NS3
MCID: NNN010
MIFTS: 49

Noonan Syndrome 3 (NS3)

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

Aliases & Classifications for Noonan Syndrome 3

Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot : 73 Noonan syndrome 3: 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.

MalaCards based summary : Noonan Syndrome 3, also known as ns3, is related to hepatitis c virus and hepatitis c. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Regulation of lipid metabolism Insulin signaling-generic cascades and Endometrial cancer. Affiliated tissues include heart, skin and bone, and related phenotypes are cryptorchidism and cystic hygroma

Disease Ontology : 12 A Noonan syndrome that has material basis in heterozygous mutation in the KRAS gene.

OMIM : 56 Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11. (609942)

Related Diseases for Noonan Syndrome 3

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2 Noonan Syndrome 3
Noonan Syndrome 4 Noonan Syndrome 5
Noonan Syndrome 6 Noonan Syndrome 7
Noonan Syndrome 8 Noonan Syndrome 9
Noonan Syndrome 10 Noonan Syndrome 11
Noonan Syndrome 12

Diseases related to Noonan Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 11.3
2 hepatitis c 11.2
3 dengue virus 11.0
4 encephalitis 10.8
5 west nile virus 10.7
6 japanese encephalitis 10.7
7 diarrhea 10.7
8 vaccinia 10.7
9 signet ring basal cell carcinoma 10.7 KRAS HRAS
10 trachea carcinoma in situ 10.7 KRAS HRAS
11 yellow fever 10.7
12 cobblestone retinal degeneration 10.7 KRAS HRAS
13 nasal cavity adenocarcinoma 10.7 KRAS HRAS
14 breast squamous cell carcinoma 10.6 LRRC56 HRAS
15 ampulla of vater neoplasm 10.6 KRAS HRAS
16 liver cirrhosis 10.6
17 descending colon cancer 10.6 KRAS HRAS
18 periampullary adenoma 10.6 KRAS HRAS
19 adenosquamous lung carcinoma 10.6 KRAS HRAS
20 spitz nevus 10.6 LRRC56 HRAS
21 acneiform dermatitis 10.6 KRAS HRAS
22 transverse colon cancer 10.6 KRAS HRAS
23 appendiceal neoplasm 10.6 KRAS HRAS
24 gallbladder benign neoplasm 10.6 KRAS HRAS
25 neurofibromatosis 10.6 PTPN11 KRAS HRAS
26 myh-associated polyposis 10.6 KRAS HRAS
27 appendix adenocarcinoma 10.6 KRAS HRAS
28 leopard syndrome 2 10.6 RAF1 PTPN11
29 mucinous lung adenocarcinoma 10.6 KRAS HRAS
30 large intestine adenocarcinoma 10.6 LRRC56 KRAS HRAS
31 noonan syndrome and noonan-related syndrome 10.6 SOS1 RAF1 PTPN11
32 skin granular cell tumor 10.6 SOS1 SHOC2 PTPN11
33 testicular spermatocytic seminoma 10.6 PTPN11 HRAS
34 pulmonary valve disease 10.6 SOS1 SHOC2 PTPN11
35 respiratory system benign neoplasm 10.6 RAF1 KRAS HRAS
36 pulmonary valve stenosis 10.6 SOS1 SHOC2 PTPN11
37 wolffian duct adenocarcinoma 10.6 KRAS HRAS
38 lung adenoma 10.6 RAF1 KRAS HRAS
39 heart septal defect 10.6 SOS1 SHOC2 PTPN11
40 embryonal rhabdomyosarcoma 10.6 PTPN11 KRAS HRAS
41 dengue disease 10.6
42 villonodular synovitis 10.6 SOS1 PTPN11
43 ascending colon cancer 10.6 KRAS HRAS
44 biliary tract benign neoplasm 10.6 KRAS HRAS
45 serous cystadenocarcinoma 10.6 LRRC56 KRAS HRAS
46 tumor of exocrine pancreas 10.6 KRAS HRAS
47 patent ductus arteriosus 1 10.6 SOS1 SHOC2 PTPN11
48 pancreatic acinar cell adenocarcinoma 10.5 KRAS HRAS
49 endosalpingiosis 10.5 KRAS HRAS
50 neurofibromatosis-noonan syndrome 10.5 SOS1 SHOC2 PTPN11 HRAS

Graphical network of the top 20 diseases related to Noonan Syndrome 3:



Diseases related to Noonan Syndrome 3

Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

31 (show all 29)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 very rare (1%) HP:0000028
2 cystic hygroma 31 very rare (1%) HP:0000476
3 global developmental delay 31 HP:0001263
4 delayed skeletal maturation 31 HP:0002750
5 hypertelorism 31 HP:0000316
6 macrocephaly 31 HP:0000256
7 short nose 31 HP:0003196
8 anteverted nares 31 HP:0000463
9 short stature 31 HP:0004322
10 hypertrophic cardiomyopathy 31 HP:0001639
11 frontal bossing 31 HP:0002007
12 high palate 31 HP:0000218
13 low-set ears 31 HP:0000369
14 webbed neck 31 HP:0000465
15 epicanthus 31 HP:0000286
16 pectus excavatum 31 HP:0000767
17 atrial septal defect 31 HP:0001631
18 mitral valve prolapse 31 HP:0001634
19 downslanted palpebral fissures 31 HP:0000494
20 polyhydramnios 31 HP:0001561
21 patent ductus arteriosus 31 HP:0001643
22 ventricular septal defect 31 HP:0001629
23 pulmonic stenosis 31 HP:0001642
24 posteriorly rotated ears 31 HP:0000358
25 hypoplastic nasal bridge 31 HP:0005281
26 sagittal craniosynostosis 31 HP:0004442
27 scaphocephaly 31 HP:0030799
28 atrial septal dilatation 31 HP:0011995
29 juvenile myelomonocytic leukemia 31 HP:0012209

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Growth Height:
short stature

Head And Neck Face:
frontal bossing

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal:
delayed bone age

Head And Neck Neck:
webbed neck (in some patients)
cystic hygroma (in some patients)

Chest External Features:
broad thorax
thorax deformities

Head And Neck Nose:
short nose
anteverted nares
hypoplastic nasal bridge

Cardiovascular Heart:
hypertrophic cardiomyopathy
atrial septal defect
mitral valve prolapse
patent ductus arteriosus
ventricular septal defect
more
Head And Neck Mouth:
high palate

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Skeletal Skull:
craniosynostosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Neurologic Central Nervous System:
developmental delay, mild to severe (in some patients)

Clinical features from OMIM:

609942

MGI Mouse Phenotypes related to Noonan Syndrome 3:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.61 AFF4 DBH HRAS KRAS PTPN11 RAF1
2 respiratory system MP:0005388 9.17 AFF4 GNL3 HRAS KRAS PTPN11 RAF1

Drugs & Therapeutics for Noonan Syndrome 3

Search Clinical Trials , NIH Clinical Center for Noonan Syndrome 3

Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 29 KRAS

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

40
Heart, Skin, Bone

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show all 13)
# Title Authors PMID Year
1
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations. 6 56
19396835 2009
2
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome. 6 56
16474404 2006
3
Germline KRAS mutations cause Noonan syndrome. 56 6
16474405 2006
4
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). 6
25173338 2014
5
Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship? 6
22211815 2012
6
Noonan syndrome: clinical features, diagnosis, and management guidelines. 6
20876176 2010
7
Leopard syndrome. 6
18505544 2008
8
The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders. 6
18386799 2008
9
Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene. 6
17468812 2007
10
Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype. 6
16773572 2006
11
Noonan Syndrome 6
20301303 2001
12
Feeding difficulties and foregut dysmotility in Noonan's syndrome. 56
10373129 1999
13
Ocular pathology in congenital heart disease. 61
15184955 2005

Variations for Noonan Syndrome 3

ClinVar genetic disease variations for Noonan Syndrome 3:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRAS NM_033360.4(KRAS):c.440A>G (p.Lys147Arg)SNV Pathogenic 431103 rs1135401776 12:25378558-25378558 12:25225624-25225624
2 SHOC2 NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)SNV Pathogenic 6821 rs267607048 10:112724120-112724120 10:110964362-110964362
3 KRAS NM_033360.4(KRAS):c.*12A>TSNV Pathogenic 12587 rs104894360 12:25362838-25362838 12:25209904-25209904
4 KRAS NM_033360.4(KRAS):c.173C>T (p.Thr58Ile)SNV Pathogenic 12588 rs104894364 12:25380285-25380285 12:25227351-25227351
5 KRAS NM_033360.4(KRAS):c.40G>A (p.Val14Ile)SNV Pathogenic 12589 rs104894365 12:25398279-25398279 12:25245345-25245345
6 PTPN11 NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)SNV Pathogenic 13327 rs121918455 12:112915524-112915524 12:112477720-112477720
7 PTPN11 NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)SNV Pathogenic 13333 rs121918459 12:112888172-112888172 12:112450368-112450368
8 PTPN11 NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)SNV Pathogenic 13340 rs121918466 12:112888220-112888220 12:112450416-112450416
9 PTPN11 NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)SNV Pathogenic 13342 rs121918468 12:112926248-112926248 12:112488444-112488444
10 PTPN11 NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)SNV Pathogenic 13344 rs121918470 12:112926909-112926909 12:112489105-112489105
11 KRAS NM_033360.4(KRAS):c.65A>G (p.Gln22Arg)SNV Pathogenic 40452 rs727503110 12:25398254-25398254 12:25245320-25245320
12 KRAS NM_033360.4(KRAS):c.*9T>GSNV Pathogenic 12591 rs104894367 12:25362841-25362841 12:25209907-25209907
13 PTPN11 NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)SNV Pathogenic 40488 rs397507506 12:112888158-112888158 12:112450354-112450354
14 PTPN11 NM_002834.4(PTPN11):c.181G>C (p.Asp61His)SNV Pathogenic 40494 rs397507510 12:112888165-112888165 12:112450361-112450361
15 PTPN11 NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)SNV Pathogenic 40495 rs397507510 12:112888165-112888165 12:112450361-112450361
16 KRAS NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)SNV Pathogenic 12597 rs104894359 12:25380280-25380280 12:25227346-25227346
17 PTPN11 NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)SNV Pathogenic 40513 rs397507520 12:112891083-112891083 12:112453279-112453279
18 PTPN11 NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)SNV Pathogenic 40566 rs397507549 12:112926908-112926908 12:112489104-112489104
19 SOS1 NM_005633.3(SOS1):c.1655G>A (p.Arg552Lys)SNV Pathogenic 40683 rs397517154 2:39249914-39249914 2:39022773-39022773
20 PTPN11 NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)SNV Pathogenic 44615 rs397516810 12:112915456-112915456 12:112477652-112477652
21 SOS1 NM_005633.3(SOS1):c.2197A>T (p.Ile733Phe)SNV Pathogenic/Likely pathogenic 40701 rs574088829 2:39239460-39239460 2:39012319-39012319
22 PTPN11 NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)SNV Pathogenic/Likely pathogenic 40528 rs397507531 12:112910844-112910844 12:112473040-112473040
23 HRAS NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)SNV Pathogenic/Likely pathogenic 12601 rs28933406 11:533875-533875 11:533875-533875
24 PTPN11 NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)SNV Pathogenic/Likely pathogenic 13325 rs121918454 12:112888199-112888199 12:112450395-112450395
25 PTPN11 NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)SNV Pathogenic/Likely pathogenic 40499 rs397507512 12:112888195-112888195 12:112450391-112450391
26 PTPN11 NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)SNV Pathogenic/Likely pathogenic 40500 rs121918453 12:112888198-112888198 12:112450394-112450394
27 PTPN11 NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)SNV Pathogenic/Likely pathogenic 40507 rs397507518 12:112888312-112888312 12:112450508-112450508
28 KRAS NM_033360.4(KRAS):c.101C>G (p.Pro34Arg)SNV Pathogenic/Likely pathogenic 12590 rs104894366 12:25398218-25398218 12:25245284-25245284
29 RAF1 NM_001354689.3(RAF1):c.788T>A (p.Val263Asp)SNV Pathogenic/Likely pathogenic 496189 rs397516830 3:12645681-12645681 3:12604182-12604182
30 KRAS NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)SNV Likely pathogenic 40460 rs730880471 12:25378643-25378643 12:25225709-25225709
31 KRAS NM_033360.4(KRAS):c.13A>G (p.Lys5Glu)SNV Likely pathogenic 12596 rs193929331 12:25398306-25398306 12:25245372-25245372
32 KRAS NM_033360.4(KRAS):c.458A>T (p.Glu153Val)SNV Likely pathogenic 637030 12:25368487-25368487 12:25215553-25215553
33 PTPN11 NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)SNV Likely pathogenic 164997 rs727503380 12:112888190-112888190 12:112450386-112450386
34 HRAS NM_005343.4(HRAS):c.183G>T (p.Gln61His)SNV Likely pathogenic 376318 rs121913496 11:533873-533873 11:533873-533873
35 KRAS NM_033360.4(KRAS):c.112-5C>TSNV Conflicting interpretations of pathogenicity 626130 rs376520586 12:25380351-25380351 12:25227417-25227417
36 KRAS NM_033360.4(KRAS):c.111+8T>GSNV Uncertain significance 883635 12:25398200-25398200 12:25245266-25245266
37 KRAS NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)SNV Uncertain significance 438796 rs1555194026 12:25380264-25380264 12:25227330-25227330
38 KRAS NM_033360.4(KRAS):c.*44C>TSNV Likely benign 547512 rs1555192443 12:25362806-25362806 12:25209872-25209872
39 KRAS NM_033360.4(KRAS):c.*5-9G>ASNV Benign/Likely benign 40464 rs12313763 12:25362854-25362854 12:25209920-25209920
40 KRAS NM_033360.4(KRAS):c.483= (p.Arg161=)SNV Benign 46538 rs4362222 12:25368462-25368462 12:25215528-25215528

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 3:

73
# Symbol AA change Variation ID SNP ID
1 KRAS p.Val14Ile VAR_026109 rs104894365
2 KRAS p.Thr58Ile VAR_026111 rs104894364
3 KRAS p.Gln22Arg VAR_064851 rs727503110
4 KRAS p.Pro34Leu VAR_064852 rs104894366
5 KRAS p.Pro34Gln VAR_064853
6 KRAS p.Ile36Met VAR_064854 rs727503109
7 KRAS p.Lys5Glu VAR_065144 rs193929331
8 KRAS p.Gly60Ser VAR_065146 rs104894359

Expression for Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Pathways for Noonan Syndrome 3

Pathways related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.92 SOS1 RAF1 PTPN11 KRAS HRAS
2
Show member pathways
12.89 SOS1 RAF1 PTPN11 KRAS HRAS
3
Show member pathways
12.81 SOS1 RAF1 PTPN11 KRAS HRAS
4
Show member pathways
12.74 SOS1 RAF1 PTPN11 KRAS HRAS
5
Show member pathways
12.7 SOS1 SHOC2 RAF1 PTPN11 KRAS HRAS
6
Show member pathways
12.65 SOS1 RAF1 PTPN11 KRAS HRAS
7
Show member pathways
12.63 SOS1 RAF1 PTPN11 KRAS HRAS
8
Show member pathways
12.6 SOS1 RAF1 PTPN11 KRAS HRAS
9 12.55 SOS1 RAF1 KRAS HRAS
10
Show member pathways
12.54 SOS1 RAF1 PTPN11 HRAS
11
Show member pathways
12.52 SOS1 RAF1 KRAS HRAS
12
Show member pathways
12.52 SOS1 RAF1 KRAS HRAS
13
Show member pathways
12.52 SOS1 RAF1 PTPN11 KRAS HRAS
14
Show member pathways
12.51 SOS1 PTPN11 KRAS HRAS
15
Show member pathways
12.49 SOS1 RAF1 PTPN11 KRAS HRAS
16
Show member pathways
12.47 SOS1 RAF1 PTPN11 KRAS HRAS
17
Show member pathways
12.45 SOS1 RAF1 PTPN11 KRAS HRAS
18
Show member pathways
12.43 SOS1 RAF1 KRAS HRAS
19
Show member pathways
12.42 SOS1 RAF1 PTPN11 HRAS
20
Show member pathways
12.4 SOS1 RAF1 PTPN11 KRAS HRAS
21
Show member pathways
12.39 SOS1 RAF1 PTPN11 KRAS HRAS
22
Show member pathways
12.38 SOS1 RAF1 PTPN11 KRAS HRAS
23
Show member pathways
12.36 SOS1 RAF1 KRAS HRAS
24
Show member pathways
12.34 SOS1 RAF1 KRAS HRAS
25
Show member pathways
12.33 SOS1 RAF1 PTPN11 HRAS
26
Show member pathways
12.32 SOS1 RAF1 PTPN11 KRAS HRAS
27
Show member pathways
12.3 SOS1 PTPN11 KRAS HRAS
28 12.27 RAF1 PTPN11 KRAS HRAS
29
Show member pathways
12.26 SOS1 PTPN11 KRAS HRAS
30
Show member pathways
12.24 RAF1 PTPN11 KRAS HRAS
31
Show member pathways
12.23 SOS1 RAF1 KRAS HRAS
32 12.23 SOS1 RAF1 PTPN11 KRAS HRAS
33
Show member pathways
12.21 SOS1 RAF1 PTPN11 KRAS HRAS
34
Show member pathways
12.2 SOS1 RAF1 PTPN11 HRAS
35
Show member pathways
12.16 SOS1 RAF1 KRAS HRAS
36
Show member pathways
12.13 RAF1 KRAS HRAS
37
Show member pathways
12.09 SOS1 RAF1 KRAS HRAS
38 12.09 RAF1 RAB39B KRAS HRAS
39 12.09 SOS1 RAF1 PTPN11 KRAS HRAS
40
Show member pathways
12.03 SOS1 RAF1 PTPN11 KRAS HRAS
41
Show member pathways
11.97 RAF1 KRAS HRAS
42 11.97 SOS1 RAF1 KRAS HRAS
43
Show member pathways
11.96 SOS1 KRAS HRAS
44
Show member pathways
11.96 SOS1 RAF1 PTPN11 KRAS HRAS
45 11.9 SOS1 RAF1 KRAS
46
Show member pathways
11.88 SOS1 PTPN11 HRAS
47
Show member pathways
11.88 SOS1 KRAS HRAS
48
Show member pathways
11.87 SOS1 KRAS HRAS
49
Show member pathways
11.87 SOS1 RAF1 PTPN11 HRAS
50
Show member pathways
11.83 RAF1 KRAS HRAS

GO Terms for Noonan Syndrome 3

Biological processes related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.56 SOS1 RAF1 KRAS HRAS
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.5 RAF1 KRAS HRAS
3 response to isolation stress GO:0035900 9.16 KRAS HRAS
4 neurotrophin TRK receptor signaling pathway GO:0048011 9.13 SOS1 RAF1 PTPN11
5 Ras protein signal transduction GO:0007265 8.92 SOS1 SHOC2 KRAS HRAS

Molecular functions related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.02 RAB39B LSG1 KRAS HRAS GNL3

Sources for Noonan Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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