NS1
MCID: NNN008
MIFTS: 68

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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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

MalaCards based summary: Noonan Syndrome 1, also known as noonan syndrome, is related to neurofibromatosis and juvenile myelomonocytic leukemia, and has symptoms including high forehead, triangular face and hypertelorism. An important gene associated with Noonan Syndrome 1 is PTPN11 (protein tyrosine phosphatase, non-receptor type 11), and among its related pathways are Sorafenib Pharmacodynamics and Post NMDA receptor activation events. The compounds gdc 0879 and l-779,450 have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and testes, and related mouse phenotypes are pigmentation and tumorigenesis.

Descriptions from OMIM:46 163950, 605275, 609942, 610733, 611553 613224, 613706, 615355 more

Aliases & Classifications for Noonan Syndrome 1

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Sources:
48Orphanet, 62UMLS, 42NIH Rare Diseases, 22GTR, 46OMIM, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Related Diseases for Noonan Syndrome 1

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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 205)
idRelated DiseaseScoreTop Affiliating Genes
1neurofibromatosis31.4PTPN11, RASA2, KRAS
2juvenile myelomonocytic leukemia31.2PTPN11, NRAS, KRAS
3noonan syndrome31.1BRAF, MAP2K1, NRAS, RAF1, KRAS, SOS1
4leopard syndrome30.6PTPN11, SHOC2, SOS1, RAF1
5short stature30.5MAP2K1, BRAF, SOS1, PTPN11
6dengue disease30.4KRAS, RAF1
7cardiofaciocutaneous syndrome30.3MAP2K1, SOS1, PTPN11, BRAF, KRAS
8myeloid leukemia30.3RAF1, PTPN11, CBL, MAP2K1
9congenital heart disease30.0RAF1, MAP2K1, BRAF, SOS1, PTPN11
10hepatitis c30.0PTPN11, SOS1, RAF1, KRAS
11costello syndrome30.0SHOC2, BRAF, SOS1, PTPN11, KRAS, MAP2K1
12hepatitis29.9RAF1, SOS1, KRAS
13leukemia29.8KRAS, RASA2, RAF1, NRAS, MAP2K1, CBL
14influenza11.0
15neurofibromatosis-noonan syndrome10.7
16encephalitis10.6
17hypertrophic cardiomyopathy10.6
18leopard syndrome 110.5PTPN11
19noonan syndrome 310.5
20avian influenza10.5
21japanese encephalitis10.5
22noonan syndrome 210.5
23noonan syndrome 410.5
24noonan syndrome 510.5
25noonan syndrome 610.5
26saldino-noonan syndrome10.4
27noonan-like syndrome disorder with or without juvenile myelomonocytic leukemia10.4
28west nile virus10.4
29bone marrow cancer10.4NRAS, KRAS
30yellow fever10.3RAF1, KRAS
31tick-borne encephalitis10.3
32acute lymphoblastic leukemia10.3
33systemic lupus erythematosus10.3
34lupus erythematosus10.3
35lymphoblastic leukemia10.3
36rhabdomyosarcoma10.3
37noonan-like/multiple giant cell lesion syndrome10.3
38exanthem10.3KRAS, NRAS
39pulmonary valve stenosis10.3PTPN11, SOS1
40murray valley encephalitis10.3
41cherubism10.3
42retinitis10.3
43noonan syndrome 710.3
44louping ill10.3
45vaccinia10.3
46cystadenoma10.2KRAS, BRAF
47gallbladder cancer10.2KRAS, NRAS
48myelodysplastic syndromes10.2PTPN11, KRAS, NRAS
49craniosynostosis10.2
50lymphedema10.2

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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Symptoms by clinical synopsis from OMIM:

163950

Clinical features from OMIM:

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

Symptoms:

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

HPO human phenotypes related to Noonan Syndrome 1:

(show all 93)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 thick lower lip vermilion hallmark (90%) HP:0000179
3 malar flattening hallmark (90%) HP:0000272
4 hypertelorism hallmark (90%) HP:0000316
5 triangular face hallmark (90%) HP:0000325
6 micrognathia hallmark (90%) HP:0000347
7 high forehead hallmark (90%) HP:0000348
8 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
9 webbed neck hallmark (90%) HP:0000465
10 thickened nuchal skin fold hallmark (90%) HP:0000474
11 cystic hygroma hallmark (90%) HP:0000476
12 downslanted palpebral fissures hallmark (90%) HP:0000494
13 ptosis hallmark (90%) HP:0000508
14 proptosis hallmark (90%) HP:0000520
15 pectus excavatum hallmark (90%) HP:0000767
16 pectus carinatum hallmark (90%) HP:0000768
17 muscle weakness hallmark (90%) HP:0001324
18 joint hypermobility hallmark (90%) HP:0001382
19 abnormality of the pulmonary valve hallmark (90%) HP:0001641
20 neurological speech impairment hallmark (90%) HP:0002167
21 short stature hallmark (90%) HP:0004322
22 abnormality of the nipple hallmark (90%) HP:0004404
23 abnormality of the pulmonary artery hallmark (90%) HP:0004414
24 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
25 abnormality of the helix hallmark (90%) HP:0011039
26 enlarged thorax hallmark (90%) HP:0100625
27 cryptorchidism typical (50%) HP:0000028
28 strabismus typical (50%) HP:0000486
29 muscular hypotonia typical (50%) HP:0001252
30 abnormality of the spleen typical (50%) HP:0001743
31 abnormality of thrombocytes typical (50%) HP:0001872
32 abnormality of coagulation typical (50%) HP:0001928
33 low posterior hairline typical (50%) HP:0002162
34 coarse hair typical (50%) HP:0002208
35 hepatomegaly typical (50%) HP:0002240
36 scoliosis typical (50%) HP:0002650
37 delayed skeletal maturation typical (50%) HP:0002750
38 abnormal dermatoglyphics typical (50%) HP:0007477
39 feeding difficulties in infancy typical (50%) HP:0008872
40 arrhythmia typical (50%) HP:0011675
41 intellectual disability 25% HP:0001249
42 hypogonadism occasional (7.5%) HP:0000135
43 sensorineural hearing impairment occasional (7.5%) HP:0000407
44 nystagmus occasional (7.5%) HP:0000639
45 melanocytic nevus occasional (7.5%) HP:0000995
46 lymphedema occasional (7.5%) HP:0001004
47 brachydactyly syndrome occasional (7.5%) HP:0001156
48 radioulnar synostosis occasional (7.5%) HP:0002974
49 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
50 abnormal hair quantity occasional (7.5%) HP:0011362
51 autosomal dominant inheritance HP:0000006
52 cryptorchidism HP:0000028
53 high palate HP:0000218
54 epicanthus HP:0000286
55 hypertelorism HP:0000316
56 triangular face HP:0000325
57 micrognathia HP:0000347
58 low-set, posteriorly rotated ears HP:0000368
59 sensorineural hearing impairment HP:0000407
60 webbed neck HP:0000465
61 short neck HP:0000470
62 cystic hygroma HP:0000476
63 downslanted palpebral fissures HP:0000494
64 ptosis HP:0000508
65 myopia HP:0000545
66 dental malocclusion HP:0000689
67 shield chest HP:0000914
68 pectus excavatum of inferior sternum HP:0000915
69 superior pectus carinatum HP:0000917
70 lymphedema HP:0001004
71 brachydactyly syndrome HP:0001156
72 heterogeneous HP:0001425
73 failure to thrive in infancy HP:0001531
74 ventricular septal defect HP:0001629
75 defect in the atrial septum HP:0001631
76 hypertrophic cardiomyopathy HP:0001639
77 pulmonic stenosis HP:0001642
78 patent ductus arteriosus HP:0001643
79 coarctation of aorta HP:0001680
80 abnormal bleeding HP:0001892
81 low posterior hairline HP:0002162
82 kyphoscoliosis HP:0002751
83 cubitus valgus HP:0002967
84 male infertility HP:0003251
85 short stature HP:0004322
86 reduced factor xii activity HP:0004841
87 amegakaryocytic thrombocytopenia HP:0004859
88 reduced factor xiii activity HP:0008357
89 postnatal growth retardation HP:0008897
90 radial deviation of finger HP:0009466
91 clinodactyly HP:0030084
92 neurofibrosarcoma HP:0100697
93 synovitis HP:0100769

Drugs & Therapeutics for Noonan Syndrome 1

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Drug clinical trials:

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Genetic Tests for Noonan Syndrome 1

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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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MalaCards organs/tissues related to Noonan Syndrome 1:

32
Heart, Skin, Testes, Eye, Bone, Spleen, Liver

Animal Models for Noonan Syndrome 1 or affiliated genes

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MGI Mouse Phenotypes related to Noonan Syndrome 1:

36 (show all 22)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2PTPN11, KRAS, CBL, BRAF
2MP:00020068.8MAP2K1, BRAF, PTPN11, RAF1, NRAS, KRAS
3MP:00053708.7NRAS, KRAS, RAF1, CBL, BRAF, PTPN11
4MP:00053778.7PTPN11, MAP2K1, KAT6B, CBL
5MP:00053818.6SOS1, PTPN11, MAP2K1, NRAS, KRAS, BRAF
6MP:00053718.5KRAS, NRAS, CBL, KAT6B, PTPN11
7MP:00053888.5SHOC2, BRAF, CBL, RAF1, KRAS, PTPN11
8MP:00028738.3MAP2K1, SHOC2, KRAS, RAF1, NRAS, BRAF
9MP:00053978.1NRAS, KRAS, RAF1, CBL, BRAF, PTPN11
10MP:00053878.0NRAS, RAF1, BRAF, KRAS, CBL, SOS1
11MP:00053807.9BRAF, RAF1, PTPN11, NRAS, KRAS, MAP2K1
12MP:00053697.9KAT6B, PTPN11, SOS1, BRAF, CBL, RAF1
13MP:00053827.8RAF1, MAP2K1, BRAF, SOS1, KAT6B, PTPN11
14MP:00053907.8RAF1, KAT6B, PTPN11, BRAF, MAP2K1, SOS1
15MP:00053917.6RAF1, KAT6B, PTPN11, SOS1, BRAF, KRAS
16MP:00107717.6CBL, PTPN11, SHOC2, BRAF, MAP2K1, NRAS
17MP:00053857.5CBL, BRAF, MAP2K1, NRAS, RAF1, KRAS
18MP:00053767.5CBL, MAP2K1, NRAS, RAF1, KRAS, BRAF
19MP:00036317.3BRAF, SOS1, PTPN11, KAT6B, RAF1, MAP2K1
20MP:00053847.0RAF1, KRAS, KAT6B, NRAS, MAP2K1, CBL
21MP:00053786.7RAF1, KAT6B, SHOC2, PTPN11, SOS1, BRAF
22MP:00107686.7KRAS, NRAS, RAF1, MAP2K1, CBL, BRAF

Publications for Noonan Syndrome 1

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Variations for Noonan Syndrome 1

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

64 (show all 32)
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
32PTPN11p.Pro495SerVAR_071706

Clinvar genetic disease variations for Noonan Syndrome 1:

6 (show all 87)
id Gene Name Type Significance SNP ID Assembly Location
1KRASNM_033360.3(KRAS): c.173C> T (p.Thr58Ile)single nucleotide variantPathogenicrs104894364GRCh37Chr 12, 25380285: 25380285
2KRASNM_004985.4(KRAS): c.455T> G (p.Val152Gly)single nucleotide variantPathogenicrs104894367GRCh37Chr 12, 25362841: 25362841
3KRASNM_033360.3(KRAS): c.13A> G (p.Lys5Glu)single nucleotide variantPathogenicrs193929331GRCh37Chr 12, 25398306: 25398306
4KRASNM_033360.3(KRAS): c.178G> A (p.Gly60Ser)single nucleotide variantPathogenicrs104894359GRCh37Chr 12, 25380280: 25380280
5SOS1NM_005633.3(SOS1): c.797C> A (p.Thr266Lys)single nucleotide variantPathogenicrs137852812GRCh37Chr 2, 39278352: 39278352
6SOS1NM_005633.3(SOS1): c.806T> G (p.Met269Arg)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
7SOS1NM_005633.3(SOS1): c.1654A> G (p.Arg552Gly)single nucleotide variantPathogenicrs137852814GRCh37Chr 2, 39249915: 39249915
8SOS1NM_005633.3(SOS1): c.1656G> C (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
9SOS1NM_005633.3(SOS1): c.1294T> C (p.Trp432Arg)single nucleotide variantPathogenicrs267607080GRCh37Chr 2, 39250275: 39250275
10PTPN11NM_002834.3(PTPN11): c.214G> T (p.Ala72Ser)single nucleotide variantPathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
11PTPN11NM_002834.3(PTPN11): c.215C> G (p.Ala72Gly)single nucleotide variantPathogenicrs121918454GRCh37Chr 12, 112888199: 112888199
12PTPN11NM_002834.3(PTPN11): c.922A> G (p.Asn308Asp)single nucleotide variantPathogenicrs28933386GRCh37Chr 12, 112915523: 112915523
13PTPN11NM_002834.3(PTPN11): c.923A> G (p.Asn308Ser)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
14PTPN11NM_002834.3(PTPN11): c.836A> G (p.Tyr279Cys)single nucleotide variantPathogenicrs121918456GRCh37Chr 12, 112910827: 112910827
15PTPN11NM_002834.3(PTPN11): c.184T> G (p.Tyr62Asp)single nucleotide variantPathogenicrs121918460GRCh37Chr 12, 112888168: 112888168
16PTPN11NM_002834.3(PTPN11): c.182A> G (p.Asp61Gly)single nucleotide variantPathogenicrs121918461GRCh37Chr 12, 112888166: 112888166
17PTPN11NM_002834.3(PTPN11): c.1403C> T (p.Thr468Met)single nucleotide variantPathogenicrs121918457GRCh37Chr 12, 112926270: 112926270
18PTPN11NM_002834.3(PTPN11): c.1504T> A (p.Ser502Thr)single nucleotide variantPathogenicrs121918458GRCh37Chr 12, 112926884: 112926884
19PTPN11NM_002834.3(PTPN11): c.188A> G (p.Tyr63Cys)single nucleotide variantPathogenicrs121918459GRCh37Chr 12, 112888172: 112888172
20PTPN11NM_002834.3(PTPN11): c.218C> T (p.Thr73Ile)single nucleotide variantPathogenicrs121918462GRCh37Chr 12, 112888202: 112888202
21PTPN11NM_002834.3(PTPN11): c.854T> C (p.Phe285Ser)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
22PTPN11NM_002834.3(PTPN11): c.236A> G (p.Gln79Arg)single nucleotide variantPathogenicrs121918466GRCh37Chr 12, 112888220: 112888220
23PTPN11NM_002834.3(PTPN11): c.1232C> T (p.Thr411Met)single nucleotide variantPathogenicrs121918467GRCh37Chr 12, 112924286: 112924286
24PTPN11NM_002834.3(PTPN11): c.1381G> A (p.Ala461Thr)single nucleotide variantPathogenicrs121918468GRCh37Chr 12, 112926248: 112926248
25PTPN11NM_002834.3(PTPN11): c.1529A> G (p.Gln510Arg)single nucleotide variantPathogenicrs121918470GRCh37Chr 12, 112926909: 112926909
26PTPN11NM_002834.3(PTPN11): c.179_181delGTG (p.Gly60del)deletionPathogenicrs80338836GRCh37Chr 12, 112888163: 112888165
27PTPN11NM_002834.3(PTPN11): c.5C> T (p.Thr2Ile)single nucleotide variantPathogenicrs267606990GRCh37Chr 12, 112856920: 112856920
28NRASNM_002524.4(NRAS): c.149C> T (p.Thr50Ile)single nucleotide variantPathogenicrs267606921GRCh37Chr 1, 115256562: 115256562
29NRASNM_002524.4(NRAS): c.179G> A (p.Gly60Glu)single nucleotide variantPathogenicrs267606920GRCh37Chr 1, 115256532: 115256532
30RAF1NM_002880.3(RAF1): c.781C> T (p.Pro261Ser)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
31RAF1NM_002880.3(RAF1): c.1472C> G (p.Thr491Arg)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
32RAF1NM_002880.3(RAF1): c.1837C> G (p.Leu613Val)single nucleotide variantPathogenicrs80338797GRCh37Chr 3, 12626123: 12626123
33RAF1NM_002880.3(RAF1): c.1472C> T (p.Thr491Ile)single nucleotide variantPathogenicrs80338799GRCh37Chr 3, 12627244: 12627244
34BRAFNM_004333.4(BRAF): c.722C> T (p.Thr241Met)single nucleotide variantPathogenicrs387906660GRCh37Chr 7, 140501350: 140501350
35BRAFBRAF, TRP531CYSsingle nucleotide variantPathogenic
36NRASNM_002524.4(NRAS): c.35G> T (p.Gly12Val)single nucleotide variantPathogenicrs121913237GRCh37Chr 1, 115258747: 115258747
37PTPN11NM_002834.3(PTPN11): c.124A> G (p.Thr42Ala)single nucleotide variantPathogenicrs397507501GRCh37Chr 12, 112884189: 112884189
38PTPN11NM_002834.3(PTPN11): c.172A> C (p.Asn58His)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
39PTPN11NM_002834.3(PTPN11): c.172A> G (p.Asn58Asp)single nucleotide variantPathogenicrs397507505GRCh37Chr 12, 112888156: 112888156
40PTPN11NM_002834.3(PTPN11): c.174C> A (p.Asn58Lys)single nucleotide variantLikely pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
41PTPN11NM_002834.3(PTPN11): c.174C> G (p.Asn58Lys)single nucleotide variantLikely pathogenicrs397507506GRCh37Chr 12, 112888158: 112888158
42PTPN11NM_002834.3(PTPN11): c.179G> C (p.Gly60Ala)single nucleotide variantPathogenicrs397507509GRCh37Chr 12, 112888163: 112888163
43PTPN11NM_002834.3(PTPN11): c.205G> C (p.Glu69Gln)single nucleotide variantPathogenicrs397507511GRCh37Chr 12, 112888189: 112888189
44PTPN11NM_002834.3(PTPN11): c.214G> C (p.Ala72Pro)single nucleotide variantLikely pathogenicrs121918453GRCh37Chr 12, 112888198: 112888198
45PTPN11NM_002834.3(PTPN11): c.228G> T (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
46PTPN11NM_002834.3(PTPN11): c.228G> C (p.Glu76Asp)single nucleotide variantPathogenicrs397507514GRCh37Chr 12, 112888212: 112888212
47PTPN11NM_002834.3(PTPN11): c.317A> C (p.Asp106Ala)single nucleotide variantPathogenicrs397507517GRCh37Chr 12, 112888301: 112888301
48PTPN11NM_002834.3(PTPN11): c.328G> A (p.Glu110Lys)single nucleotide variantPathogenicrs397507518GRCh37Chr 12, 112888312: 112888312
49PTPN11NM_002834.3(PTPN11): c.417G> T (p.Glu139Asp)single nucleotide variantPathogenicrs397507520GRCh37Chr 12, 112891083: 112891083
50PTPN11NM_002834.3(PTPN11): c.781C> T (p.Leu261Phe)single nucleotide variantLikely pathogenicrs397507525GRCh37Chr 12, 112910772: 112910772
51PTPN11NM_002834.3(PTPN11): c.785T> G (p.Leu262Arg)single nucleotide variantPathogenicrs397507526GRCh37Chr 12, 112910776: 112910776
52PTPN11NM_002834.3(PTPN11): c.794G> A (p.Arg265Gln)single nucleotide variantLikely pathogenicrs376607329GRCh37Chr 12, 112910785: 112910785
53PTPN11NM_002834.3(PTPN11): c.802G> T (p.Gly268Cys)single nucleotide variantLikely pathogenicrs397507527GRCh37Chr 12, 112910793: 112910793
54PTPN11NM_002834.3(PTPN11): c.846C> G (p.Ile282Met)single nucleotide variantLikely pathogenicrs397507530GRCh37Chr 12, 112910837: 112910837
55PTPN11NM_002834.3(PTPN11): c.854T> G (p.Phe285Cys)single nucleotide variantPathogenicrs121918463GRCh37Chr 12, 112915455: 112915455
56PTPN11NM_002834.3(PTPN11): c.923A> C (p.Asn308Thr)single nucleotide variantPathogenicrs121918455GRCh37Chr 12, 112915524: 112915524
57PTPN11NM_002834.3(PTPN11): c.1471C> A (p.Pro491Thr)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
58PTPN11NM_002834.3(PTPN11): c.1471C> T (p.Pro491Ser)single nucleotide variantPathogenicrs397507539GRCh37Chr 12, 112926851: 112926851
59PTPN11NM_002834.3(PTPN11): c.1472C> A (p.Pro491His)single nucleotide variantLikely pathogenicrs397507540GRCh37Chr 12, 112926852: 112926852
60PTPN11NM_002834.3(PTPN11): c.1502G> A (p.Arg501Lys)single nucleotide variantPathogenicrs397507543GRCh37Chr 12, 112926882: 112926882
61PTPN11NM_002834.3(PTPN11): c.1505C> T (p.Ser502Leu)single nucleotide variantPathogenicrs397507544GRCh37Chr 12, 112926885: 112926885
62RAF1NM_002880.3(RAF1): c.768G> T (p.Arg256Ser)single nucleotide variantPathogenicrs397516826GRCh37Chr 3, 12645701: 12645701
63RAF1NM_002880.3(RAF1): c.781C> A (p.Pro261Thr)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
64RAF1NM_002880.3(RAF1): c.781C> G (p.Pro261Ala)single nucleotide variantPathogenicrs121434594GRCh37Chr 3, 12645688: 12645688
65RAF1NM_002880.3(RAF1): c.1457A> G (p.Asp486Gly)single nucleotide variantPathogenicrs397516815GRCh37Chr 3, 12627259: 12627259
66SOS1NM_005633.3(SOS1): c.508A> G (p.Lys170Glu)single nucleotide variantPathogenicrs397517172GRCh37Chr 2, 39283845: 39283845
67SOS1NM_005633.3(SOS1): c.806T> C (p.Met269Thr)single nucleotide variantPathogenicrs137852813GRCh37Chr 2, 39278343: 39278343
68SOS1NM_005633.3(SOS1): c.1297G> A (p.Glu433Lys)single nucleotide variantPathogenicrs397517147GRCh37Chr 2, 39250272: 39250272
69SOS1NM_005633.3(SOS1): c.1300G> A (p.Gly434Arg)single nucleotide variantPathogenicrs397517148GRCh37Chr 2, 39250269: 39250269
70SOS1NM_005633.3(SOS1): c.1642A> C (p.Ser548Arg)single nucleotide variantPathogenicrs397517149GRCh37Chr 2, 39249927: 39249927
71SOS1NM_005633.3(SOS1): c.1649T> C (p.Leu550Pro)single nucleotide variantPathogenicrs397517153GRCh37Chr 2, 39249920: 39249920
72SOS1NM_005633.3(SOS1): c.1655G> C (p.Arg552Thr)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
73SOS1NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys)single nucleotide variantPathogenicrs397517154GRCh37Chr 2, 39249914: 39249914
74SOS1NM_005633.3(SOS1): c.1656G> T (p.Arg552Ser)single nucleotide variantPathogenicrs267607079GRCh37Chr 2, 39249913: 39249913
75SOS1NM_005633.3(SOS1): c.2183A> T (p.Lys728Ile)single nucleotide variantPathogenicrs397517156GRCh37Chr 2, 39239474: 39239474
76SOS1NM_005633.3(SOS1): c.2536G> A (p.Glu846Lys)single nucleotide variantPathogenicrs397517159GRCh37Chr 2, 39234309: 39234309
77MAP2K1NM_002755.3(MAP2K1): c.169A> C (p.Lys57Gln)single nucleotide variantPathogenicrs397516790GRCh37Chr 15, 66727453: 66727453
78PTPN11NM_002834.3(PTPN11): c.1226G> C (p.Gly409Ala)single nucleotide variantPathogenicrs201247699GRCh37Chr 12, 112924280: 112924280
79PTPN11NM_002834.3(PTPN11): c.855T> G (p.Phe285Leu)single nucleotide variantPathogenicrs397516810GRCh37Chr 12, 112915456: 112915456
80KRASNM_033360.3(KRAS): c.182A> G (p.Gln61Arg)single nucleotide variantPathogenicrs121913240GRCh37Chr 12, 25380276: 25380276
81CBLNM_005188.3(CBL): c.1096-1G> Csingle nucleotide variantPathogenicrs397517076GRCh37Chr 11, 119148875: 119148875
82SOS1NM_005633.3(SOS1): c.925G> T (p.Asp309Tyr)single nucleotide variantPathogenicrs397517180GRCh37Chr 2, 39262581: 39262581
83RIT1RIT1, ALA57GLYsingle nucleotide variantPathogenic
84RIT1RIT1, GLU81GLYsingle nucleotide variantPathogenic
85RIT1RIT1, PHE82LEUsingle nucleotide variantPathogenic
86RIT1RIT1, GLY95ALAsingle nucleotide variantPathogenic
87SHOC2NM_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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Expression patterns in normal tissues for genes affiliated with Noonan Syndrome 1

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Pathways for genes affiliated with Noonan Syndrome 1

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Pathways related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show top 50)    (show all 161)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8BRAF, MAP2K1, NRAS, RAF1, KRAS
2
Show member pathways
8.8KRAS, RAF1, NRAS, MAP2K1, BRAF
38.8NRAS, MAP2K1, KRAS, BRAF, RAF1
4
Show member pathways
8.8RAF1, MAP2K1, KRAS, SOS1, NRAS
5
Show member pathways
IL-2 Signaling pathway37
8.7RAF1, PTPN11, SOS1, CBL, MAP2K1
6
Show member pathways
EPO Receptor Signaling37
EPO signaling pathway37
8.7PTPN11, SOS1, CBL, MAP2K1, RAF1
7
Show member pathways
Development Flt3 signaling60
8.7SOS1, CBL, MAP2K1, RAF1, PTPN11
88.7PTPN11, CBL, MAP2K1, RAF1, SOS1
9
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
8.7MAP2K1, CBL, SOS1, PTPN11, RAF1
108.7RAF1, MAP2K1, BRAF, KRAS, SOS1
11
Show member pathways
8.6SOS1, BRAF, MAP2K1, NRAS, RAF1
128.6SOS1, MAP2K1, RAF1, BRAF, NRAS
13
Show member pathways
8.5KRAS, PTPN11, MAP2K1, SOS1, NRAS, RAF1
14
Show member pathways
8.5SOS1, KRAS, RAF1, MAP2K1, NRAS, PTPN11
158.5SOS1, PTPN11, KRAS, RAF1, MAP2K1, CBL
16
Show member pathways
G protein signaling M RAS regulation pathway60
8.4RASA2, RAF1, MAP2K1, BRAF, SOS1
17
Show member pathways
8.4BRAF, RAF1, KRAS, SOS1, PTPN11, MAP2K1
18
Show member pathways
8.4KRAS, NRAS, MAP2K1, SOS1, CBL, RAF1
19
Show member pathways
PLK2 and PLK4 events37
Polo-like kinase signaling events in the cell cycle37
8.4BRAF, KRAS, MAP2K1, NRAS, RAF1, SOS1
20
Show member pathways
8.4BRAF, MAP2K1, NRAS, KRAS, RAF1, SOS1
21
Show member pathways
8.4RAF1, KRAS, SOS1, NRAS, MAP2K1, BRAF
228.3PTPN11, SOS1, BRAF, MAP2K1, RAF1, CBL
23
Show member pathways
8.3BRAF, MAP2K1, SOS1, CBL, NRAS, RAF1
24
Show member pathways
Development ERBB family signaling60
Development GDNF family signaling60
8.3BRAF, MAP2K1, NRAS, RAF1, SOS1, CBL
25
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.1PTPN11, SOS1, CBL, MAP2K1, NRAS, RAF1
26
Show member pathways
Prolactin Signaling Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
8.1PTPN11, KRAS, RAF1, NRAS, SOS1, CBL
27
Show member pathways
8.1SOS1, PTPN11, CBL, NRAS, KRAS, MAP2K1
28
Show member pathways
8.1MAP2K1, KRAS, RAF1, NRAS, CBL, SOS1
29
Show member pathways
8.1RAF1, KRAS, CBL, MAP2K1, SOS1, PTPN11
308.1KRAS, PTPN11, SOS1, BRAF, MAP2K1, NRAS
31
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
8.1NRAS, MAP2K1, RAF1, KRAS, SOS1, PTPN11
32
Show member pathways
8.1NRAS, RAF1, KRAS, RIT1, MAP2K1, BRAF
33
Show member pathways
IL-9 Signaling Pathway37
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway37
Immune response IL 9 signaling pathway60
8.1KRAS, PTPN11, BRAF, RAF1, MAP2K1, CBL
34
Show member pathways
Signaling Pathways in Glioblastoma37
8.0MAP2K1, RAF1, NRAS, CBL, BRAF, SOS1
358.0MAP2K1, CBL, BRAF, NRAS, RAF1, KRAS
36
Show member pathways
Signal transduction PTEN pathway60
8.0MAP2K1, NRAS, RAF1, SOS1, KRAS, CBL
37
Show member pathways
ErbB receptor signaling network37
ErbB signaling pathway37
8.0NRAS, BRAF, KRAS, MAP2K1, CBL, SOS1
38
Show member pathways
MAPK signaling pathway37
7.8RASA2, MAP2K1, SOS1, KRAS, NRAS, RAF1
397.7PTPN11, KRAS, RAF1, NRAS, MAP2K1, CBL
40
Show member pathways
7.7KRAS, NRAS, MAP2K1, RAF1, CBL, BRAF
41
Show member pathways
7.7KRAS, CBL, RAF1, NRAS, MAP2K1, PTPN11
42
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
7.7NRAS, CBL, KRAS, PTPN11, SOS1, BRAF
43
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
7.7KRAS, SOS1, RAF1, NRAS, MAP2K1, CBL
44
Show member pathways
Immune response CD16 signaling in NK cells60
7.7RAF1, KRAS, NRAS, PTPN11, SOS1, BRAF
45
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
7.7RAF1, NRAS, MAP2K1, CBL, BRAF, SOS1
467.6MAP2K1, KRAS, RAF1, CBL, SOS1, PTPN11
47
Show member pathways
7.6KRAS, RASA2, RAF1, NRAS, MAP2K1, BRAF
48
Show member pathways
7.5BRAF, KRAS, RAF1, NRAS, KAT6B, MAP2K1
49
Show member pathways
7.5PTPN11, SOS1, BRAF, CBL, MAP2K1, NRAS
50
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
7.5NRAS, SOS1, KRAS, BRAF, CBL, RASA2

Compounds for genes affiliated with Noonan Syndrome 1

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Compounds related to Noonan Syndrome 1 according to GeneCards/GeneDecks:

(show all 44)
idCompoundScoreTop Affiliating Genes
1gdc 08796110.1BRAF, RAF1
2l-779,4506110.1BRAF, RAF1
3gw 50746110.1BRAF, RAF1
4sb 5908856110.1BRAF, RAF1
5gw-50744410.1RAF1, BRAF
6zm 33637261 4411.1RAF1, BRAF
7panitumumab44 50 1112.1KRAS, BRAF
8trametinib50 1111.0MAP2K1, BRAF
9pd-1843524410.0KRAS, RAF1, MAP2K1
10regorafenib50 1110.9KRAS, RAF1, BRAF
11dabrafenib50 1110.9BRAF, RAF1
12manumycin449.8RAF1, MAP2K1
1317-(allylamino)-17-demethoxygeldanamycin449.8RAF1, MAP2K1, BRAF
14herbimycin a44 6110.6RAF1, MAP2K1, PTPN11
15geldanamycin44 50 61 1112.6RAF1, CBL, BRAF
16ag 1478449.6PTPN11, CBL, MAP2K1, RAF1
17sphingosine44 24 1111.5RASA2, MAP2K1, PTPN11
18sb 20358044 6110.5PTPN11, BRAF, MAP2K1, RAF1
19paclitaxel44 50 1111.4BRAF, MAP2K1, RAF1, KRAS
20forskolin44 50 1111.4PTPN11, BRAF, MAP2K1, RAF1
21valine449.4KRAS, RAF1, BRAF
22lysine449.3MAP2K1, CBL, BRAF, PTPN11
23ly294002449.3PTPN11, BRAF, MAP2K1, RAF1, KRAS
24phenylalanine449.3PTPN11, BRAF, CBL, RASA2
25h2o2449.3PTPN11, CBL, MAP2K1, RAF1, KRAS
26cisplatin44 50 61 1112.3PTPN11, BRAF, MAP2K1, RAF1, KRAS
27agar449.3PTPN11, BRAF, MAP2K1, NRAS, RAF1
28oligonucleotide449.2PTPN11, BRAF, NRAS, RAF1, KRAS
29vegf449.2PTPN11, BRAF, MAP2K1, RAF1, KRAS
30Guanosine triphosphate249.1SOS1, NRAS, KRAS, RIT1
31phosphotyrosine449.1RASA2, RAF1, MAP2K1, CBL, PTPN11
32threonine449.1PTPN11, BRAF, CBL, MAP2K1, RAF1
33alanine449.0PTPN11, BRAF, CBL, MAP2K1, RAF1
34guanine44 24 1111.0CBL, RAF1, RASA2
35imatinib44 50 1110.9KRAS, PTPN11, BRAF, CBL, MAP2K1, RAF1
36retinoic acid44 249.9BRAF, CBL, MAP2K1, RAF1, KRAS
37rapamycin448.9PTPN11, BRAF, CBL, MAP2K1, RAF1, KRAS
38wortmannin448.9PTPN11, BRAF, CBL, MAP2K1, RAF1, KRAS
39phosphoinositide448.9PTPN11, BRAF, CBL, MAP2K1, RAF1, KRAS
40gtp44 289.9SOS1, BRAF, RAF1, RASA2, KRAS
41lipid448.5PTPN11, SOS1, BRAF, CBL, RASA2, KRAS
42serine448.4PTPN11, SOS1, BRAF, CBL, MAP2K1, RAF1
43phosphatidylinositol448.0PTPN11, SOS1, BRAF, CBL, MAP2K1, RAF1
44tyrosine447.6PTPN11, SOS1, BRAF, CBL, MAP2K1, NRAS

GO Terms for genes affiliated with Noonan Syndrome 1

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

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058867.7RIT1, KRAS, RAF1, NRAS, MAP2K1, CBL

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of Rac protein signal transductionGO:03502210.1KRAS, NRAS
2regulation of synaptic transmission, GABAergicGO:03222810.1KRAS, NRAS
3striated muscle cell differentiationGO:05114610.0NRAS, KRAS
4GTP catabolic processGO:0061849.7RIT1, KRAS, NRAS
5positive regulation of Ras protein signal transductionGO:0465799.6MAP2K1, SHOC2
6positive regulation of Ras GTPase activityGO:0323209.6RASA2, MAP2K1
7negative regulation of neuron apoptotic processGO:0435249.6BRAF, NRAS, KRAS
8regulation of long-term neuronal synaptic plasticityGO:0481699.6KRAS, NRAS
9MAPK cascadeGO:0001659.5MAP2K1, NRAS, RAF1, KRAS
10leukocyte migrationGO:0509009.4KRAS, NRAS, SOS1, PTPN11
11positive regulation of gene expressionGO:0106289.3BRAF, MAP2K1, KRAS
12activation of MAPKK activityGO:0001869.1BRAF, MAP2K1, NRAS, RAF1, KRAS
13blood coagulationGO:0075969.1PTPN11, SOS1, NRAS, RAF1, KRAS
14insulin receptor signaling pathwayGO:0082868.8PTPN11, SOS1, MAP2K1, NRAS, RAF1, KRAS
15Fc-epsilon receptor signaling pathwayGO:0380958.8PTPN11, SOS1, MAP2K1, NRAS, RAF1, KRAS
16axon guidanceGO:0074118.8PTPN11, SOS1, MAP2K1, NRAS, RAF1, KRAS
17innate immune responseGO:0450878.8PTPN11, SOS1, MAP2K1, NRAS, RAF1, KRAS
18signal transductionGO:0071658.7RIT1, RASA2, RAF1, MAP2K1, SOS1
19epidermal growth factor receptor signaling pathwayGO:0071738.5PTPN11, SOS1, CBL, MAP2K1, NRAS, RAF1
20small GTPase mediated signal transductionGO:0072648.4SOS1, BRAF, MAP2K1, NRAS, RAF1, KRAS
21Ras protein signal transductionGO:0072658.3SHOC2, SOS1, MAP2K1, NRAS, RAF1, KRAS
22neurotrophin TRK receptor signaling pathwayGO:0480118.2PTPN11, SOS1, BRAF, MAP2K1, NRAS, RAF1
23fibroblast growth factor receptor signaling pathwayGO:0085437.6KRAS, SHOC2, PTPN11, SOS1, BRAF, CBL

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

idNameGO IDScoreTop Affiliating Genes
1small GTPase bindingGO:0312679.8RAF1, BRAF
2mitogen-activated protein kinase kinase bindingGO:0314349.8RAF1, BRAF
3MAP kinase kinase kinase activityGO:0047099.5RAF1, BRAF
4protein kinase activityGO:0046729.4RAF1, MAP2K1, BRAF
5protein bindingGO:0055156.9KAT6B, PTPN11, SOS1, BRAF, CBL, MAP2K1

Products for genes affiliated with Noonan Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates

Sources for Noonan Syndrome 1

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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