NS1
MCID: NNN008
MIFTS: 66

Noonan Syndrome 1 (NS1) malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases, Cancer diseases categories
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Summaries for Noonan Syndrome 1

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43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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

MalaCards: Noonan Syndrome 1, also known as noonan syndrome, is related to noonan syndrome and neurofibromatosis, and has symptoms including hypotrichosis/atrichia/atrichiasis/scalp hairlessness, anomalies of the lymphatic system and clinodactyly of fifth finger. An important gene associated with Noonan Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are EGFR Transactivation by Gastrin and Long-term depression. The compounds pd-184352 and gdc 0879 have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and testes, and related mouse phenotypes are pigmentation and limbs/digits/tail.

Description from OMIM:47 163950, 605275, 609942, 610733, 611553 613224, 613706, 615355 more

Aliases & Classifications for Noonan Syndrome 1

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49Orphanet, 62UMLS, 43NIH Rare Diseases, 22GTR, 47OMIM, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Related Diseases for Noonan Syndrome 1

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17GeneCards, 18GeneDecks
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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 1 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 209)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome31.7PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
2neurofibromatosis31.1PTPN11, KRAS
3leukemia30.8KRAS, RAF1, NRAS, PTPN11, KAT6B
4juvenile myelomonocytic leukemia30.8KRAS, NRAS, PTPN11
5leopard syndrome30.5RAF1, SOS1, PTPN11
6short stature30.4PTPN11, SOS1, BRAF
7cardiofaciocutaneous syndrome30.3PTPN11, SOS1, BRAF, KRAS
8costello syndrome30.3PTPN11, SOS1, BRAF, KRAS
9congenital heart disease30.1PTPN11, SOS1, BRAF, RAF1
10dengue disease30.0RAF1, KRAS
11hepatitis29.9SOS1, RAF1, KRAS
12hepatitis c29.8PTPN11, SOS1, RAF1, KRAS
13influenza11.0
14neurofibromatosis-noonan syndrome10.7
15encephalitis10.6
16hypertrophic cardiomyopathy10.6
17avian influenza10.5
18noonan syndrome 310.5
19japanese encephalitis10.5
20noonan syndrome 210.4
21noonan syndrome 410.4
22noonan syndrome 510.4
23noonan syndrome 610.4
24saldino-noonan syndrome10.4
25noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.4
26west nile virus10.4
27tick-borne encephalitis10.3
28lymphoblastic leukemia10.3
29rhabdomyosarcoma10.3
30noonan-like/multiple giant cell lesion syndrome10.3
31murray valley encephalitis10.3
32granular cell tumor10.3
33systemic lupus erythematosus10.3
34lupus erythematosus10.3
35retinitis10.3
36louping ill10.2
37vaccinia10.2
38cherubism10.2
39retinitis pigmentosa10.2
40coloboma10.2
41lymphedema10.2
42kras-related noonan syndrome10.2
43sos1-related noonan syndrome10.2
44raf1-related noonan syndrome10.2
45nras-related noonan syndrome10.2
46braf-related noonan syndrome10.2
47noonan syndrome 810.2
48myeloproliferative disorder10.2
49noonan syndrome 710.2
50polydactyly10.1

Graphical network of the top 20 diseases related to Noonan Syndrome 1:



Diseases related to noonan syndrome 1

Symptoms for Noonan Syndrome 1

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

163950

Clinical features from OMIM:

163950,605275,609942,610733,611553,613224,613706,615355

Symptoms:

49 (show all 57)
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • anomalies of the lymphatic system
  • clinodactyly of fifth finger
  • excess nuchal skin without pterygium colli
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • cystic hygroma
  • abnormal dermatoglyphics
  • webbed neck/pterygium colli
  • low hair line (back)
  • abnormally placed nipples
  • wide rib cage/thorax
  • pulmonary valve atresia/stenosis/narrowing
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • clotting/hemostasis disorders
  • structural and functional anomalies of the spleen
  • triangular face
  • structural anomalies of the genital system
  • proptosis/exophthalmos
  • anomalies of mouth, lip and philtrum
  • radioulnar synostosis
  • pulmonary artery stenosis/absence/hypoplasia of the pulmonary branches
  • high forehead
  • platelets function anomaly
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • lymphedema
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hepatomegaly/liver enlargement (excluding storage disease)
  • muscle weakness/flaccidity
  • hypotonia
  • pigmented naevi/naevus pigmentosus/lentigo
  • high vaulted/narrow palate
  • autosomal dominant inheritance
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • ptosis
  • nystagmus
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • scoliosis
  • pectus excavatum
  • low set ears/posteriorly rotated ears
  • delayed bone age
  • helix/crux helix absent/abnormal/adherent/crux cymbae/posterior helix pits
  • strabismus/squint
  • hyperextensible joints/articular hyperlaxity
  • short hand/brachydactyly
  • congenital cardiac anomaly/malformation/cardiopathy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • mid-facial hypoplasia/short/small midface
  • cardiac rhythm disorder/arrhythmia
  • late puberty/hypogonadism/hypogenitalism
  • absent/hypotonic/flaccid abdominal wall muscles
  • short stature/dwarfism/nanism
  • coarse/thick hair
  • sensorineural deafness/hearing loss
  • pectus carinatum
  • thick lips
  • hypertelorism

Drugs & Therapeutics for Noonan Syndrome 1

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Noonan Syndrome 1

Search NIH Clinical Center for Noonan Syndrome 1

Genetic Tests for Noonan Syndrome 1

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22GTR
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Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 122

Anatomical Context for Noonan Syndrome 1

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33MalaCards
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MalaCards organs/tissues related to Noonan Syndrome 1:

33
Heart, Skin, Testes, Eye, Spleen, Bone, Liver

Animal Models for Noonan Syndrome 1 or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Noonan Syndrome 1:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011868.8BRAF, KRAS, PTPN11
2MP:00053718.6KAT6B, PTPN11, NRAS, KRAS
3MP:00020068.4PTPN11, BRAF, NRAS, RAF1, KRAS
4MP:00053708.4PTPN11, BRAF, NRAS, RAF1, KRAS
5MP:00030128.3PTPN11, SOS1, NRAS, RAF1
6MP:00028738.2PTPN11, BRAF, NRAS, RAF1, KRAS
7MP:00053818.0PTPN11, SOS1, BRAF, NRAS, KRAS
8MP:00053828.0KAT6B, PTPN11, SOS1, BRAF, RAF1
9MP:00053907.8KAT6B, PTPN11, SOS1, BRAF, RAF1
10MP:00053697.6KAT6B, PTPN11, SOS1, BRAF, RAF1, KRAS
11MP:00107717.6PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
12MP:00053807.6PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
13MP:00053857.6PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
14MP:00053977.5PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
15MP:00053877.5PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
16MP:00036317.4KAT6B, PTPN11, SOS1, BRAF, RAF1, KRAS
17MP:00053767.3PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
18MP:00053917.1KRAS, KAT6B, PTPN11, SOS1, BRAF, NRAS
19MP:00053787.1KAT6B, PTPN11, SOS1, BRAF, NRAS, RAF1
20MP:00107687.0KAT6B, PTPN11, SOS1, BRAF, NRAS, RAF1
21MP:00053846.7KAT6B, PTPN11, SOS1, BRAF, NRAS, RAF1

Publications for Noonan Syndrome 1

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Variations for Noonan Syndrome 1

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 1:

64 (show all 31)
id Symbol AA change Variation ID SNP ID
1PTPN11p.Thr42AlaVAR_015601
2PTPN11p.Gly60AlaVAR_015602
3PTPN11p.Asp61GlyVAR_015603
4PTPN11p.Asp61AsnVAR_015604
5PTPN11p.Tyr62AspVAR_015605
6PTPN11p.Tyr63CysVAR_015606
7PTPN11p.Ala72GlyVAR_015607
8PTPN11p.Ala72SerVAR_015608
9PTPN11p.Thr73IleVAR_015609rs28933387
10PTPN11p.Glu76AspVAR_015610
11PTPN11p.Gln79ArgVAR_015611
12PTPN11p.Asp106AlaVAR_015612
13PTPN11p.Glu139AspVAR_015613
14PTPN11p.Tyr279CysVAR_015614
15PTPN11p.Ile282ValVAR_015615
16PTPN11p.Phe285SerVAR_015616
17PTPN11p.Phe285LeuVAR_015617
18PTPN11p.Asn308SerVAR_015618
19PTPN11p.Asn308AspVAR_015619
20PTPN11p.Arg505LysVAR_015622
21PTPN11p.Ser506ThrVAR_015623
22PTPN11p.Met508ValVAR_015624
23PTPN11p.Thr2IleVAR_027183
24PTPN11p.Asn58LysVAR_027184
25PTPN11p.Glu69GlnVAR_027185
26PTPN11p.Gln79ProVAR_027186
27PTPN11p.Gln256ArgVAR_027187
28PTPN11p.Thr415MetVAR_027189
29PTPN11p.Gln510ArgVAR_027195
30PTPN11p.Leu564PheVAR_027197
31PTPN11p.Thr59AlaVAR_066060

Clinvar genetic disease variations for Noonan Syndrome 1:

1 (show all 29)
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.215C> G (p.Ala72Gly)single nucleotide variantPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
8PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
9PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
10PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
11PTPN11NM_002834.3(PTPN11): c.184T> G (p.Tyr62Asp)single nucleotide variantPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
12PTPN11NM_002834.3(PTPN11): c.182A> G (p.Asp61Gly)single nucleotide variantPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
13PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantPathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
14PTPN11NM_002834.3(PTPN11): c.1504T> A (p.Ser502Thr)single nucleotide variantPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
15PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
16PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
17PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
18PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
19PTPN11NM_002834.3(PTPN11): c.1232C> T (p.Thr411Met)single nucleotide variantPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
20PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
21PTPN11NM_002834.3(PTPN11): c.1529A> G (p.Gln510Arg)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
22PTPN11NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
23PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
24NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
25RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
26RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
27BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
28PTPN11NM_002834.3(PTPN11): c.785T> G (p.Leu262Arg)single nucleotide variantPathogenicrs397507526GRCh37Chr 12, 112910776: 112910776
29SHOC2NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly)single nucleotide variantPathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Expression for genes affiliated with Noonan Syndrome 1

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Noonan Syndrome 1

Search GEO for disease gene expression data for Noonan Syndrome 1.

Pathways for genes affiliated with Noonan Syndrome 1

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Sources:
50PathCards, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 51PharmGKB, 61Tocris Bioscience, 53QIAGEN, 60Thomson Reuters, 54R&D Systems, 5Cell Signaling Technology
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Pathways related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 130)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
EGFR-dependent Endothelin signaling events38
8.7NRAS, SOS1, KRAS
28.5KRAS, NRAS, BRAF, RAF1
3
Show member pathways
8.5KRAS, NRAS, RAF1, BRAF
4
Show member pathways
8.5KRAS, RAF1, NRAS, BRAF
5
Show member pathways
8.5KRAS, RAF1, NRAS, BRAF
68.4SOS1, RAF1, KRAS, PTPN11
7
Show member pathways
8.4PTPN11, SOS1, NRAS, KRAS
8
Show member pathways
8.3SOS1, KRAS, RAF1, NRAS
9
Show member pathways
8.3SOS1, NRAS, RAF1, KRAS
108.2KRAS, SOS1, RAF1, BRAF
118.2KRAS, RAF1, BRAF, SOS1
128.1NRAS, RAF1, SOS1, BRAF
13
Show member pathways
8.1RAF1, NRAS, BRAF, SOS1
14
Show member pathways
8.1SOS1, NRAS, RAF1, BRAF
15
Show member pathways
Immune response IL 22 signaling pathway60
G protein signaling N RAS regulation pathway60
8.1SOS1, BRAF, NRAS, RAF1
16
Show member pathways
7.9SOS1, RAF1, KRAS, NRAS, PTPN11
17
Show member pathways
Prolactin Signaling Pathway38
Development Prolactin receptor signaling60
Leptin signaling pathway38
7.9NRAS, SOS1, RAF1, KRAS, PTPN11
187.9NRAS, SOS1, PTPN11, KRAS, RAF1
19
Show member pathways
7.9PTPN11, SOS1, NRAS, KRAS, RAF1
20
Show member pathways
7.9KRAS, NRAS, PTPN11, SOS1, RAF1
21
Show member pathways
7.9NRAS, SOS1, PTPN11, RAF1, KRAS
22
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
7.9SOS1, NRAS, KRAS, PTPN11, RAF1
23
Show member pathways
7.9NRAS, SOS1, PTPN11, KRAS, RAF1
24
Show member pathways
7.8SOS1, RAF1, PTPN11, KRAS, BRAF
25
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
7.8PTPN11, SOS1, RAF1, KRAS, BRAF
26
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
7.6KRAS, BRAF, NRAS, RAF1, SOS1
27
Show member pathways
7.6NRAS, SOS1, BRAF, KRAS, RAF1
28
Show member pathways
Signal transduction PTEN pathway60
7.6SOS1, RAF1, KRAS, NRAS, BRAF
29
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
7.6NRAS, RAF1, SOS1, KRAS, BRAF
30
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
7.6SOS1, KRAS, RAF1, NRAS, BRAF
317.6BRAF, NRAS, SOS1, RAF1, KRAS
32
Show member pathways
MAPK signaling pathway38
7.6RAF1, KRAS, BRAF, SOS1, NRAS
33
Show member pathways
7.6RAF1, NRAS, BRAF, SOS1, KRAS
34
Show member pathways
7.6RAF1, BRAF, KRAS, NRAS, SOS1
357.6KRAS, RAF1, BRAF, NRAS, SOS1
36
Show member pathways
Signaling Pathways in Glioblastoma38
7.6BRAF, NRAS, RAF1, KRAS, SOS1
377.3RAF1, KRAS, PTPN11, SOS1, BRAF, NRAS
38
Show member pathways
7.3PTPN11, KRAS, SOS1, BRAF, NRAS, RAF1
39
Show member pathways
7.3PTPN11, SOS1, RAF1, NRAS, BRAF, KRAS
407.3SOS1, BRAF, NRAS, RAF1, PTPN11, KRAS
41
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
7.3NRAS, KRAS, RAF1, BRAF, SOS1, PTPN11
42
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
7.3NRAS, PTPN11, SOS1, BRAF, KRAS, RAF1
43
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
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
7.3PTPN11, SOS1, NRAS, KRAS, BRAF, RAF1
44
Show member pathways
7.3NRAS, SOS1, BRAF, RAF1, KRAS, PTPN11
45
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 Receptor38
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
7.3NRAS, RAF1, BRAF, SOS1, KRAS, PTPN11
46
Show member pathways
Immune response CD16 signaling in NK cells60
7.3BRAF, SOS1, KRAS, RAF1, PTPN11, NRAS
47
Show member pathways
7.3BRAF, RAF1, KRAS, RIT1, NRAS, SOS1
48
Show member pathways
7.1RAF1, KAT6B, SOS1, BRAF, NRAS, KRAS
49
Show member pathways
6.9NRAS, BRAF, SOS1, PTPN11, RIT1, RAF1
50
Show member pathways
6.9PTPN11, SOS1, KRAS, NRAS, RAF1, BRAF

Compounds for genes affiliated with Noonan Syndrome 1

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Sources:
45Novoseek, 61Tocris Bioscience, 51PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR
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Compounds related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1pd-184352459.9KRAS, RAF1
2gdc 0879619.8BRAF, RAF1
3l-779,450619.8BRAF, RAF1
4gw 5074619.8BRAF, RAF1
5sb 590885619.8BRAF, RAF1
6panitumumab45 51 1111.8BRAF, KRAS
7gw-5074459.7BRAF, RAF1
8zm 33637261 4510.7BRAF, RAF1
9dabrafenib51 1110.7RAF1, BRAF
10o6-methylguanine459.6KRAS, BRAF
11sodium orthovanadate45 6110.6PTPN11, RAF1
12cetuximab45 51 1111.6BRAF, KRAS
13crcs459.5KRAS, BRAF
1417-(allylamino)-17-demethoxygeldanamycin459.4RAF1, BRAF
15regorafenib51 1110.4BRAF, RAF1, KRAS
16sb 20358045 6110.3PTPN11, BRAF, RAF1
17valine459.2BRAF, RAF1, KRAS
18paclitaxel45 51 1111.1KRAS, RAF1, BRAF
19depsipeptide459.1RAF1, BRAF
20forskolin45 51 1111.1RAF1, BRAF, PTPN11
21imatinib45 51 1111.0KRAS, RAF1, BRAF, PTPN11
22rapamycin459.0PTPN11, BRAF, RAF1, KRAS
23ly294002459.0PTPN11, BRAF, RAF1, KRAS
24wortmannin459.0KRAS, RAF1, BRAF, PTPN11
25phosphoinositide459.0KRAS, RAF1, BRAF, PTPN11
26cisplatin45 51 61 1111.9KRAS, RAF1, BRAF, PTPN11
27agar458.9RAF1, NRAS, BRAF, PTPN11
28vegf458.9KRAS, RAF1, BRAF, PTPN11
29Guanosine triphosphate248.6SOS1, NRAS, KRAS, RIT1
30oligonucleotide458.5PTPN11, BRAF, NRAS, RAF1, KRAS
31gtp45 299.5KRAS, RAF1, BRAF, SOS1
32phosphatidylinositol458.2PTPN11, SOS1, BRAF, RAF1, KRAS
33serine458.1PTPN11, SOS1, BRAF, RAF1, KRAS
34tyrosine457.7PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS

GO Terms for genes affiliated with Noonan Syndrome 1

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Sources:
16Gene Ontology
See all sources

Cellular components related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.3RIT1, KRAS, RAF1, NRAS, BRAF, SOS1

Biological processes related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:0350229.7KRAS, NRAS
2regulation of synaptic transmission, GABAergicGO:0322289.6NRAS, KRAS
3visual learningGO:0085429.5KRAS, NRAS
4striated muscle cell differentiationGO:0511469.4NRAS, KRAS
5regulation of long-term neuronal synaptic plasticityGO:0481699.2KRAS, NRAS
6MAPK cascadeGO:0001659.2NRAS, RAF1, KRAS
7GTP catabolic processGO:0061849.2RIT1, KRAS, NRAS
8negative regulation of neuron apoptotic processGO:0435249.0KRAS, NRAS, BRAF
9activation of MAPKK activityGO:0001868.7BRAF, NRAS, RAF1, KRAS
10leukocyte migrationGO:0509008.6PTPN11, SOS1, NRAS, KRAS
11insulin receptor signaling pathwayGO:0082868.2PTPN11, SOS1, NRAS, RAF1, KRAS
12Fc-epsilon receptor signaling pathwayGO:0380958.2PTPN11, SOS1, NRAS, RAF1, KRAS
13Ras protein signal transductionGO:0072658.2SOS1, NRAS, RAF1, KRAS, RIT1
14epidermal growth factor receptor signaling pathwayGO:0071738.2KRAS, RAF1, NRAS, SOS1, PTPN11
15axon guidanceGO:0074118.2KRAS, RAF1, NRAS, SOS1, PTPN11
16blood coagulationGO:0075968.1KRAS, RAF1, NRAS, SOS1, PTPN11
17innate immune responseGO:0450878.1PTPN11, SOS1, NRAS, RAF1, KRAS
18fibroblast growth factor receptor signaling pathwayGO:0085437.6PTPN11, SOS1, BRAF, NRAS, RAF1, KRAS
19small GTPase mediated signal transductionGO:0072647.6SOS1, BRAF, NRAS, RAF1, KRAS, RIT1
20neurotrophin TRK receptor signaling pathwayGO:0480117.3RIT1, PTPN11, SOS1, BRAF, NRAS, RAF1

Molecular functions related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:0312679.5RAF1, BRAF
2mitogen-activated protein kinase kinase bindingGO:0314349.4RAF1, BRAF
3GTP bindingGO:0055259.2RIT1, KRAS, NRAS
4MAP kinase kinase kinase activityGO:0047099.1RAF1, BRAF
5protein bindingGO:0055156.8KAT6B, PTPN11, SOS1, BRAF, RAF1, KRAS

Products for genes affiliated with Noonan Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Noonan Syndrome 1

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet