NS1
MCID: NNN008
MIFTS: 67

Noonan Syndrome 1 (NS1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Nephrological diseases, Reproductive diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Noonan Syndrome 1

About this section
Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot, 71Wikipedia
See all MalaCards sources

Aliases & Descriptions for Noonan Syndrome 1:

Name: Noonan Syndrome 1 52 11 48 70 27 12
Noonan Syndrome 11 71 23 48 24 25 54 70 50 39 13 68
Female Pseudo-Turner Syndrome 48 25 70
Male Turner Syndrome 48 25 70
Turner Phenotype with Normal Karyotype 25 70
Pseudo-Ullrich-Turner Syndrome 48 25
Ullrich-Noonan Syndrome 48 25
Noonan-Ehmke Syndrome 48 25
Noonan's Syndrome 25 27
Ns1 11 70
 
Noonan Syndrome-Like Disorder with Multiple Giant Cell Lesions 70
Noonan Syndrome with Pigmented Villonodular Synovitis 70
Noonan-Like/multiple Giant Cell Lesion Syndrome 70
Turner Syndrome in Female with X Chromosome 25
Turner's Phenotype, Karyotype Normal 11
Familial Turner Syndrome 25
Pterygium Colli Syndrome 70
Turner Syndrome, Male 68
Turner-Like Syndrome 25
Ns 25

Characteristics:

Orphanet epidemiological data:

54
noonan syndrome:
Inheritance: Autosomal dominant; Prevalence: 6-9/10000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy

HPO:

64
noonan syndrome 1:
Inheritance: autosomal dominant inheritance, heterogeneous

GeneReviews:

23
Penetrance: penetrance of ns is difficult to determine because of ascertainment bias and variable expressivity with frequent subtlety of features. many affected adults are diagnosed only after the birth of a more obviously affected infant...


Classifications:



External Ids:

OMIM52 163950
Disease Ontology11 DOID:0060578, DOID:3490
ICD1030 Q87.1
MeSH39 D009634
Orphanet54 ORPHA648
UMLS via Orphanet69 C0028326
ICD10 via Orphanet31 Q87.1
MESH via Orphanet40 D009634

Summaries for Noonan Syndrome 1

About this section
OMIM:52 Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide... (163950) more...

MalaCards based summary: Noonan Syndrome 1, also known as noonan syndrome, is related to noonan-like/multiple giant cell lesion syndrome and noonan syndrome with multiple lentigines, and has symptoms including Array, Array and Array. An important gene associated with Noonan Syndrome 1 is PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11), and among its related pathways are ERK Pathway in Huntingtons Disease and NK1R-mediated Non-Apoptotic PCD. Affiliated tissues include heart, skin and spleen, and related mouse phenotypes are Increased cell migration and Decreased viability.

Disease Ontology:11 A Noonan syndrome disease type 1 that has material basis in the PTPN11 gene on chromosome 12q24.

Genetics Home Reference:25 Noonan syndrome is a condition that affects many areas of the body. It is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms.

NIH Rare Diseases:48 Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. features of noonan syndrome may 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 a mutation in any of several genes, and can be classified into subtypes based on the responsible gene. it is typically inherited in an autosomal dominant manner but many cases are due to a new mutation and are not inherited from an affected parent. treatment depends on the symptoms present in each person. noonan syndrome belongs to a group of related conditions called the rasopathies. these conditions have some overlapping features and are all caused by genetic changes that disrupt the body's ras pathway, affecting growth and development. other conditions in this group include:neurofibromatosis type 1 leopard syndrome, also called noonan syndrome with multiple lentigines  costello syndrome cardiofaciocutaneous syndrome legius syndrome capillary malformation–arteriovenous malformation syndrome last updated: 6/28/2016

UniProtKB/Swiss-Prot:70 Noonan syndrome 1: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. Some patients with NS1 develop multiple giant cell lesions of the jaw or other bony or soft tissues, which are classified as pigmented villonodular synovitis (PVNS) when occurring in the jaw or joints.

Wikipedia:71 Noonan syndrome (NS) is a relatively common autosomal dominant congenital disorder and is named after... more...

GeneReviews for NBK1124

Related Diseases for Noonan Syndrome 1

About this section

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 6 Noonan Syndrome 8
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 7 Noonan Syndrome 3
Noonan Syndrome 9 Noonan Syndrome 10
Noonan Syndrome 2 Braf-Related Noonan Syndrome
Kras-Related Noonan Syndrome Lztr1-Related Noonan Syndrome
Map2k1-Related Noonan Syndrome Nras-Related Noonan Syndrome
Ptpn11-Related Noonan Syndrome Raf1-Related Noonan Syndrome
Rit1-Related Noonan Syndrome Sos1-Related Noonan Syndrome
Sos2-Related Noonan Syndrome

Diseases related to Noonan Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 89)
idRelated DiseaseScoreTop Affiliating Genes
1noonan-like/multiple giant cell lesion syndrome12.7
2noonan syndrome with multiple lentigines12.2
3neurofibromatosis-noonan syndrome12.2
4escobar syndrome11.2
5ptpn11-related noonan syndrome10.8
6leukemia, acute myelomonocytic, somatic, somatic10.7
7noonan syndrome 810.7
8cardiofaciocutaneous syndrome10.7
9noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia10.7
10noonan syndrome 310.7
11noonan syndrome 910.7
12noonan syndrome 1010.7
13influenza10.6
14polg-related disorders10.4BRAF, PTPN11, RAF1
15erythrocyte lactate transporter defect10.4HRAS, KRAS, NRAS
16melanocytic nevus syndrome, congenital, somatic10.3HRAS, KRAS, NRAS
17growth hormone insensitivity with immunodeficiency10.3MAP2K2, NF1, PTPN11
18malignant skin fibrous histiocytoma10.3HRAS, KRAS
19parotid gland adenoid cystic carcinoma10.3HRAS, MAP2K1, NRAS
20ossifying fibromyxoid tumor10.3HRAS, KRAS, NRAS
21familial hyperaldosteronism10.3HRAS, KRAS, NRAS
22brachial plexus neuropathy10.3HRAS, KRAS, RAF1
23spongiotic dermatitis10.3HRAS, KRAS, MAP2K1, NRAS
24microtia, hearing impairment, and cleft palate10.3GHR, IGF1, IGFBP3
25sohval soffer syndrome10.3IGF1, IGFBP3
26non-distal monosomy 10q10.3BRAF, HRAS, KRAS, NRAS
27epileptic encephalopathy, early infantile, 2410.3GHR, IGF1, IGFBP3
28protein s deficiency10.3GHR, IGF1, IGFBP3
29seborrheic dermatitis10.3HRAS, NF1, PTPN11, RASA2
30congenital symblepharon10.3HRAS, IGF1, IGFBP3, KRAS
31encephalitis10.3
32progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.3BRAF, HRAS, MAP2K1, NRAS
33deafness, autosomal dominant 2510.3GHR, IGF1
34gynandroblastoma10.2GHR, IGF1, IGFBP3
35nephrolithiasis10.2HRAS, NF1, NRAS, PTPN11, SHOC2
36oral squamous cell carcinoma10.2BRAF, HRAS, KRAS
37pseudomonas stutzeri infections10.2BRAF, KRAS, NRAS, PTPN11, RAF1, RIT1
38hyperproinsulinemia10.2HRAS, KRAS, MAP2K1, MAP2K2, PTPN11, SOS1
39rdh12-related leber congenital amaurosis10.2BRAF, KRAS, NRAS, PTPN11, RAF1, RIT1
40skin epithelioid hemangioma10.2BRAF, HRAS, MAP2K1, NF1, PTPN11, RAF1
41vestibular gland benign neoplasm10.2HRAS, IGF1, KRAS
42medullary cystic kidney disease 110.2HRAS, KRAS, NF1, NRAS, PTPN11, SHOC2
43glomeruloid hemangioma10.2BRAF, HRAS, KRAS, NF1, NRAS, PTPN11
44avian influenza10.2
45peritoneal mesothelioma10.1BRAF, HRAS, KRAS, NRAS
46syndactyly-polydactyly-earlobe syndrome10.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
47japanese encephalitis10.1
48chromosome 15q11-q13 duplication syndrome10.1BRAF, HRAS, MAP2K1, NF1, PTPN11, RAF1
49leopard syndrome 310.1BRAF, HRAS, KRAS, MAP2K1, MAP2K2, PTPN11
50west nile virus10.0

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



Diseases related to noonan syndrome 1

Symptoms & Phenotypes for Noonan Syndrome 1

About this section

Symptoms by clinical synopsis from OMIM:

163950

Clinical features from OMIM:

163950

Human phenotypes related to Noonan Syndrome 1:

 54 64 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism64 54 Frequent (79-30%) HP:0000028
2 hypogonadotrophic hypogonadism64 54 Very frequent (99-80%) HP:0000044
3 abnormality of the genital system54 Frequent (79-30%)
4 thick lower lip vermilion64 54 Very frequent (99-80%) HP:0000179
5 high palate64 54 Very frequent (99-80%) HP:0000218
6 hypertelorism64 54 Very frequent (99-80%) HP:0000316
7 triangular face64 54 Very frequent (99-80%) HP:0000325
8 micrognathia64 54 Very frequent (99-80%) HP:0000347
9 high forehead64 54 Very frequent (99-80%) HP:0000348
10 low-set, posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000368
11 thickened helices64 54 Very frequent (99-80%) HP:0000391
12 sensorineural hearing impairment64 54 Occasional (29-5%) HP:0000407
13 webbed neck64 54 Very frequent (99-80%) HP:0000465
14 thickened nuchal skin fold64 54 Very frequent (99-80%) HP:0000474
15 cystic hygroma64 54 Very frequent (99-80%) HP:0000476
16 strabismus64 54 Frequent (79-30%) HP:0000486
17 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
18 ptosis64 54 Very frequent (99-80%) HP:0000508
19 proptosis64 54 Very frequent (99-80%) HP:0000520
20 nystagmus64 54 Occasional (29-5%) HP:0000639
21 pectus excavatum64 54 Very frequent (99-80%) HP:0000767
22 pectus carinatum64 54 Very frequent (99-80%) HP:0000768
23 melanocytic nevus64 54 Occasional (29-5%) HP:0000995
24 lymphedema64 54 Occasional (29-5%) HP:0001004
25 brachydactyly syndrome64 54 Occasional (29-5%) HP:0001156
26 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
27 dysarthria64 54 Very frequent (99-80%) HP:0001260
28 muscle weakness64 54 Very frequent (99-80%) HP:0001324
29 abnormality of the pulmonary valve64 54 Frequent (79-30%) HP:0001641
30 abnormality of the spleen64 54 Frequent (79-30%) HP:0001743
31 abnormal bleeding64 54 Frequent (79-30%) HP:0001892
32 abnormality of coagulation64 54 Frequent (79-30%) HP:0001928
33 low posterior hairline64 54 Frequent (79-30%) HP:0002162
34 neurological speech impairment54 Very frequent (99-80%)
35 coarse hair64 54 Frequent (79-30%) HP:0002208
36 hepatomegaly64 54 Frequent (79-30%) HP:0002240
37 malformation of the heart and great vessels54 Very frequent (99-80%)
38 scoliosis64 54 Frequent (79-30%) HP:0002650
39 delayed skeletal maturation64 54 Frequent (79-30%) HP:0002750
40 radioulnar synostosis64 54 Occasional (29-5%) HP:0002974
41 clinodactyly of the 5th finger64 54 Occasional (29-5%) HP:0004209
42 short stature64 54 Very frequent (99-80%) HP:0004322
43 pulmonary artery stenosis64 54 Very frequent (99-80%) HP:0004415
44 joint hyperflexibility64 54 Very frequent (99-80%) HP:0005692
45 wide intermamillary distance64 54 Very frequent (99-80%) HP:0006610
46 abnormal dermatoglyphics64 54 Frequent (79-30%) HP:0007477
47 feeding difficulties in infancy64 54 Frequent (79-30%) HP:0008872
48 aplasia/hypoplasia of the abdominal wall musculature64 54 Very frequent (99-80%) HP:0010318
49 abnormal hair quantity64 54 Frequent (79-30%) HP:0011362
50 aplasia of the semicircular canal64 54 Occasional (29-5%) HP:0011381
51 arrhythmia64 54 Frequent (79-30%) HP:0011675
52 midface retrusion64 54 Very frequent (99-80%) HP:0011800
53 abnormal platelet function64 54 Frequent (79-30%) HP:0011869
54 enlarged thorax64 54 Very frequent (99-80%) HP:0100625
55 abnormality of the lymphatic system54 Frequent (79-30%)
56 hypogonadism64 HP:0000135
57 epicanthus64 HP:0000286
58 short neck64 HP:0000470
59 myopia64 HP:0000545
60 dental malocclusion64 HP:0000689
61 shield chest64 HP:0000914
62 pectus excavatum of inferior sternum64 HP:0000915
63 superior pectus carinatum64 HP:0000917
64 intellectual disability64 HP:0001249
65 failure to thrive in infancy64 HP:0001531
66 ventricular septal defect64 HP:0001629
67 atrial septal defect64 HP:0001631
68 hypertrophic cardiomyopathy64 HP:0001639
69 pulmonic stenosis64 HP:0001642
70 patent ductus arteriosus64 HP:0001643
71 coarctation of aorta64 HP:0001680
72 high, narrow palate64 HP:0002705
73 kyphoscoliosis64 HP:0002751
74 cubitus valgus64 HP:0002967
75 male infertility64 HP:0003251
76 reduced factor xii activity64 HP:0004841
77 amegakaryocytic thrombocytopenia64 HP:0004859
78 reduced factor xiii activity64 HP:0008357
79 postnatal growth retardation64 HP:0008897
80 radial deviation of finger64 HP:0009466
81 clinodactyly64 HP:0030084
82 neurofibrosarcoma64 HP:0100697
83 synovitis64 HP:0100769

GenomeRNAi Phenotypes related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00055-A-310.4BRAF, HRAS, KRAS, NF1, SOS1
2GR00381-A-110.3HRAS, KRAS, NF1, NRAS, RAF1
3GR00055-A-110.2BRAF, HRAS, KRAS, MAP2K2, NF1, SOS1
4GR00366-A-1929.9BRAF, NF1, PTPN11, RAF1, SOS1
5GR00366-A-849.5A2ML1, NF1, NRAS, RAF1, RASA2

MGI Mouse Phenotypes related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

41 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.3BRAF, IGFBP3, KRAS, NF1, NRAS, PTPN11
2MP:00053779.9BRAF, IGF1, KRAS, MAP2K1, MAP2K2, NF1
3MP:00053829.8BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
4MP:00053919.8BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
5MP:00053819.8BRAF, KRAS, MAP2K1, MAP2K2, NF1, NRAS
6MP:00020069.7BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
7MP:00053889.7BRAF, HRAS, IGF1, KRAS, NF1, PTPN11
8MP:00053709.7BRAF, GHR, IGFBP3, KRAS, NF1, NRAS
9MP:00053809.6BRAF, GHR, KRAS, MAP2K1, NF1, NRAS
10MP:00053699.6BRAF, GHR, IGF1, IGFBP3, KRAS, NF1
11MP:00053909.4BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
12MP:00053849.2BRAF, GHR, IGF1, KRAS, MAP2K1, MAP2K2
13MP:00028739.2BRAF, HRAS, IGF1, KRAS, MAP2K1, MAP2K2
14MP:00053859.0BRAF, GHR, HRAS, IGF1, KRAS, MAP2K1
15MP:00053799.0BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
16MP:00107688.9BRAF, GHR, HRAS, IGF1, KRAS, LZTR1
17MP:00053788.8BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
18MP:00053768.8BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS
19MP:00107718.8BRAF, GHR, HRAS, IGF1, IGFBP3, KRAS

Drugs & Therapeutics for Noonan Syndrome 1

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Drugs for Noonan Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 39)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
SimvastatinapprovedPhase 351979902-63-954454
Synonyms:
(+)-Simvastatin
(1S,3R,7S,8S,8aR)-8-{2-[(2R,4R)-4-hydroxy-6-oxotetrahydro-2H-pyran-2-yl]ethyl}-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl 2,2-dimethylbutanoate
2,2-Dimethylbutanoic acid (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8aR)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
2,2-Dimethylbutyric acid, 8-ester with (4R,6R)-6-(2-((1S,2S,6R,8S,8ar)-1,2,6,7,8,8a-hexahydro-8-hydroxy-2,6-dimethyl-1-naphthyl)ethyl)tetrahydro-4-hydroxy-2H-pyran-2-one
79902-63-9
AC-1530
AC1L1H1F
AKOS005111006
ARONIS24119
BCBcMAP01_000007
BIDD:GT0769
BPBio1_001001
BRD-K22134346-001-05-8
BRN 4768037
BSPBio_000909
BSPBio_002337
Bio-0672
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,*aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-(2-((2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)ethyl)-1-naphthalenyl ester
Butanoic acid, 2,2-dimethyl-, (1S,3R,7S,8S,8aR)-1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-[(2R,4R)-tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl]ethyl]-1-naphthalenyl ester
C25H38O5
CCRIS 7558
CHEBI:9150
CHEMBL1064
CID54454
CPD000718785
Cholestat
Coledis
Colemin
Corolin
D00434
D019821
DRG-0320
Denan
DivK1c_006991
Eucor
HMS1570N11
HMS1922H13
HMS2089D12
HMS2093E06
HSDB 7208
InChI=1/C25H38O5/c1-6-25(4,5)24(28)30-21-12-15(2)11-17-8-7-16(3)20(23(17)21)10-9-19-13-18(26)14-22(27)29-19/h7-8,11,15-16,18-21,23,26H,6,9-10,12-14H2,1-5H3/t15-,16-,18+,19+,20-,21-,23-/m0/s1
KBio1_001935
KBio2_002197
KBio2_004765
KBio2_007333
KBio3_001557
KBioGR_001244
KBioSS_002197
KS-1113
Kolestevan
L 644128-000U
LS-46264
Labistatin
Lipex
Lipinorm
Liponorm
Lipovas
Lodales
MK 0733
MK 733
MK-0733
MK-733
MK733
MLS001304029
MLS001333077
MLS001333078
 
MLS002154038
Medipo
Modutrol
MolPort-002-507-345
MolPort-002-885-862
NCGC00017324-01
NCGC00017324-02
NCGC00017324-03
Nivelipol
Nor-Vastina
Pantok
Pepstatin
Prestwick0_000865
Prestwick1_000865
Prestwick2_000865
Prestwick3_000865
Prestwick_171
Rechol
Rendapid
S1792_Selleck
S6196_SIGMA
SAM002589969
SMR000718785
SPBio_001881
SPBio_002830
SPECTRUM1504236
STK801938
Simcor
Simovil
Simvast CR
Simvastatin
Simvastatin & Primycin
Simvastatin (JAN/USP/INN)
Simvastatin [USAN:INN:BAN]
Simvastatin [Usan:Ban:Inn]
Simvastatin lactone
Simvastatin, Compactin
Simvastatina
Simvastatina [Spanish]
Simvastatine
Simvastatine [French]
Simvastatinum
Simvastatinum [Latin]
Simvotin
Sinvacor
Sinvascor
Sivastin
SpecPlus_000895
Spectrum2_001671
Spectrum3_000669
Spectrum4_000632
Spectrum5_001428
Spectrum_001717
Statin
Synvinolin
TNP00259
UNII-AGG2FN16EV
Valemia
Vasotenal
Velostatin
Vytorin
ZINC03780893
Zocor
Zocor (TN)
Zocor, Simlup, Simcard, Simvacor, Simvoget, Zorced, Simvastatin
Zocord
[(1S,3R,7S,8S,8aR)-8-[2-[(2R,4R)-4-hydroxy-6-oxooxan-2-yl]ethyl]-3,7-dimethyl-1,2,3,7,8,8a-hexahydronaphthalen-1-yl] 2,2-dimethylbutanoate
butanoic acid, 2,2-dimethyl-,1,2,3,7,8,8a-hexahydro-3,7-dimethyl-8-[2-(tetrahydro-4-hydroxy-6-oxo-2H-pyran-2-yl)-ethyl]-1-naphthalenyl ester, [1S-[1 alpha,3 alpha,7 beta,8 beta(2S*,4S*),-8a beta
nchembio790-comp16
simvastatin
2
Ivermectinapproved, vet_approvedPhase 2, Phase 36170288-86-76474909, 46936176
Synonyms:
(2aE,4E,5'S,6S,6'R,7S,8E,11R,13R,15S,17aR,20R,20aR,20bS)-20,20b-dihydroxy-5',6,8,19-tetramethyl-6'-[(1S)-1-methylpropyl]-17-oxo-3',4',5',6,6',10,11,14,15,17,17a,20,20a,20b-tetradecahydro-2H,7H-spiro[11,15-methanofuro[4,3,2-pq][2,6]benzodioxacyclooctadecine-13,2'-pyran]-7-yl 2,6-dideoxy-4-O-(2,6-dideoxy-3-O-methyl-alpha-L-arabino-hexopyranosyl)-3-O-methyl-alpha-L-arabino-hexopyranoside
22,23-Dihydroxy-avermectin B
22,23-Dihyroavermectin B1
5-O-Demethyl-22,23-dihydro-avermectin A1a
71827-03-7
AB00513813
AC1MJ4GR
AC1N7O27
BPBio1_000322
BRD-K24652731-001-02-7
BSPBio_000292
CHEMBL341047
CID11957587
CID4330618
CID6321424
CID6419971
CID6427057
EU-0100693
FT-0082656
HMS1568O14
 
HMS2089M09
I 8898
I8898_SIGMA
IVERMECTIN
Ivermectin
Ivermectina
Ivermectine
Ivermectinum
Lopac0_000693
MK-933
MLS001333247
MLS001333248
MLS002153248
MolPort-006-394-715
NCGC00094047-01
NCGC00094047-02
NCGC00094047-03
Prestwick2_000156
Prestwick3_000156
Prestwick_516
S1351_Selleck
SMR000857211
3Hormone AntagonistsPhase 313180
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 313168
5HormonesPhase 314415
6Antiparasitic AgentsPhase 2, Phase 32199
7Anti-Infective AgentsPhase 2, Phase 322062
8Lipid Regulating AgentsPhase 32766
9Anticholesteremic AgentsPhase 32025
10Hypolipidemic AgentsPhase 32785
11AntimetabolitesPhase 312054
12Hydroxymethylglutaryl-CoA Reductase InhibitorsPhase 31998
13
LenograstimapprovedPhase 21220135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA
14
Histamineapproved, investigationalPhase 2105075614-87-8, 51-45-6774
Synonyms:
.beta.-Imidazolyl-4-ethylamine
1H-Imidazole-4-ethanamine
1H-Imidazole-5-ethanamine
1avn
1qft
2-(1H-Imidazol-4-yl)ethanamine
2-(1H-Imidazol-4-yl)ethylamine
2-(1H-Imidazol-5-yl)ethanamine
2-(1H-Imidazol-5-yl)ethylamine
2-(1H-imidazol-4-yl)ethan-1-amine
2-(1H-imidazol-5-yl)ethanamine
2-(3H-Imidazol-4-yl)-ethylamine
2-(4-Imidazolyl)ethanamine
2-(4-Imidazolyl)ethylamine
2-(4-imidazolyl)ethylamine
2-Imidazol-4-yl-Ethylamine
2-Imidazol-4-ylethylamine
2-[4-Imidazolyl]ethylamine
4-(2-Aminoethyl)-1H-imidazole
4-(2-Aminoethyl)imidazole
4-Imidazoleethylamine
4-imidazoleethylamine
5-Imidazoleethylamine
5-imidazoleethylamine
51-45-6
53290_FLUKA
64422-25-9
924364-91-0
AC-13185
AC1L19ZT
AC1Q54BV
AC1Q54BW
AKOS000274386
ALBB-005968
BCBcMAP01_000250
BSPBio_001117
BSPBio_002124
Bio1_000487
Bio1_000976
Bio1_001465
Bio2_000389
Bio2_000869
C00388
CCRIS 6535
CHEBI:18295
CHEMBL90
CID774
D08040
DivK1c_000308
EINECS 200-100-6
Eramin
Ergamine
Ergotidine
F411C768-A159-4FC0-A195-291A08BB03AA
Free histamine
H7125_SIGMA
HMS1362G19
HMS1792G19
HMS1990G19
HSDB 3338
HSM
Histamine
Histamine (DCF)
Histamine Base
Histamine [USAN]
Histamine, Free Base
Histaminum
 
Histaminum (TN)
IDI1_000308
IDI1_002144
Imidazole-4-ethylamine
Istamina
Istamina [Italian]
KBio1_000308
KBio2_000457
KBio2_001325
KBio2_003025
KBio2_003893
KBio2_005593
KBio2_006461
KBio3_000853
KBio3_000854
KBio3_001344
KBioGR_000457
KBioGR_001580
KBioSS_000457
KBioSS_001325
L-Histamin base
L-Histamine
L-histamine
L000292
LS-75835
Lopac-H-7250
Lopac0_000595
MLS000069447
MolPort-001-785-597
MolPort-002-042-264
NCGC00015513-01
NCGC00015513-08
NCGC00093371-02
NCGC00093371-03
NCGC00093371-04
NCGC00093371-05
NINDS_000308
NSC 33792
NSC33792
SDCCGMLS-0066601.P001
SMP1_000151
SMR000059091
SPBio_000729
ST073926
STK346752
STOCK5S-55669
Spectrum2_000665
Spectrum3_000452
Spectrum4_000960
Spectrum5_000796
Spectrum_000845
Theramine
UNII-820484N8I3
WLN: T5M CNJ D2Z
ZERO/004089
[3H]histamine
b-Imidazolyl-4-ethylamine
beta-Aminoethylglyoxaline
beta-Aminoethylimidazole
beta-Aminothethylglyoxaline
beta-Imidazolyl-4-ethylamine
beta-aminoethylglyoxaline
beta-aminoethylimidazole
beta-aminothethylglyoxaline
bmse000744
histamine
nchembio.87-comp54
nchembio714-comp1
15
ZincapprovedPhase 222967440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
16Histamine H1 Antagonists, Non-SedatingPhase 2359
17mometasone furoatePhase 217883919-23-7
18
Histamine PhosphatePhase 2104951-74-165513
Synonyms:
1H-Imidazole-4-ethanamine, phosphate (1:2)
2-Imidazol-4-ylethylamine orthophosphoric acid (1:2)
4-(2-Aminoethyl)imidazole bis(dihydrogen phosphate)
4-(2-Aminoethyl)imidazole di-acid phosphate
4-2(2-Aminoethyl)Imidazole-Di-Acid Phosphate
51-74-1
53623-99-7
74-56-6
AC1L23E4
CID65513
D04445
DB00667
 
EINECS 200-118-4
H0147
Histamine acid phosphate
Histamine biphosphate
Histamine dihydrogen phosphate
Histamine diphosphate
Histamine phosphate (1:2)
Histamine phosphate (TN)
Histamine phosphate (USP)
Histamine phosphate [USP]
Histamine positive
LS-78569
UNII-QWB37T4WZZ
19Neurotransmitter AgentsPhase 218340
20Insulin, Globin ZincPhase 24645
21Hypoglycemic AgentsPhase 25896
22Peripheral Nervous System AgentsPhase 223689
23Olopatadine HydrochloridePhase 251
24insulinPhase 24646
25Antirheumatic AgentsPhase 210956
26Histamine H1 AntagonistsPhase 2791
27AnalgesicsPhase 211733
28Adjuvants, ImmunologicPhase 22554
29Anti-Allergic AgentsPhase 21522
30Analgesics, Non-NarcoticPhase 26501
31Anti-Inflammatory AgentsPhase 210729
32Dermatologic AgentsPhase 25806
33Histamine AntagonistsPhase 2961
34Anti-Inflammatory Agents, Non-SteroidalPhase 24443
35MitogensPhase 21617
36
Aluminum hydroxideapprovedPhase 121021645-51-2
Synonyms:
Al(OH)3
Aluminium hydroxide
Aluminium hydroxide gel, dried
 
Aluminium hydroxide, dried
Aluminum hydroxide gel, dried
Aluminum hydroxide, dried
Dried aluminium hydroxide
Dried aluminum hydroxide gel
37Aluminum sulfatePhase 192
38VaccinesPhase 16611
39monensin17

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan SyndromeCompletedNCT01529840Phase 3
2Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's SyndromeCompletedNCT00452725Phase 3
3Genetic Testing of Noonan Subjects Previously Treated With Norditropin®. An Extension to Trial GHNOO-1658CompletedNCT01529944Phase 3
4Treatment With HMG-COA Reductase Inhibitor of Growth and Bone Abnormalities in Children With Noonan SyndromeRecruitingNCT02713945Phase 3
5Efficacy and Safety of Ivermectin Against Dengue InfectionRecruitingNCT02045069Phase 2, Phase 3
6Investigating the Long-term Efficacy and Safety of Two Doses of NN-220 (Somatropin) in Short Stature Due to Noonan SyndromeActive, not recruitingNCT01927861Phase 3
7G-CSF Treatment for Amyotrophic Lateral Sclerosis: A RCT Study Assessing Clinical ResponseCompletedNCT00397423Phase 2
8To Study GSP 301 in Patients With Seasonal Allergic RhinitisCompletedNCT02318303Phase 2
9Celgosivir as a Treatment Against DengueCompletedNCT01619969Phase 1, Phase 2
10Celgosivir or Modipafant as Treatment for Adult Participants With Uncomplicated Dengue Fever in SingaporeNot yet recruitingNCT02569827Phase 1, Phase 2
11Research Study Using Recombinant Human Insulin-Like Growth Factor-1/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 for Children With Noonan SyndromeTerminatedNCT00351221Phase 2
12Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic CardiomyopathyWithdrawnNCT01556568Phase 2
13Zika Virus Purified Inactivated Vaccine (ZPIV) Accelerated Vaccination Schedule StudyRecruitingNCT02937233Phase 1
14Seroepidemiology of Japanese Encephalitis Virus Infection in Hualien, TaiwanUnknown statusNCT01163123
15Study of Metabolic Modifications in Children With Noonan SyndromeCompletedNCT02383316
16Dengue Virus NS1 Antigen (Bio-Rad) Clinical ProtocolCompletedNCT01226173
17Specificity Study of Diagnostic for Early Detection of Dengue InfectionCompletedNCT02107677
18Diagnosis and Characterization of Dengue Fever in ChildrenCompletedNCT00946218
19Laboratory Diagnosis and Prognosis of Severe DengueCompletedNCT01421732
20Comparative Trial in Compression Therapy in Leg LymphedemaCompletedNCT00665379
21Observational Prospective Study on Patients Treated With Norditropin®CompletedNCT00960128
22Diagnosing Dengue: Evaluating the Utility of Oral Fluid for Dengue DiagnosisRecruitingNCT02435615
23Familial Investigations of Childhood Cancer PredispositionRecruitingNCT03050268
24This Study Will Describe the Burden of DENgue Fever Virus (DENV) Illness Among Household Members Aged 6 Months to 50 Years of Selected Communities in Latin America and Southeast AsiaRecruitingNCT02766088
25Sensitivity Study of Diagnostic for Early Detection of Dengue InfectionActive, not recruitingNCT02059122
26Hormonal Sensitivity in Patients With Noonan and LEOPARD SyndromesNot yet recruitingNCT02486731

Search NIH Clinical Center for Noonan Syndrome 1


Cochrane evidence based reviews: noonan syndrome

Genetic Tests for Noonan Syndrome 1

About this section

Genetic tests related to Noonan Syndrome 1:

id Genetic test Affiliating Genes
1 Noonan Syndrome 127
2 Noonan Syndrome27 24 SOS1

Anatomical Context for Noonan Syndrome 1

About this section

MalaCards organs/tissues related to Noonan Syndrome 1:

36
Heart, Skin, Spleen, Eye

Publications for Noonan Syndrome 1

About this section

Variations for Noonan Syndrome 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 1:

70 (show all 39)
id Symbol AA change Variation ID SNP ID
1PTPN11p.Thr42AlaVAR_015601rs397507501
2PTPN11p.Gly60AlaVAR_015602rs397507509
3PTPN11p.Asp61GlyVAR_015603rs121918461
4PTPN11p.Asp61AsnVAR_015604rs397507510
5PTPN11p.Tyr62AspVAR_015605rs121918460
6PTPN11p.Tyr63CysVAR_015606rs121918459
7PTPN11p.Ala72GlyVAR_015607rs121918454
8PTPN11p.Ala72SerVAR_015608rs121918453
9PTPN11p.Thr73IleVAR_015609rs28933387
10PTPN11p.Glu76AspVAR_015610rs397507514
11PTPN11p.Gln79ArgVAR_015611rs121918466
12PTPN11p.Asp106AlaVAR_015612rs397507517
13PTPN11p.Glu139AspVAR_015613rs397507520
14PTPN11p.Tyr279CysVAR_015614rs121918456
15PTPN11p.Ile282ValVAR_015615rs397507529
16PTPN11p.Phe285SerVAR_015616rs121918463
17PTPN11p.Phe285LeuVAR_015617rs397507531
18PTPN11p.Asn308SerVAR_015618rs121918455
19PTPN11p.Asn308AspVAR_015619rs28933386
20PTPN11p.Arg505LysVAR_015622rs397507543
21PTPN11p.Ser506ThrVAR_015623rs121918458
22PTPN11p.Met508ValVAR_015624rs397507547
23PTPN11p.Gly507ArgVAR_016003rs397507545
24PTPN11p.Thr2IleVAR_027183rs267606990
25PTPN11p.Asn58LysVAR_027184rs397507506
26PTPN11p.Glu69GlnVAR_027185rs397507511
27PTPN11p.Gln79ProVAR_027186
28PTPN11p.Gln256ArgVAR_027187rs397507523
29PTPN11p.Thr415MetVAR_027189rs121918467
30PTPN11p.Gln510ArgVAR_027195
31PTPN11p.Leu564PheVAR_027197rs397516797
32PTPN11p.Thr59AlaVAR_066060
33PTPN11p.Pro495SerVAR_071706rs397507539
34PTPN11p.Gln514GluVAR_076499rs397507549
35PTPN11p.Leu261PheVAR_078101
36PTPN11p.Leu261HisVAR_078102
37PTPN11p.Leu262PheVAR_078103
38PTPN11p.Leu262ArgVAR_078104
39PTPN11p.Arg265GlnVAR_078105

Clinvar genetic disease variations for Noonan Syndrome 1:

5 (show all 145)
id Gene Variation Type Significance SNP ID Assembly Location
1RAF1NM_ 002880.3(RAF1): c.782C> T (p.Pro261Leu)SNVPathogenic/ Likely pathogenicrs397516828GRCh38Chr 3, 12604188: 12604188
2RIT1NM_ 006912.5(RIT1): c.270G> A (p.Met90Ile)SNVPathogenicrs483352822GRCh38Chr 1, 155904470: 155904470
3KRASNM_ 004985.4(KRAS): c.173C> T (p.Thr58Ile)SNVPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
4SOS1NM_ 005633.3(SOS1): c.797C> A (p.Thr266Lys)SNVPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
5SOS1NM_ 005633.3(SOS1): c.806T> G (p.Met269Arg)SNVPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
6SOS1NM_ 005633.3(SOS1): c.1654A> G (p.Arg552Gly)SNVPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
7SOS1NM_ 005633.3(SOS1): c.1656G> C (p.Arg552Ser)SNVPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
8SOS1NM_ 005633.3(SOS1): c.1294T> C (p.Trp432Arg)SNVPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
9PTPN11NM_ 002834.4(PTPN11): c.214G> T (p.Ala72Ser)SNVPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
10PTPN11NM_ 002834.4(PTPN11): c.215C> G (p.Ala72Gly)SNVPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
11PTPN11NM_ 002834.4(PTPN11): c.922A> G (p.Asn308Asp)SNVPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
12PTPN11NM_ 002834.4(PTPN11): c.923A> G (p.Asn308Ser)SNVPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
13PTPN11NM_ 002834.4(PTPN11): c.836A> G (p.Tyr279Cys)SNVPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
14PTPN11NM_ 002834.4(PTPN11): c.184T> G (p.Tyr62Asp)SNVPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
15PTPN11NM_ 002834.4(PTPN11): c.182A> G (p.Asp61Gly)SNVPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
16PTPN11NM_ 002834.4(PTPN11): c.1403C> T (p.Thr468Met)SNVPathogenic/ Likely pathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
17PTPN11NM_ 002834.4(PTPN11): c.1504T> A (p.Ser502Thr)SNVPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
18PTPN11NM_ 002834.4(PTPN11): c.188A> G (p.Tyr63Cys)SNVPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
19PTPN11NM_ 002834.4(PTPN11): c.218C> T (p.Thr73Ile)SNVPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
20PTPN11NM_ 002834.4(PTPN11): c.854T> C (p.Phe285Ser)SNVPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
21PTPN11NM_ 002834.4(PTPN11): c.226G> A (p.Glu76Lys)SNVPathogenic/ Likely pathogenicrs121918464GRCh37Chr 12, 112888210: 112888210
22PTPN11NM_ 002834.4(PTPN11): c.236A> G (p.Gln79Arg)SNVPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
23PTPN11NM_ 002834.4(PTPN11): c.1232C> T (p.Thr411Met)SNVPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
24PTPN11NM_ 002834.4(PTPN11): c.1529A> G (p.Gln510Arg)SNVPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
25PTPN11NM_ 002834.3(PTPN11): c.179_ 181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
26PTPN11NM_ 002834.4(PTPN11): c.5C> T (p.Thr2Ile)SNVPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
27NRASNM_ 002524.4(NRAS): c.149C> T (p.Thr50Ile)SNVPathogenicrs267606921GRCh38Chr 1, 114713941: 114713941
28NRASNM_ 002524.4(NRAS): c.179G> A (p.Gly60Glu)SNVPathogenicrs267606920GRCh37Chr 1, 115256532: 115256532
29RAF1NM_ 002880.3(RAF1): c.770C> T (p.Ser257Leu)SNVPathogenic/ Likely pathogenicrs80338796GRCh37Chr 3, 12645699: 12645699
30RAF1NM_ 002880.3(RAF1): c.781C> T (p.Pro261Ser)SNVPathogenic/ Likely pathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
31RAF1NM_ 002880.3(RAF1): c.1837C> G (p.Leu613Val)SNVPathogenic/ Likely pathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
32BRAFNM_ 004333.4(BRAF): c.1789C> G (p.Leu597Val)SNVPathogenic/ Likely pathogenicrs121913369GRCh37Chr 7, 140453146: 140453146
33RAF1NM_ 002880.3(RAF1): c.1172G> T (p.Arg391Met)SNVLikely pathogenicrs587782972GRCh37Chr 3, 12633228: 12633228
34PTPN11NM_ 002834.4(PTPN11): c.598A> T (p.Asn200Tyr)SNVPathogenic/ Likely pathogenicrs727503381GRCh37Chr 12, 112892440: 112892440
35RAF1NM_ 002880.3(RAF1): c.285C> G (p.Cys95Trp)SNVLikely pathogenicrs727503384GRCh37Chr 3, 12653484: 12653484
36KRASNM_ 004985.4(KRAS): c.214A> T (p.Met72Leu)SNVPathogenicrs727504662GRCh37Chr 12, 25380244: 25380244
37PTPN11NM_ 002834.4(PTPN11): c.182A> C (p.Asp61Ala)SNVLikely pathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
38RIT1NM_ 006912.5(RIT1): c.246T> G (p.Phe82Leu)SNVPathogenicrs730881014GRCh38Chr 1, 155904494: 155904494
39RIT1NM_ 006912.5(RIT1): c.104G> C (p.Ser35Thr)SNVPathogenicrs869025189GRCh38Chr 1, 155910658: 155910658
40RIT1NM_ 006912.5(RIT1): c.151G> T (p.Asp51Tyr)SNVLikely pathogenicrs869025190GRCh38Chr 1, 155910462: 155910462
41RIT1NM_ 006912.5(RIT1): c.229G> A (p.Ala77Thr)SNVPathogenic/ Likely pathogenicrs869025191GRCh38Chr 1, 155904739: 155904739
42RIT1NM_ 006912.5(RIT1): c.241G> C (p.Glu81Gln)SNVPathogenicrs869025192GRCh38Chr 1, 155904499: 155904499
43RIT1NM_ 006912.5(RIT1): c.242A> G (p.Glu81Gly)SNVPathogenicrs869025193GRCh38Chr 1, 155904498: 155904498
44RIT1NM_ 006912.5(RIT1): c.244T> C (p.Phe82Leu)SNVPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
45RIT1NM_ 006912.5(RIT1): c.244T> G (p.Phe82Val)SNVPathogenicrs869025194GRCh38Chr 1, 155904496: 155904496
46RIT1NM_ 006912.5(RIT1): c.247A> C (p.Thr83Pro)SNVPathogenicrs869025195GRCh38Chr 1, 155904493: 155904493
47RIT1NM_ 006912.5(RIT1): c.251C> T (p.Ala84Val)SNVLikely pathogenicrs869025196GRCh38Chr 1, 155904489: 155904489
48RIT1NM_ 006912.5(RIT1): c.265T> C (p.Tyr89His)SNVPathogenicrs869025197GRCh38Chr 1, 155904475: 155904475
49RAF1NM_ 002880.3(RAF1): c.1472C> T (p.Thr491Ile)SNVPathogenic/ Likely pathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
50NRASNM_ 002524.4(NRAS): c.71T> A (p.Ile24Asn)SNVPathogenicrs869025573GRCh37Chr 1, 115258711: 115258711
51PTPN11NM_ 002834.4(PTPN11): c.181_ 183delGAT (p.Asp61del)deletionPathogenicrs869025574GRCh37Chr 12, 112888165: 112888167
52RAF1NM_ 002880.3(RAF1): c.775T> C (p.Ser259Pro)SNVLikely pathogenicrs3730271GRCh38Chr 3, 12604195: 12604195
53RIT1NM_ 006912.5(RIT1): c.229G> C (p.Ala77Pro)SNVPathogenic/ Likely pathogenicrs869025191GRCh38Chr 1, 155904739: 155904739
54BRAFNM_ 004333.4(BRAF): c.722C> T (p.Thr241Met)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
55BRAFNM_ 004333.4(BRAF): c.722C> G (p.Thr241Arg)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
56BRAFNM_ 004333.4(BRAF): c.1593G> C (p.Trp531Cys)SNVPathogenicrs606231228GRCh38Chr 7, 140777013: 140777013
57NRASNM_ 002524.4(NRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs397514553GRCh37Chr 1, 115258681: 115258681
58KRASNM_ 004985.4(KRAS): c.65A> G (p.Gln22Arg)SNVPathogenic/ Likely pathogenicrs727503110GRCh37Chr 12, 25398254: 25398254
59KRASNM_ 004985.4(KRAS): c.101C> T (p.Pro34Leu)SNVPathogenicrs104894366GRCh37Chr 12, 25398218: 25398218
60KRASNM_ 004985.4(KRAS): c.458A> G (p.Asp153Gly)SNVPathogenic/ Likely pathogenicrs104894360GRCh37Chr 12, 25362838: 25362838
61NRASNM_ 002524.4(NRAS): c.35G> T (p.Gly12Val)SNVPathogenic/ Likely pathogenicrs121913237GRCh37Chr 1, 115258747: 115258747
62PTPN11NM_ 002834.4(PTPN11): c.124A> G (p.Thr42Ala)SNVPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
63PTPN11NM_ 002834.4(PTPN11): c.155C> T (p.Thr52Ile)SNVLikely pathogenicrs397507503GRCh37Chr 12, 112888139: 112888139
64PTPN11NM_ 002834.4(PTPN11): c.172A> C (p.Asn58His)SNVPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
65PTPN11NM_ 002834.4(PTPN11): c.172A> G (p.Asn58Asp)SNVPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
66PTPN11NM_ 002834.4(PTPN11): c.174C> A (p.Asn58Lys)SNVPathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
67PTPN11NM_ 002834.4(PTPN11): c.174C> G (p.Asn58Lys)SNVPathogenic/ Likely pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
68PTPN11NM_ 002834.4(PTPN11): c.178G> A (p.Gly60Ser)SNVPathogenic/ Likely pathogenicrs397507507GRCh37Chr 12, 112888162: 112888162
69PTPN11NM_ 002834.4(PTPN11): c.179G> C (p.Gly60Ala)SNVPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
70PTPN11NM_ 002834.4(PTPN11): c.205G> C (p.Glu69Gln)SNVPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
71PTPN11NM_ 002834.4(PTPN11): c.211T> C (p.Phe71Leu)SNVPathogenic/ Likely pathogenicrs397507512GRCh37Chr 12, 112888195: 112888195
72PTPN11NM_ 002834.4(PTPN11): c.214G> C (p.Ala72Pro)SNVPathogenic/ Likely pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
73PTPN11NM_ 002834.4(PTPN11): c.228G> T (p.Glu76Asp)SNVPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
74PTPN11NM_ 002834.4(PTPN11): c.228G> C (p.Glu76Asp)SNVPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
75PTPN11NM_ 002834.4(PTPN11): c.317A> C (p.Asp106Ala)SNVPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
76PTPN11NM_ 002834.4(PTPN11): c.328G> A (p.Glu110Lys)SNVPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
77PTPN11NM_ 002834.4(PTPN11): c.417G> C (p.Glu139Asp)SNVPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
78PTPN11NM_ 002834.4(PTPN11): c.781C> T (p.Leu261Phe)SNVPathogenic/ Likely pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
79PTPN11NM_ 002834.4(PTPN11): c.802G> T (p.Gly268Cys)SNVPathogenic/ Likely pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
80PTPN11NM_ 002834.4(PTPN11): c.844A> G (p.Ile282Val)SNVPathogenicrs397507529GRCh37Chr 12, 112910835: 112910835
81PTPN11NM_ 002834.4(PTPN11): c.846C> G (p.Ile282Met)SNVPathogenic/ Likely pathogenicrs397507530GRCh37Chr 12, 112910837: 112910837
82PTPN11NM_ 002834.4(PTPN11): c.853T> C (p.Phe285Leu)SNVPathogenicrs397507531GRCh37Chr 12, 112910844: 112910844
83PTPN11NM_ 002834.4(PTPN11): c.854T> G (p.Phe285Cys)SNVPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
84PTPN11NM_ 002834.4(PTPN11): c.923A> C (p.Asn308Thr)SNVPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
85PTPN11NM_ 002834.4(PTPN11): c.1471C> A (p.Pro491Thr)SNVPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
86PTPN11NM_ 002834.4(PTPN11): c.1471C> T (p.Pro491Ser)SNVPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
87PTPN11NM_ 002834.4(PTPN11): c.1472C> A (p.Pro491His)SNVPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
88PTPN11NM_ 002834.4(PTPN11): c.1472C> T (p.Pro491Leu)SNVPathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
89PTPN11NM_ 002834.4(PTPN11): c.1502G> A (p.Arg501Lys)SNVPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
90PTPN11NM_ 002834.4(PTPN11): c.1505C> T (p.Ser502Leu)SNVPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
91PTPN11NM_ 002834.4(PTPN11): c.1507G> C (p.Gly503Arg)SNVPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
92PTPN11NM_ 002834.4(PTPN11): c.1507G> A (p.Gly503Arg)SNVPathogenicrs397507545GRCh37Chr 12, 112926887: 112926887
93PTPN11NM_ 002834.4(PTPN11): c.1510A> G (p.Met504Val)SNVPathogenicrs397507547GRCh37Chr 12, 112926890: 112926890
94RAF1NM_ 002880.3(RAF1): c.452T> C (p.Phe151Ser)SNVLikely pathogenicrs587782971GRCh37Chr 3, 12650394: 12650394
95RAF1NM_ 002880.3(RAF1): c.524A> G (p.His175Arg)SNVPathogenicrs397516822GRCh38Chr 3, 12608823: 12608823
96RAF1NM_ 002880.3(RAF1): c.768G> T (p.Arg256Ser)SNVPathogenic/ Likely pathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
97RAF1NM_ 002880.3(RAF1): c.769T> C (p.Ser257Pro)SNVPathogenic/ Likely pathogenicrs727505017GRCh37Chr 3, 12645700: 12645700
98RAF1NM_ 002880.3(RAF1): c.775T> A (p.Ser259Thr)SNVPathogenic/ Likely pathogenicrs3730271GRCh37Chr 3, 12645694: 12645694
99RAF1NM_ 002880.3(RAF1): c.776C> T (p.Ser259Phe)SNVPathogenic/ Likely pathogenicrs397516827GRCh37Chr 3, 12645693: 12645693
100RAF1NM_ 002880.3(RAF1): c.781C> A (p.Pro261Thr)SNVPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
101RAF1NM_ 002880.3(RAF1): c.781C> G (p.Pro261Ala)SNVPathogenic/ Likely pathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
102RAF1NM_ 002880.3(RAF1): c.782C> G (p.Pro261Arg)SNVPathogenicrs397516828GRCh37Chr 3, 12645687: 12645687
103RAF1NM_ 002880.3(RAF1): c.788T> G (p.Val263Gly)SNVPathogenic/ Likely pathogenicrs397516830GRCh37Chr 3, 12645681: 12645681
104RAF1NM_ 002880.3(RAF1): c.788T> C (p.Val263Ala)SNVLikely pathogenicrs397516830GRCh37Chr 3, 12645681: 12645681
105RAF1NM_ 002880.3(RAF1): c.1082G> C (p.Gly361Ala)SNVPathogenic/ Likely pathogenicrs397516813GRCh37Chr 3, 12641216: 12641216
106RAF1NM_ 002880.3(RAF1): c.1457A> G (p.Asp486Gly)SNVPathogenic/ Likely pathogenicrs397516815GRCh37Chr 3, 12627259: 12627259
107SOS1NM_ 005633.3(SOS1): c.322G> A (p.Glu108Lys)SNVPathogenic/ Likely pathogenicrs397517164GRCh37Chr 2, 39285837: 39285837
108SOS1NM_ 005633.3(SOS1): c.508A> G (p.Lys170Glu)SNVPathogenicrs397517172GRCh37Chr 2, 39283845: 39283845
109SOS1NM_ 005633.3(SOS1): c.806T> C (p.Met269Thr)SNVPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
110SOS1NM_ 005633.3(SOS1): c.1297G> A (p.Glu433Lys)SNVPathogenicrs397517147GRCh37Chr 2, 39250272: 39250272
111SOS1NM_ 005633.3(SOS1): c.1300G> A (p.Gly434Arg)SNVPathogenicrs397517148GRCh37Chr 2, 39250269: 39250269
112SOS1NM_ 005633.3(SOS1): c.1322G> A (p.Cys441Tyr)SNVPathogenicrs727504295GRCh37Chr 2, 39250247: 39250247
113SOS1NM_ 005633.3(SOS1): c.1642A> C (p.Ser548Arg)SNVPathogenicrs397517149GRCh37Chr 2, 39249927: 39249927
114SOS1NM_ 005633.3(SOS1): c.1649T> C (p.Leu550Pro)SNVPathogenicrs397517153GRCh37Chr 2, 39249920: 39249920
115SOS1NM_ 005633.3(SOS1): c.1655G> C (p.Arg552Thr)SNVPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
116SOS1NM_ 005633.3(SOS1): c.1655G> A (p.Arg552Lys)SNVPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
117SOS1NM_ 005633.3(SOS1): c.1656G> T (p.Arg552Ser)SNVPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
118SOS1NM_ 005633.3(SOS1): c.2104T> C (p.Tyr702His)SNVPathogenicrs727505381GRCh37Chr 2, 39240664: 39240664
119SOS1NM_ 005633.3(SOS1): c.2536G> A (p.Glu846Lys)SNVPathogenicrs397517159GRCh37Chr 2, 39234309: 39234309
120PTPN11NM_ 002834.4(PTPN11): c.209A> G (p.Lys70Arg)SNVPathogenic/ Likely pathogenicrs397516801GRCh37Chr 12, 112888193: 112888193
121PTPN11NM_ 002834.4(PTPN11): c.217_ 218delACinsCT (p.Thr73Leu)indelPathogenicrs397516802GRCh37Chr 12, 112888201: 112888202
122PTPN11NM_ 002834.4(PTPN11): c.235C> A (p.Gln79Lys)SNVLikely pathogenicrs397516803GRCh37Chr 12, 112888219: 112888219
123PTPN11NM_ 002834.4(PTPN11): c.774G> T (p.Glu258Asp)SNVPathogenic/ Likely pathogenicrs397516809GRCh37Chr 12, 112910765: 112910765
124PTPN11NM_ 002834.4(PTPN11): c.802G> A (p.Gly268Ser)SNVLikely pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
125PTPN11NM_ 002834.4(PTPN11): c.855T> G (p.Phe285Leu)SNVPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
126RAF1NM_ 002880.3(RAF1): c.766A> G (p.Arg256Gly)SNVLikely pathogenicrs397516825GRCh37Chr 3, 12645703: 12645703
127RAF1NM_ 002880.3(RAF1): c.768G> C (p.Arg256Ser)SNVLikely pathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
128RAF1NM_ 002880.3(RAF1): c.786T> A (p.Asn262Lys)SNVPathogenicrs397516829GRCh37Chr 3, 12645683: 12645683
129BRAFNM_ 004333.4(BRAF): c.1409C> G (p.Thr470Arg)SNVLikely pathogenicrs397516891GRCh37Chr 7, 140481399: 140481399
130BRAFNM_ 004333.4(BRAF): c.722C> A (p.Thr241Lys)SNVPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
131BRAFNM_ 004333.4(BRAF): c.793G> C (p.Gly265Arg)SNVLikely pathogenicrs397516905GRCh37Chr 7, 140501279: 140501279
132KRASNM_ 033360.3(KRAS): c.182A> G (p.Gln61Arg)SNVPathogenicrs121913240GRCh37Chr 12, 25380276: 25380276
133KRASNM_ 004985.4(KRAS): c.454G> T (p.Val152Phe)SNVLikely pathogenicrs397517041GRCh37Chr 12, 25362842: 25362842
134KRASNM_ 004985.4(KRAS): c.466T> G (p.Phe156Val)SNVPathogenic/ Likely pathogenicrs397517042GRCh37Chr 12, 25362830: 25362830
135SOS1NM_ 005633.3(SOS1): c.1132A> G (p.Thr378Ala)SNVLikely pathogenicrs397517146GRCh37Chr 2, 39251221: 39251221
136SOS1NM_ 005633.3(SOS1): c.1310T> C (p.Ile437Thr)SNVPathogenicrs397517150GRCh37Chr 2, 39250259: 39250259
137SOS1NM_ 005633.3(SOS1): c.1412G> C (p.Cys471Ser)SNVLikely pathogenicrs397517151GRCh37Chr 2, 39250157: 39250157
138SOS1NM_ 005633.3(SOS1): c.3022T> C (p.Tyr1008His)SNVLikely pathogenicrs397517163GRCh37Chr 2, 39224122: 39224122
139SOS1NM_ 005633.3(SOS1): c.335C> G (p.Pro112Arg)SNVLikely pathogenicrs397517166GRCh37Chr 2, 39285824: 39285824
140SOS1NM_ 005633.3(SOS1): c.512T> C (p.Val171Ala)SNVLikely pathogenicrs397517174GRCh37Chr 2, 39281963: 39281963
141SOS1NM_ 005633.3(SOS1): c.925G> T (p.Asp309Tyr)SNVPathogenicrs397517180GRCh37Chr 2, 39262581: 39262581
142PTPN11NM_ 002834.4(PTPN11): c.179G> T (p.Gly60Val)SNVPathogenic/ Likely pathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
143RIT1NM_ 006912.5(RIT1): c.170C> G (p.Ala57Gly)SNVPathogenicrs672601334GRCh37Chr 1, 155874589: 155874589
144RIT1NM_ 006912.5(RIT1): c.284G> C (p.Gly95Ala)SNVPathogenicrs672601335GRCh37Chr 1, 155874247: 155874247
145SHOC2NM_ 007373.3(SHOC2): c.4A> G (p.Ser2Gly)SNVPathogenic/ Likely pathogenicrs267607048GRCh37Chr 10, 112724120: 112724120

Expression for genes affiliated with Noonan Syndrome 1

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

Pathways for genes affiliated with Noonan Syndrome 1

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Pathways related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

(show top 50)    (show all 197)
idSuper pathwaysScoreTop Affiliating Genes
110.2HRAS, RAF1
210.2MAP2K2, RAF1
310.1HRAS, PTPN11, SOS1
410.1HRAS, PTPN11, SOS1
5
Show member pathways
10.1HRAS, PTPN11, SOS1
610.1HRAS, PTPN11, SOS1
710.1MAP2K1, RAF1, SOS1
810.1HRAS, KRAS, NRAS
910.1HRAS, KRAS, NRAS
1010.1HRAS, KRAS, NRAS
1110.1HRAS, KRAS, NRAS
1210.1HRAS, KRAS, NRAS
13
Show member pathways
10.1HRAS, KRAS, NRAS
1410.1BRAF, MAP2K1, RAF1
15
Show member pathways
10.1MAP2K1, MAP2K2, PTPN11
1610.1HRAS, MAP2K2, RAF1
1710.1BRAF, MAP2K1, MAP2K2
1810.1MAP2K1, MAP2K2, RAF1
1910.1MAP2K1, MAP2K2, RAF1
2010.1MAP2K1, MAP2K2, RAF1
2110.1MAP2K1, MAP2K2, RAF1
22
Show member pathways
10.1MAP2K1, MAP2K2, RAF1
2310.0HRAS, PTPN11, RAF1, SOS1
24
Show member pathways
10.0HRAS, KRAS, NRAS, SOS1
25
Show member pathways
10.0HRAS, KRAS, NRAS, SOS1
26
Show member pathways
10.0HRAS, KRAS, NRAS, SOS1
27
Show member pathways
10.0HRAS, KRAS, NRAS, SOS1
28
Show member pathways
10.0HRAS, KRAS, NRAS, SOS1
29
Show member pathways
10.0MAP2K1, PTPN11, RIT1, SOS1
3010.0BRAF, MAP2K1, RAF1, SOS1
31
Show member pathways
10.0HRAS, KRAS, NRAS, RAF1
3210.0HRAS, KRAS, NRAS, RAF1
3310.0HRAS, KRAS, NRAS, RAF1
3410.0HRAS, KRAS, NRAS, RAF1
3510.0HRAS, RAF1, SOS1, SOS2
3610.0HRAS, RAF1, SOS1, SOS2
37
Show member pathways
10.0HRAS, RAF1, SOS1, SOS2
38
Show member pathways
10.0BRAF, MAP2K1, RAF1, RIT1
3910.0HRAS, KRAS, NRAS, RASA2
40
Show member pathways
10.0MAP2K1, MAP2K2, PTPN11, SOS1
41
Show member pathways
10.0MAP2K1, MAP2K2, RAF1, SOS1
4210.0BRAF, HRAS, MAP2K1, RAF1
43
Show member pathways
9.9BRAF, MAP2K1, MAP2K2, RAF1
44
Show member pathways
9.9BRAF, MAP2K1, MAP2K2, RAF1
45
Show member pathways
9.9BRAF, MAP2K1, MAP2K2, RAF1
46
Show member pathways
9.9BRAF, MAP2K1, MAP2K2, RAF1
47
Show member pathways
9.9HRAS, IGF1, KRAS, NRAS
489.9BRAF, KRAS, RAF1, SOS1, SOS2
49
Show member pathways
9.9HRAS, MAP2K1, MAP2K2, RAF1
509.9HRAS, MAP2K1, MAP2K2, RAF1

GO Terms for genes affiliated with Noonan Syndrome 1

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Cellular components related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:001694210.2IGF1, IGFBP3
2insulin-like growth factor ternary complexGO:004256710.1IGF1, IGFBP3
3cytosolGO:00058298.9BRAF, GHR, HRAS, KRAS, MAP2K1, MAP2K2

Biological processes related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

(show all 40)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of small GTPase mediated signal transductionGO:005105711.0SOS1, SOS2
2Bergmann glial cell differentiationGO:006002011.0MAP2K1, PTPN11
3cerebellar cortex formationGO:002169711.0MAP2K1, PTPN11
4forebrain astrocyte developmentGO:002189711.0KRAS, NF1
5response to isolation stressGO:003590011.0HRAS, KRAS
6regulation of axon regenerationGO:004867911.0BRAF, MAP2K1
7regulation of synaptic transmission, GABAergicGO:003222811.0KRAS, NF1
8positive regulation of production of miRNAs involved in gene silencing by miRNAGO:190380010.9MAP2K1, MAP2K2
9proteolysis in other organismGO:003589710.9MAP2K1, MAP2K2
10regulation of early endosome to late endosome transportGO:200064110.9MAP2K1, MAP2K2
11regulation of Golgi inheritanceGO:009017010.9MAP2K1, MAP2K2
12neurotrophin TRK receptor signaling pathwayGO:004801110.9PTPN11, RAF1, SOS1
13regulation of stress-activated MAPK cascadeGO:003287210.9MAP2K1, MAP2K2
14insulin-like growth factor receptor signaling pathwayGO:004800910.9GHR, IGF1
15positive regulation of insulin-like growth factor receptor signaling pathwayGO:004356810.9IGF1, IGFBP3
16regulation of Rho protein signal transductionGO:003502310.9RAF1, SOS1, SOS2
17face developmentGO:006032410.9BRAF, MAP2K1, RAF1
18negative regulation of signal transductionGO:000996810.8BRAF, IGFBP3, RAF1
19regulation of long-term neuronal synaptic plasticityGO:004816910.8HRAS, KRAS, NF1
20ERBB2 signaling pathwayGO:003812810.8HRAS, KRAS, NRAS, SOS1
21ERK1 and ERK2 cascadeGO:007037110.8IGF1, MAP2K1, MAP2K2
22regulation of multicellular organism growthGO:004001410.8GHR, IGF1, PTPN11
23Fc-epsilon receptor signaling pathwayGO:003809510.8HRAS, KRAS, NRAS, SOS1
24positive regulation of MAPK cascadeGO:004341010.8HRAS, IGF1, IGFBP3
25positive regulation of Ras protein signal transductionGO:004657910.7HRAS, IGF1, SHOC2
26heart developmentGO:000750710.7MAP2K1, NF1, PTPN11, RAF1
27axon guidanceGO:000741110.7HRAS, KRAS, NRAS, PTPN11, SOS1
28epidermal growth factor receptor signaling pathwayGO:000717310.7HRAS, KRAS, NRAS, PTPN11, SOS1
29leukocyte migrationGO:005090010.7HRAS, KRAS, NRAS, PTPN11, SOS1
30thymus developmentGO:004853810.6BRAF, MAP2K1, RAF1
31thyroid gland developmentGO:003087810.5BRAF, MAP2K1, RAF1
32stimulatory C-type lectin receptor signaling pathwayGO:000222310.5HRAS, KRAS, NRAS, RAF1
33activation of MAPK activityGO:000018710.5GHR, IGF1, MAP2K1, MAP2K2, PTPN11
34negative regulation of cell proliferationGO:000828510.5HRAS, IGFBP3, MAP2K1, NF1, RAF1
35positive regulation of ERK1 and ERK2 cascadeGO:007037410.5BRAF, HRAS, MAP2K1, MAP2K2, PTPN11, RAF1
36small GTPase mediated signal transductionGO:000726410.4HRAS, KRAS, NRAS, RIT1, SOS1, SOS2
37Ras protein signal transductionGO:000726510.1HRAS, IGF1, KRAS, NF1, NRAS, RIT1
38visual learningGO:000854210.1BRAF, KRAS, NF1
39MAPK cascadeGO:000016510.0BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NF1
40signal transductionGO:00071659.7BRAF, HRAS, IGF1, KRAS, MAP2K1, NF1

Molecular functions related to Noonan Syndrome 1 according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase activityGO:000470810.8MAP2K1, MAP2K2
2nucleotide bindingGO:00001669.6BRAF, HRAS, KRAS, MAP2K1, MAP2K2, NRAS

Sources for Noonan Syndrome 1

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet