponyms: 14 Noonan syndrome. (20946318)
2010
13
Noonan syndrome: crossed fused ectopic kidneys and focal segmental glomerulosclerosis-a rare association. (19437094)
2009
14
Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature. (19125092)
2009
15
High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome. (19737548)
2009
16
Growth in Noonan syndrome. (20029234)
2009
17
Noonan syndrome associated with systemic lupus erythematosus. (19213867)
2009
18
Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation. (18253957)
2008
19
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. (17704260)
2007
20
Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations. (17497712)
2007
21
Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome. (17339163)
2007
22
The natural history of Noonan syndrome: a long-term follow-up study. (16990350)
2007
23
Noonan syndrome and correction of the webbed neck. (17293292)
2007
24
Prevalence of migraine in Noonan syndrome. (17376109)
2007
25
Hypertrophic cardiomyopathy in Noonan Syndrome closely mimics familial hypertrophic cardiomyopathy due to sarcomeric mutations. (16267621)
2006
26
Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype? (16804314)
2006
27
Noonan syndrome with giant cell lesions. (16364097)
2006
28
PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype. (17020470)
2006
29
Bilateral coronary artery dilatation and supravalvular pulmonary stenosis in a child with noonan syndrome. (16088418)
2005
30
A case of neurofibromatosis-Noonan syndrome with a central giant cell granuloma. (15356469)
2004
31
A 3-bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. (15211660)
2004
32
Aneurysmal sub-arachnoid haemorrhage in patients with Noonan syndrome: a report of two cases and review of neurovascular presentations in this syndrome. (15034699)
2004
33
Neuropsychological developmental change in a case with Noonan syndrome: longitudinal assessment. (12767464)
2003
34
Editorial: Noonan syndrome--certitude replaces conjecture. (12161468)
2002
35
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome. (12161469)
2002
36
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype- phenotype correlation, and phenotypic heterogeneity. (11992261)
2002
37
Growth hormone (GH) secretion in children with Noonan syndrome: frequently abnormal without consequences for growth or response to GH treatment. (11167926)
2001
38
Spinal deformities in Noonan syndrome: a clinical review of sixty cases. (11679599)
2001
39
Cardiopulmonary rehabilitation in a patient with Noonan syndrome. (10668781)
2000
40
Noonan syndrome presented with cystic hygroma and chylothorax: case report. (10493040)
1999
41
Noonan syndrome: genotype analysis of the Noonan syndrome critical region at chromosome 12q in a three-generation family. (9741475)
1998
42
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. (9149755)
1997
43
Progressive hydrocephalus in Noonan syndrome. (9354850)
1997
44
Cerebral infarction in Noonan syndrome. (9215779)
1997
45
Multiple-marker screen positive results in Noonan syndrome. (8650132)
1996
46
Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association. (8985499)
1996
47
Noonan syndrome with cafAc-au-lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus. (7586657)
1995
48
Noonan syndrome and neuroblastoma. (7581766)
1995
49
Familial Noonan syndrome. (8613296)
1995
50
Noonan syndrome. (7640194)
1995

Variations for Noonan Syndrome

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Clinvar genetic disease variations for Noonan Syndrome:

6 (show all 67)
id Gene Name Type Significance SNP ID Assembly Location
1SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)single nucleotide variantPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
2SOS1NM_005633.3(SOS1): c.806T> G (p.Met269Arg)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
3SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)single nucleotide variantPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
4SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
5SOS1NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg)single nucleotide variantPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
6PTPN11NM_002834.3(PTPN11): c.214G> T (p.Ala72Ser)single nucleotide variantPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
7PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
8PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
9PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
10PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
11PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
12PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
13PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
14PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
15PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
16NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
17RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
18RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
19RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
20BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
21NRASNM_002524.4(NRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747
22PTPN11NM_002834.3(PTPN11): c.124A> G (p.Thr42Ala)single nucleotide variantPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
23PTPN11NM_002834.3(PTPN11): c.172A> C (p.Asn58His)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
24PTPN11NM_002834.3(PTPN11): c.172A> G (p.Asn58Asp)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
25PTPN11NM_002834.3(PTPN11): c.174C> A (p.Asn58Lys)single nucleotide variantLikely pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
26PTPN11NM_002834.3(PTPN11): c.174C> G (p.Asn58Lys)single nucleotide variantLikely pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
27PTPN11NM_002834.3(PTPN11): c.179G> C (p.Gly60Ala)single nucleotide variantPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
28PTPN11NM_002834.3(PTPN11): c.205G> C (p.Glu69Gln)single nucleotide variantPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
29PTPN11NM_002834.3(PTPN11): c.214G> C (p.Ala72Pro)single nucleotide variantLikely pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
30PTPN11NM_002834.3(PTPN11): c.228G> T (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
31PTPN11NM_002834.3(PTPN11): c.228G> C (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
32PTPN11NM_002834.3(PTPN11): c.317A> C (p.Asp106Ala)single nucleotide variantPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
33PTPN11NM_002834.3(PTPN11): c.328G> A (p.Glu110Lys)single nucleotide variantPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
34PTPN11NM_002834.3(PTPN11): c.417G> T (p.Glu139Asp)single nucleotide variantPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
35PTPN11NM_002834.3(PTPN11): c.781C> T (p.Leu261Phe)single nucleotide variantLikely pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
36PTPN11NM_002834.3(PTPN11): c.794G> A (p.Arg265Gln)single nucleotide variantLikely pathogenicrs376607329GRCh37Chr 12, 112910785: 112910785
37PTPN11NM_002834.3(PTPN11): c.802G> T (p.Gly268Cys)single nucleotide variantLikely pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
38PTPN11NM_002834.3(PTPN11): c.846C> G (p.Ile282Met)single nucleotide variantLikely pathogenicrs397507530GRCh37Chr 12, 112910837: 112910837
39PTPN11NM_002834.3(PTPN11): c.854T> G (p.Phe285Cys)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
40PTPN11NM_002834.3(PTPN11): c.923A> C (p.Asn308Thr)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
41PTPN11NM_002834.3(PTPN11): c.1471C> A (p.Pro491Thr)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
42PTPN11NM_002834.3(PTPN11): c.1471C> T (p.Pro491Ser)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
43PTPN11NM_002834.3(PTPN11): c.1472C> A (p.Pro491His)single nucleotide variantLikely pathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
44PTPN11NM_002834.3(PTPN11): c.1502G> A (p.Arg501Lys)single nucleotide variantPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
45PTPN11NM_002834.3(PTPN11): c.1505C> T (p.Ser502Leu)single nucleotide variantPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
46RAF1NM_002880.3(RAF1): c.768G> T (p.Arg256Ser)single nucleotide variantPathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
47RAF1NM_002880.3(RAF1): c.781C> A (p.Pro261Thr)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
48RAF1NM_002880.3(RAF1): c.781C> G (p.Pro261Ala)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
49RAF1NM_002880.3(RAF1): c.1457A> G (p.Asp486Gly)single nucleotide variantPathogenicrs397516815GRCh37Chr 3, 12627259: 12627259
50SOS1NM_005633.3(SOS1): c.508A> G (p.Lys170Glu)single nucleotide variantPathogenicrs397517172GRCh37Chr 2, 39283845: 39283845
51SOS1NM_005633.3(SOS1): c.806T> C (p.Met269Thr)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
52SOS1NM_005633.3(SOS1): c.1297G> A (p.Glu433Lys)single nucleotide variantPathogenicrs397517147GRCh37Chr 2, 39250272: 39250272
53SOS1NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)single nucleotide variantPathogenicrs397517148GRCh37Chr 2, 39250269: 39250269
54SOS1NM_005633.3(SOS1): c.1642A> C (p.Ser548Arg)single nucleotide variantPathogenicrs397517149GRCh37Chr 2, 39249927: 39249927
55SOS1NM_005633.3(SOS1): c.1649T> C (p.Leu550Pro)single nucleotide variantPathogenicrs397517153GRCh37Chr 2, 39249920: 39249920
56SOS1NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
57SOS1NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
58SOS1NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
59SOS1NM_005633.3(SOS1): c.2183A> T (p.Lys728Ile)single nucleotide variantPathogenicrs397517156GRCh37Chr 2, 39239474: 39239474
60SOS1NM_005633.3(SOS1): c.2536G> A (p.Glu846Lys)single nucleotide variantPathogenicrs397517159GRCh37Chr 2, 39234309: 39234309
61MAP2K1NM_002755.3(MAP2K1): c.169A> C (p.Lys57Gln)single nucleotide variantPathogenicrs397516790GRCh37Chr 15, 66727453: 66727453
62PTPN11NM_002834.3(PTPN11): c.1226G> C (p.Gly409Ala)single nucleotide variantPathogenicrs201247699GRCh37Chr 12, 112924280: 112924280
63PTPN11NM_002834.3(PTPN11): c.855T> G (p.Phe285Leu)single nucleotide variantPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
64KRASNM_033360.3(KRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913240GRCh37Chr 12, 25380276: 25380276
65CBLNM_005188.3(CBL): c.1096-1G> Csingle nucleotide variantPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
66SOS1NM_005633.3(SOS1): c.925G> T (p.Asp309Tyr)single nucleotide variantPathogenicrs397517180GRCh37Chr 2, 39262581: 39262581
67SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)single nucleotide variantPathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Expression for genes affiliated with Noonan Syndrome

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Expression patterns in normal tissues for genes affiliated with Noonan Syndrome

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Pathways for genes affiliated with Noonan Syndrome

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Pathways related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 205)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.7MAP2K1, MAP2K2, MAPK1, SOS1, PTPN11, RAF1
2
Show member pathways
G protein signaling M RAS regulation pathway60
8.7MAP2K2, MAPK1, BRAF, SOS1, NF1, RAF1
38.6MAP2K2, MAPK1, BRAF, MAP2K1, NRAS, KRAS
48.5PTPN11, HRAS, KRAS, RAF1, MAP2K1, CBL
5
Show member pathways
IL-2 Signaling pathway37
8.5CBL, SOS1, PTPN11, MAPK1, MAP2K2, MAP2K1
6
Show member pathways
Development Flt3 signaling60
8.5CBL, SOS1, PTPN11, MAPK1, MAP2K2, MAP2K1
7
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.5HRAS, RAF1, MAP2K1, MAP2K2, MAPK1, CBL
88.5PTPN11, HRAS, RAF1, MAP2K1, MAP2K2, MAPK1
9
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.5RAF1, MAP2K1, MAP2K2, MAPK1, CBL, SOS1
10
Show member pathways
8.5HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
11
Show member pathways
8.5HRAS, RAF1, NRAS, MAP2K1, MAP2K2, MAPK1
12
Show member pathways
8.4MAP2K1, MAP2K2, MAPK1, BRAF, NRAS, RAF1
13
Show member pathways
8.4HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
14
Show member pathways
8.3HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
15
Show member pathways
8.3SOS1, MAPK1, MAP2K2, MAP2K1, NRAS, RAF1
16
Show member pathways
8.3SOS1, HRAS, RAF1, NRAS, MAP2K1, MAP2K2
17
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
8.3HRAS, RAF1, NRAS, MAP2K1, MAP2K2, MAPK1
18
Show member pathways
8.2MAP2K1, MAP2K2, MAPK1, BRAF, SOS1, NRAS
19
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
8.1RAF1, NRAS, MAP2K1, MAP2K2, MAPK1, CBL
20
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.1HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
21
Show member pathways
8.1NRAS, MAP2K1, MAP2K2, MAPK1, CBL, SOS1
22
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
8.1MAPK1, CBL, SOS1, PTPN11, IGF1, MAP2K2
23
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
8.1PTPN11, SOS1, HRAS, KRAS, RAF1, NRAS
248.1HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
25
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.1HRAS, KRAS, RAF1, MAP2K1, MAP2K2, MAPK1
26
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.0HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
27
Show member pathways
Development EDNRB signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.0CBL, BRAF, SOS1, MAPK1, MAP2K2, MAP2K1
288.0HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
29
Show member pathways
MAPK signaling pathway37
8.0HRAS, KRAS, NF1, RAF1, NRAS, MAP2K1
30
Show member pathways
8.0HRAS, RIT1, KRAS, RAF1, NRAS, MAP2K1
31
Show member pathways
7.9MAP2K2, MAPK1, SOS1, PTPN11, IGF1, MAP2K1
32
Show member pathways
Immune response CD16 signaling in NK cells60
7.9HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
33
Show member pathways
7.9HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
34
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
7.9SOS1, PTPN11, BRAF, HRAS, KRAS, RAF1
35
Show member pathways
7.9PTPN11, HRAS, KRAS, RAF1, NRAS, MAP2K1
36
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor37
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
7.9SOS1, PTPN11, BRAF, HRAS, KRAS, RAF1
377.8SHOC2, PTPN11, SOS1, CBL, HRAS, KRAS
38
Show member pathways
7.8HRAS, RAF1, NRAS, MAP2K1, MAP2K2, MAPK1
39
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
7.8HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
407.8HRAS, NF1, RAF1, NRAS, MAP2K1, MAP2K2
41
Show member pathways
7.7SOS1, PTPN11, CBL, GHR, MAPK1, HRAS
42
Show member pathways
7.7HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
43
Show member pathways
Signal transduction PTEN pathway60
7.6HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
447.6HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
45
Show member pathways
7.6MAP2K1, MAP2K2, MAPK1, CBL, BRAF, SOS1
46
Show member pathways
7.5SOS1, IGF1, BRAF, HRAS, RAF1, NRAS
477.5HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
48
Show member pathways
7.4HRAS, KRAS, NF1, RAF1, NRAS, MAP2K1
49
Show member pathways
Signaling Pathways in Glioblastoma37
7.4MAPK1, CBL, BRAF, SOS1, IGF1, MAP2K2
50
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
6.7HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2

Compounds for genes affiliated with Noonan Syndrome

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Compounds related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 139)
idCompoundScoreTop Affiliating Genes
1trametinib50 1111.1MAP2K1, MAP2K2, BRAF
2gw-5074449.9MAPK1, RAF1, BRAF
3zm 33637261 4410.9MAPK1, RAF1, BRAF
4pd-184352449.8RAF1, MAPK1, MAP2K1, KRAS
5manumycin449.6HRAS, MAPK1, MAP2K1, RAF1
6agar449.5PTPN11, BRAF, MAP2K1, NRAS, HRAS, RAF1
7sodium orthovanadate44 6110.2PTPN11, ACP1, MAPK1, RAF1
8ag 1478449.2IGF1, PTPN11, CBL, MAPK1, MAP2K1, RAF1
9imatinib44 50 1111.2RAF1, PTPN11, BRAF, CBL, MAPK1, MAP2K1
10gf 109203x44 6110.2RAF1, MAP2K1, MAPK1, GHR, HRAS
11sorafenib44 50 1111.1RAF1, BRAF, ACP1, MAPK1
12valine449.1HRAS, KRAS, IGFBP3, BRAF, RAF1
13forskolin44 50 1111.0NF1, MAP2K1, PTPN11, BRAF, MAPK1, RAF1
14oligonucleotide448.9HRAS, KRAS, NF1, RAF1, PTPN11, BRAF
15phorbol448.9ACP1, MAPK1, MAP2K1, RAF1, GHR
16herbimycin a44 619.9ACP1, HRAS, MAPK1, PTPN11, RAF1, MAP2K1
17paclitaxel44 50 1110.9MAPK1, BRAF, MAP2K1, RAF1, KRAS, HRAS
18gnrh448.8MAP2K1, IGFBP3, GHR, RAF1, MAPK1, IGF1
19gtp44 289.8SOS1, BRAF, HRAS, KRAS, RAF1, NF1
20menadione44 24 1110.8IGF1, SOS1, ACP1, MAPK1
21pd 98,059448.8IGF1, MAP2K1, MAP2K2, MAPK1, BRAF, HRAS
22cytochalasin d44 619.8RAF1, NF1, MAPK1, ACP1, IGF1
23curcumin448.8IGFBP3, MAPK1, ACP1, MAP2K1, RAF1
2412-o-tetradecanoylphorbol 13-acetate448.8ACP1, MAPK1, MAP2K1, RAF1, HRAS, BRAF
25butyrate448.7ACP1, IGFBP3, MAPK1, KRAS, RAF1, MAP2K1
26sb 20358044 619.6IGF1, BRAF, MAP2K1, RAF1, ACP1, PTPN11
27progesterone44 28 61 24 1112.5IGF1, IGFBP3, GHR, MAP2K1, NF1, HRAS
28h2o2448.5CBL, ACP1, MAPK1, MAP2K1, PTPN11, RAF1
29thymidine44 249.4MAPK1, IGFBP3, IGF1, HRAS, RAF1, MAP2K1
30glucose448.4GHR, CBL, BRAF, PTPN11, MAP2K1, IGF1
31phosphotyrosine448.4HRAS, RAF1, MAP2K1, GHR, MAPK1, PTPN11
32genistein44 28 61 2 24 1113.3IGF1, ACP1, MAPK1, MAP2K1, RAF1, HRAS
33alanine448.3RAF1, IGFBP3, CBL, NF1, MAP2K1, GHR
34threonine448.2CBL, BRAF, RAF1, PTPN11, ACP1, MAPK1
35glutamate448.2ACP1, GHR, MAPK1, MAP2K1, BRAF, IGFBP3
36cysteine448.1RAF1, HRAS, MAP2K1, NF1, GHR, IGFBP3
37cisplatin44 50 61 1111.1BRAF, IGFBP3, PTPN11, ACP1, RAF1, MAPK1
38phosphoinositide448.1MAP2K2, KRAS, HRAS, PTPN11, RAF1, MAP2K1
39dexamethasone44 50 28 1111.0GHR, IGF1, PTPN11, ACP1, IGFBP3, MAPK1
40cycloheximide448.0MAPK1, IGF1, GHR, MAP2K1, IGFBP3, MAP2K2
41arginine447.9HRAS, BRAF, NF1, MAP2K1, IGF1, IGFBP3
42ly294002447.7IGFBP3, IGF1, PTPN11, BRAF, ACP1, MAP2K1
43vegf447.7ACP1, BRAF, PTPN11, IGF1, HRAS, MAPK1
44wortmannin447.7ACP1, CBL, PTPN11, MAPK1, MAP2K2, HRAS
45rapamycin447.6HRAS, KRAS, NF1, RAF1, MAP2K1, MAPK1
46estrogen447.3NF1, ACP1, HRAS, GHR, MAPK1, MAP2K1
47retinoic acid44 248.1MAP2K1, BRAF, CBL, ACP1, GHR, IGFBP3
48phosphatidylinositol446.9MAP2K1, RAF1, NF1, KRAS, HRAS, GHR
49tyrosine446.7KRAS, NF1, RAF1, NRAS, PTPN11, MAP2K1
50serine446.5MAP2K2, MAP2K1, RAF1, NF1, KRAS, MAPK1

GO Terms for genes affiliated with Noonan Syndrome

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Cellular components related to Noonan Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.8IGFBP3, IGF1
2pseudopodiumGO:0311439.8RAF1, MAPK1
3late endosomeGO:0057709.5MAP2K2, MAP2K1, MAPK1
4dendrite cytoplasmGO:0328399.5MAP2K1, MAPK1
5Golgi apparatusGO:0057948.9RAF1, HRAS, MAPK1, MAP2K2, MAP2K1
6mitochondrionGO:0057398.9MAPK1, MAP2K1, KRAS, PTPN11, MAP2K2, GHR
7cytosolGO:0058298.5RAF1, PTPN11, SOS1, BRAF, CBL, MAPK1
8plasma membraneGO:0058867.9HRAS, RIT1, KRAS, RAF1, NRAS, MAP2K1
9cytoplasmGO:0057377.7CBL, PTPN11, NF1, ACP1, MAPK1, MAP2K2
10nucleusGO:0056347.1HRAS, IGFBP3, KAT6B, SHOC2, PTPN11, BRAF

Biological processes related to Noonan Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idNameGO IDScoreTop Affiliating Genes
1ERBB signaling pathwayGO:03812710.2MAPK1, PTPN11
2positive regulation of Rac protein signal transductionGO:03502210.2HRAS, KRAS, NRAS
3striated muscle cell differentiationGO:05114610.2NRAS, HRAS, KRAS
4response to epidermal growth factorGO:07084910.1MAPK1, BRAF
5protein heterooligomerizationGO:05129110.0BRAF, HRAS, MAP2K1
6positive regulation of Ras protein signal transductionGO:04657910.0IGF1, SHOC2, MAP2K1
7regulation of early endosome to late endosome transportGO:20006419.9MAP2K2, MAP2K1, MAPK1
8regulation of Golgi inheritanceGO:0901709.9MAP2K1, MAP2K2, MAPK1
9regulation of Ras GTPase activityGO:0323189.9NF1, SOS1
10regulation of stress-activated MAPK cascadeGO:0328729.9MAPK1, MAP2K2, MAP2K1
11regulation of synaptic transmission, GABAergicGO:0322289.9NRAS, HRAS, KRAS, NF1
12regulation of multicellular organism growthGO:0400149.9PTPN11, IGF1, GHR
13regulation of long-term neuronal synaptic plasticityGO:0481699.9KRAS, NF1, NRAS, HRAS
14negative regulation of neuron apoptotic processGO:0435249.9HRAS, BRAF, KRAS, NRAS
15visual learningGO:0085429.9NF1, NRAS, KRAS, HRAS
16response to glucocorticoidGO:0513849.9GHR, MAP2K1, KRAS
17stress-activated MAPK cascadeGO:0514039.9MAP2K1, MAPK1, MAP2K2
18actin cytoskeleton organizationGO:0300369.9NRAS, NF1, KRAS, HRAS
19GTP catabolic processGO:0061849.8HRAS, RIT1, NRAS, KRAS
20leukocyte migrationGO:0509009.8HRAS, KRAS, NRAS, SOS1, PTPN11
21toll-like receptor 5 signaling pathwayGO:0341469.8MAP2K1, MAP2K2, MAPK1
22toll-like receptor 10 signaling pathwayGO:0341669.8MAP2K1, MAP2K2, MAPK1
23toll-like receptor TLR1:TLR2 signaling pathwayGO:0381239.8MAP2K1, MAP2K2, MAPK1
24toll-like receptor TLR6:TLR2 signaling pathwayGO:0381249.8MAP2K1, MAP2K2, MAPK1
25toll-like receptor 9 signaling pathwayGO:0341629.8MAP2K2, MAPK1, MAP2K1
26toll-like receptor 2 signaling pathwayGO:0341349.7MAP2K1, MAP2K2, MAPK1
27TRIF-dependent toll-like receptor signaling pathwayGO:0356669.7MAP2K1, MAPK1, MAP2K2
28positive regulation of MAPK cascadeGO:0434109.7HRAS, IGF1, IGFBP3
29MyD88-dependent toll-like receptor signaling pathwayGO:0027559.6MAP2K2, MAP2K1, MAPK1
30MyD88-independent toll-like receptor signaling pathwayGO:0027569.6MAPK1, MAP2K1, MAP2K2
31platelet activationGO:0301689.6MAPK1, SOS1, IGF1, RAF1
32toll-like receptor 3 signaling pathwayGO:0341389.5MAPK1, MAP2K2, MAP2K1
33toll-like receptor 4 signaling pathwayGO:0341429.5MAP2K2, MAPK1, MAP2K1
34activation of MAPK activityGO:0001879.4PTPN11, GHR, MAPK1, MAP2K2, MAP2K1
35negative regulation of cell proliferationGO:0082859.3MAP2K1, RAF1, IGFBP3, IGF1, HRAS
36positive regulation of cell proliferationGO:0082849.2MAPK1, NRAS, KRAS, HRAS, IGF1
37organ morphogenesisGO:0098879.2BRAF, HRAS, MAPK1
38activation of MAPKK activityGO:0001868.9HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
39MAPK cascadeGO:0001658.8RAF1, NRAS, MAP2K1, MAP2K2, MAPK1, HRAS
40signal transductionGO:0071658.8MAP2K1, IGF1, SOS1, MAPK1, RAF1, RIT1
41blood coagulationGO:0075968.8RAF1, HRAS, IGF1, KRAS, PTPN11, SOS1
42insulin receptor signaling pathwayGO:0082868.7HRAS, KRAS, RAF1, NRAS, MAP2K1, MAP2K2
43Fc-epsilon receptor signaling pathwayGO:0380958.7HRAS, PTPN11, SOS1, KRAS, RAF1, NRAS
44axon guidanceGO:0074118.7RAF1, SOS1, MAPK1, MAP2K2, MAP2K1, PTPN11
45innate immune responseGO:0450878.7HRAS, PTPN11, KRAS, SOS1, MAPK1, MAP2K2
46epidermal growth factor receptor signaling pathwayGO:0071738.5MAP2K1, MAP2K2, MAPK1, CBL, SOS1, PTPN11
47small GTPase mediated signal transductionGO:0072648.4RAF1, BRAF, MAP2K1, NRAS, HRAS, KRAS
48neurotrophin TRK receptor signaling pathwayGO:0480118.2RIT1, KRAS, HRAS, SOS1, PTPN11, MAP2K2
49fibroblast growth factor receptor signaling pathwayGO:0085438.1BRAF, RAF1, NRAS, MAP2K1, MAP2K2, MAPK1
50Ras protein signal transductionGO:0072657.7NRAS, MAP2K1, MAP2K2, MAPK1, SOS1, IGF1

Molecular functions related to Noonan Syndrome according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:03126710.1RAF1, BRAF
2protein serine/threonine kinase activator activityGO:04353910.1MAP2K2, MAP2K1
3mitogen-activated protein kinase kinase bindingGO:03143410.1BRAF, RAF1
4MAP kinase kinase activityGO:00470810.0MAP2K1, MAP2K2
5non-membrane spanning protein tyrosine phosphatase activityGO:0047269.8ACP1, PTPN11
6phosphotyrosine bindingGO:0017849.7CBL, MAPK1
7protein serine/threonine kinase activityGO:0046749.3BRAF, MAPK1, MAP2K2, MAP2K1, RAF1
8GTP bindingGO:0055259.2HRAS, RIT1, KRAS, NRAS
9protein bindingGO:0055155.6HRAS, IGFBP3, IGF1, KAT6B, PTPN11, SOS1

Products for genes affiliated with Noonan Syndrome

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  • Proteins
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Sources for Noonan Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet