NS3
MCID: NNN010
MIFTS: 65

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 : 76 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. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. The drugs Ribavirin and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are cystic hygroma and macrocephaly

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

OMIM : 58 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

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 hepatitis c virus 32.5 CD81 DDX58 IFNL3 IRF3
2 hepatitis 32.5 CD81 DDX58 IFNA1 IRF3 MAVS
3 hepatitis c 32.4 CD81 DDX58 IFNA1 IFNB1 IRF3 MAVS
4 noonan syndrome 5 31.7 RAF1 RIT2 SENP8
5 west nile virus 31.5 DDX58 IFNA1 IRF3
6 noonan syndrome 2 31.0 CD81 DDX58 IRF3 MAVS MIR7-3HG PRB2
7 newcastle disease 30.5 DDX58 IFNA1 IFNB1 IRF3
8 dengue virus 10.8
9 encephalitis 10.6
10 diarrhea 10.6
11 sigmoid neoplasm 10.6 HRAS KRAS
12 japanese encephalitis 10.6
13 oral erosive lichen 10.5 IFNA1 IFNB1
14 apocrine adenoma 10.5 HRAS KRAS
15 leopard syndrome 10.5 HRAS PTPN11 RAF1
16 lung benign neoplasm 10.5 HRAS KRAS RAF1
17 prostate adenoid cystic carcinoma 10.5 HRAS LRRC56
18 periampullary adenoma 10.5 HRAS KRAS
19 exanthem 10.5 HRAS KRAS SENP8
20 costello syndrome 10.5 HRAS KRAS PTPN11 SOS1
21 paronychia 10.5 HRAS KRAS
22 la crosse encephalitis 10.5 DDX58 IFNB1 IRF3
23 leukemia, chronic lymphocytic 2 10.5 HRAS KRAS PTPN11
24 villonodular synovitis 10.5 PTPN11 SOS1
25 juvenile myelomonocytic leukemia 10.5 KRAS PTPN11 RAF1 SOS1
26 cryptorchidism, unilateral or bilateral 10.5 PTPN11 SHOC2 SOS1
27 schimmelpenning-feuerstein-mims syndrome 10.5 HRAS KRAS
28 hypertrophic cardiomyopathy 10.5 KRAS PTPN11 RAF1 SOS1
29 severe acute respiratory syndrome 10.5 IFNA1 IFNB1 IRF3
30 cardiofaciocutaneous syndrome 1 10.4 HRAS KRAS PTPN11 SHOC2 SOS1
31 gastrointestinal system disease 10.4 HRAS IFNA1 KRAS MIR7-3HG
32 gastrointestinal system cancer 10.4 HRAS KRAS MIR7-3HG
33 med23 10.4 IFNL3 KRAS
34 myeloma, multiple 10.4 HRAS IFNA1 KRAS PTPN11
35 spitz nevus 10.4 HRAS LRRC56
36 large intestine cancer 10.4 HRAS IFNA1 KRAS PTPN11 RAF1
37 endocrine gland cancer 10.4 HRAS KRAS MIR7-3HG
38 pulmonic stenosis 10.4 HRAS KRAS LRRC56 PTPN11 RAF1 SOS1
39 bile duct cysts 10.4 HRAS KRAS
40 herpes simplex 10.4 DDX58 IFNA1 IFNB1 IRF3
41 hepatocellular carcinoma 10.4
42 influenza 10.4 DDX58 IFNA1 IFNB1 IRF3
43 yellow fever 10.3
44 tick-borne encephalitis 10.3
45 viral infectious disease 10.3 CD81 DDX58 IFNA1 IFNB1 IRF3 MAVS
46 lentigines 10.3 PTPN11 RAF1
47 spindle cell hemangioma 10.3
48 measles 10.2 DDX58 IFNA1 IFNB1
49 helix syndrome 10.2
50 vaccinia 10.2

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:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 cystic hygroma 33 very rare (1%) HP:0000476
2 macrocephaly 33 HP:0000256
3 hypertelorism 33 HP:0000316
4 low-set ears 33 HP:0000369
5 frontal bossing 33 HP:0002007
6 global developmental delay 33 HP:0001263
7 short nose 33 HP:0003196
8 anteverted nares 33 HP:0000463
9 short stature 33 HP:0004322
10 hypertrophic cardiomyopathy 33 HP:0001639
11 patent ductus arteriosus 33 HP:0001643
12 epicanthus 33 HP:0000286
13 webbed neck 33 HP:0000465
14 atrial septal defect 33 HP:0001631
15 mitral valve prolapse 33 HP:0001634
16 downslanted palpebral fissures 33 HP:0000494
17 ventricular septal defect 33 HP:0001629
18 pulmonic stenosis 33 HP:0001642
19 posteriorly rotated ears 33 HP:0000358
20 sagittal craniosynostosis 33 HP:0004442
21 hypoplastic nasal bridge 33 HP:0005281
22 scaphocephaly 33 HP:0030799
23 juvenile myelomonocytic leukemia 33 HP:0012209
24 atrial septal dilatation 33 HP:0011995

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Head And Neck Face:
frontal bossing

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

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
atrial septal defect
mitral valve prolapse
ventricular septal defect
more
Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

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

Chest External Features:
broad thorax
thorax deformities

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

Head And Neck Mouth:
high palate

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
delayed bone age

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.93 CD81 DDX58 HRAS IFNB1 IRF3 KRAS
2 digestive/alimentary MP:0005381 9.8 DDX58 HRAS KRAS MAVS NRBP1 PTPN11
3 neoplasm MP:0002006 9.5 DDX58 HRAS IFNB1 KRAS NRBP1 PTPN11
4 respiratory system MP:0005388 9.17 CD81 HRAS KRAS MAVS PTPN11 RAF1

Drugs & Therapeutics for Noonan Syndrome 3

Drugs for Noonan Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4,Phase 3,Phase 2,Phase 1 36791-04-5 37542
2
Sofosbuvir Approved Phase 4,Phase 3,Phase 2 1190307-88-0 45375808
3
Velpatasvir Approved, Investigational Phase 4,Phase 2 1377049-84-7 67683363
4
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
5 Interferon alpha-2 Phase 4,Phase 3,Phase 2
6 Interferon-alpha Phase 4,Phase 2,Phase 3,Phase 1
7 interferons Phase 4,Phase 3,Phase 2,Phase 1
8 MK-5172 Phase 4,Phase 3,Phase 2,Phase 1
9 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Liver Extracts Phase 4,Phase 3,Phase 2
12 Elbasvir-grazoprevir drug combination Phase 4,Phase 3,Phase 2,Phase 1
13 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
14 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
15
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
16 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
17 Sofosbuvir-velpatasvir drug combination Phase 4
18 Iron-Dextran Complex Phase 4
19
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
20
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
21
Ledipasvir Approved Phase 2, Phase 3,Phase 3 1256388-51-8 67505836
22
Peginterferon alfa-2b Approved Phase 2, Phase 3,Phase 1 215647-85-1, 99210-65-8
23
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
24
Tenofovir Approved, Experimental, Investigational Phase 2, Phase 3 147127-20-6 464205
25
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
26 Anti-HIV Agents Phase 3,Phase 2
27 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
28 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
29 Anti-Retroviral Agents Phase 3,Phase 2
30 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
31 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3,Phase 3
32 Antibodies Phase 2, Phase 3
33 Reverse Transcriptase Inhibitors Phase 2, Phase 3
34 Immunoglobulins Phase 2, Phase 3
35 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
36 Raltegravir Potassium Phase 3
37 Atazanavir Sulfate Phase 3
38
tannic acid Approved Phase 2 1401-55-4
39
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
40
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
41
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
42
Tacrolimus Approved, Investigational Phase 2 104987-11-3 6473866 445643 439492
43 Pharmaceutical Solutions Phase 2,Phase 1
44 Vaccines Phase 2,Phase 1
45 Brewer's Yeast Phase 2,Phase 1
46 Dermatologic Agents Phase 2
47 triamcinolone acetonide Phase 2
48 Triamcinolone hexacetonide Phase 2
49 Cyclosporins Phase 2
50 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show all 50)
# Name Status NCT ID Phase Drugs
1 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4 Grazoprevir plus Elbasvir
2 deLIVER: Direct Acting Antiviral Effects on the Liver Active, not recruiting NCT02938013 Phase 4 Sofosbuvir/Velpatasvir/Voxilaprevir [SOF/VEL/VOX];Sofosbuvir/Velpatasvir (SOF/VEL)
3 Administration of Zepatier (Grazoprevir Plus Elbasvir) in Chronic Hemodialysis (HD) Patients With Hepatitis C Not yet recruiting NCT03365635 Phase 4 Elbasvir 50 MG / Grazoprevir 100 MG [Zepatier]
4 Telaprevir, Peg-IFN-alfa-2a, and RBV in Treatment-Experienced Black/African American and Non-Black/African American Subjects With Genotype 1 Chronic Hepatitis C Terminated NCT01467492 Phase 4 Telaprevir;Ribavirin
5 A Clinical Trial of 16 Weeks of Duration to Evaluate Retreatment With Elbasvir/Grazoprevir Plus Sofosbuvir and Ribavirin in Patients With Chronic Hepatitis C Genotypes 1,4 Who Have Failed to Treat With a Regime Based on an Inhibitor of the NS5A Withdrawn NCT03105349 Phase 4 elbasvir/grazoprevir;Sofosbuvir;Ribavirin
6 A Follow up Study Designed to Obtain Long Term Data on Participants Who Either Achieved a Sustained Virologic Response or Did Not Achieve a Sustained Virologic Response in an AbbVie Sponsored Hepatitis C Study Completed NCT01773070 Phase 3 ABT-450/ritonavir;ABT-333;ABT-267
7 3-year Follow-up Study in Patients Previously Treated With TMC435-Containing Regimen for the Treatment of Hepatitis C Virus Infection Completed NCT01349465 Phase 3 No treatment
8 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Completed NCT03186365 Phase 3 Zepatier Oral Product
9 Efficacy and Safety Study of Simeprevir in Combination With Sofosbuvir in Participants With Genotype 1 Chronic Hepatitis C Virus Infection and Cirrhosis Completed NCT02114151 Phase 3 Simeprevir;Sofosbuvir
10 A Study to Evaluate Ombitasvir/Paritaprevir/Ritonavir and Dasabuvir in Treatment-Naïve Hepatitis C Virus Genotype 1b-Infected Adults Completed NCT02582632 Phase 3 ombitasvir/paritaprevir/ritonavir;dasabuvir
11 DAAs Treatment for Chronic HCV/HBV Co-infection Patients(DASCO) Recruiting NCT02555943 Phase 2, Phase 3 Ledipasvir/Sofosbuvir;Sofosbuvir and Daclatasvir;Ombitasvir, Paritaprevir, Ritonavir, Dasabuvir;Entecavir;Tenofovir disoproxil
12 Three-year Follow-up of Participants After Administration of Boceprevir or Narlaprevir for the Treatment of Chronic Hepatitis C (P05063) Terminated NCT00689390 Phase 2, Phase 3 Ribavirin
13 A Study to Treat Subjects With Telaprevir, Ribavirin, and Peginterferon Who Are Coinfected With HIV and Hepatitis C Virus (HCV) Terminated NCT01467479 Phase 3 Telaprevir;Ribavirin;Highly Active Antiretroviral Therapy (HAART)
14 Efficacy and Safety of Ledipasvir/Sofosbuvir, With or Without Ribavirin, in HCV Infected Participants Who Have Failed Prior Treatment With Sofosbuvir-based Therapies Terminated NCT02600351 Phase 3 LDV/SOF;RBV
15 CHRONVAC-C Study Followed by Standard of Care in Chronic Hepatitis C Virus (HCV) Subjects Unknown status NCT01335711 Phase 2 ChronVac-C + SOC;SOC
16 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Completed NCT03119025 Phase 1, Phase 2
17 Pilot Study to Assess Efficacy and Safety of Sofosbuvir/Ledipasvir Fixed-dose Combination in Treatment Experienced Subjects With Hepatitis C Virus (HCV) Genotype 1 - HIV Co-infection Completed NCT02125500 Phase 2 Sofosbuvir/Ledipasvir fixed dose
18 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Combined With Pegylated Interferon Plus Ribavirin Standard of Care Therapy Versus Standard of Care Alone in Patients With Genotype 1 Chronic Hepatitis C Infection Completed NCT00606086 Phase 2 GI-5005;Pegylated Interferon and Ribavirin
19 A Pharmacokinetics/Pharmacodynamics Study of SCH 900518 in Previously Untreated Subjects With Genotype 1 Chronic Hepatitis C (Protocol No. P05104AM2)(COMPLETED) Completed NCT00797745 Phase 2 ribavirin;SCH 900518;ritonavir
20 A Phase 2b, Safety and Efficacy Study of Boceprevir in Patients Coinfected With HIV and Hepatitis C (P05411 AM4) Completed NCT00959699 Phase 2 PegIFN-2b;RBV;Placebo to Boceprevir;Boceprevir
21 Safety, Tolerability and Efficacy of 12-weeks of Sovaprevir, ACH-3102 and Ribavirin in Treatment-naive GT-1 HCV Subjects Completed NCT01849562 Phase 2 Sovaprevir;ACH-3102;RBV;Placebo
22 Simeprevir in Combination With Sofosbuvir in Treatment-Naïve or -Experienced Adults With Chronic Genotype 4 Hepatitis C Virus Infection Completed NCT02253550 Phase 2 Simeprevir;Sofosbuvir
23 Study to Assess Efficacy, Safety, Tolerability and Pharmacokinetics of Simeprevir, Daclatasvir and Sofosbuvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02349048 Phase 2 Simeprevir 150 mg;Daclatasvir 60 mg;Sofosbuvir 400 mg
24 Safety Study of Pegylated Interferon Lambda Plus Single or 2 Direct Antiviral Agents With Ribavirin Completed NCT01309932 Phase 2 BMS-790052 (NS5A Inhibitor);Ribavirin (RBV);BMS-650032 (NS3 Protease Inhibitor);Ribavirin (RBV);Ribavirin (RBV);BMS-790052 (NS5A Inhibitor);BMS-650032 (NS3 Protease Inhibitor);Placebo (PBO) for BMS-650032 (Placebo for NS3 Protease Inhibitor);Placebo (PBO) for BMS-790052 (Placebo for NS5A Inhibitor);Placebo for Ribavirin (RBV);Placebo for Ribavirin (RBV)
25 An Efficacy, Safety and Pharmacokinetics Study of Simeprevir, Daclatasvir and Sofosbuvir in Participants With Chronic Hepatitis C Virus Genotype 1 or 4 Infection and Decompensated Liver Disease Completed NCT02262728 Phase 2 Simeprevir;Daclatasvir;Sofosbuvir
26 A Study to Investigate the Pharmacokinetic Interactions Between Simeprevir and Ledipasvir in a Treatment Regimen Consisting of Simeprevir, Sofosbuvir, and Ledipasvir in Treatment-naive Participants With Chronic Hepatitis C Virus Genotype 1 Infection Completed NCT02421211 Phase 2 Simeprevir (SMV);Ledipasvir (LDV);Sofosbuvir (SOF)
27 A Study of Different Doses of Grazoprevir (MK-5172) Given With Pegylated Interferon Alfa-2b and Ribavirin to Treatment-Naïve Participants With Chronic Hepatitis C (MK-5172-038) Completed NCT01710501 Phase 2 Grazoprevir;Ribavirin;Placebo
28 Efficacy and Safety of Oral Regimens for the Treatment of Chronic HCV Infection Completed NCT02202980 Phase 2 LDV/SOF;RBV;SOF/VEL;VOX
29 A Randomized Study to Evaluate the Safety, Tolerability and Antiviral Activity of ABT-450, ABT-333 and ABT-072 Completed NCT01074008 Phase 2 ABT-450;ABT-072;ABT-333;Ritonavir;Peginterferon alpha-2a;Ribavirin
30 A Direct obserVed therApy vs fortNightly CollEction Study for HCV Treatment - ADVANCE HCV Study Recruiting NCT03236506 Phase 2 Zepatier Pill;Sofosbuvir Pill
31 Short Duration Therapy of Acute Hepatitis C Genotypes 1 or 4 Active, not recruiting NCT02886624 Phase 2 Grazoprevir/Elbasvir
32 Phase I-II Vaccination of Autologous Dendritic Cells Transduced With Adenoviral Vector Encoding NS3 in Hepatitis C Encoding NS3 in Hepatitis C Terminated NCT02309086 Phase 1, Phase 2
33 An Open-Label Study of the Effect of Telaprevir in Combination With Peginterferon Alfa-2b and Ribavirin in Pediatric Subjects Infected With Hepatitis C Virus Terminated NCT01701063 Phase 1, Phase 2 Telaprevir;Peginterferon alfa-2b;Ribavirin
34 An Open Label Study of the Effect of Telaprevir in Combination With Ribavirin and Peginterferon on HCV Infection in Stable Liver Transplant Patients Terminated NCT01467505 Phase 2 Telaprevir;Ribavirin;Pegylated Interferon Alfa-2a;Immunosuppressant Regimen
35 GS-5885, GS-9451 With Peginterferon Alfa 2a (PEG) and Ribavirin in Treatment-Naïve Subjects With Chronic Genotype 1 Hep C Virus Infection and IL28B CC Genotype Terminated NCT01384383 Phase 2 GS-5885;GS-9451;RBV;PEG
36 An Efficacy, Safety, Tolerability and Pharmacokinetics Study of 12 Weeks Treatment With Simeprevir and Daclatasvir in Participants With Chronic Hepatitis C Virus Genotype 1b or 4 Infection and Either Severe Renal Impairment or End-stage Renal Disease on Hemodialysis. Withdrawn NCT02397395 Phase 2 Simeprevir (SMV) 150 mg;Daclatasvir (DCV) 60 mg
37 Safety and Efficacy of the Therapeutic Vaccine GI-5005 Versus Placebo for the Treatment of Chronic Hepatitis C Infection Completed NCT00124215 Phase 1
38 A Study to Evaluate the Effect of ACH-3102 and Simeprevir on AL-335 Pharmacokinetics in Healthy Volunteers Completed NCT02512562 Phase 1 AL-335;ACH-3102;Simeprevir
39 Bioequivalence Study of Crushed Elbasvir/Grazoprevir Compared to the Whole Tablet Recruiting NCT03817619 Phase 1 Zepatier whole tablet;Zepatier crushed tablet
40 Evaluation of Safety, Tolerability, and Immunogenicity Study of GLS-6150 in Healthy Volunteers and in Persons Previously Treated for Hepatitis C Virus Infection Recruiting NCT03674125 Phase 1
41 A Drug Interaction Study of Boceprevir in Combination With Amlodipine or Diltiazem in Healthy Volunteers Withdrawn NCT01549496 Phase 1 Amlodipine;Diltiazem
42 TG4040 in Patients With Chronic HCV Withdrawn NCT00449124 Phase 1 Placebo
43 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
44 An Observational/Non-interventional, Study of NS3/4a Protease and NS5A Protein of Hepatitis C Virus in Brazilian Participants With Chronic HCV Infection Completed NCT02597270
45 Evaluating the Role of Immune Responses in the Emergence of Protease Inhibitor Mutations Completed NCT01517529
46 Effect of Teleprevir in Triple Therapy on Intrahepatic Immunological Mechanisms Completed NCT01641094
47 Study the Usefulness of Bio-impedance Spectroscopy in the Early Assessment of Breast Cancer Related Lymphoedema Completed NCT01599039
48 Study of Human Epidermal Growth Receptor (HER2) Status Evaluation in Breast Cancer Pathology Samples Completed NCT02580799
49 Eliminating Hepatitis C Transmission by Enhancing Care and Treatment Among HIV Co-infected Individuals Recruiting NCT02786758
50 The Durability of Response and Persistence of Resistance to AbbVie's 2 Direct-acting Antiviral Agent (2D) Therapy in Japanese Subjects Active, not recruiting NCT02581020

Search 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 30 KRAS

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

42
T Cells, Skin, B Cells, Bone, Testes, Eye, Prostate

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show top 50) (show all 1559)
# Title Authors Year
1
Cysteine Disulfide Traps Reveal Distinct Conformational Ensembles in Dengue Virus NS2B-NS3 Protease. ( 30472839 )
2019
2
Pre-treatment antiviral resistance in Australians with chronic hepatitis C: prevalence of NS3 and NS5A resistance data in the state of New South Wales. ( 31085813 )
2019
3
Hepatitis C virus core or NS3/4A protein expression preconditions hepatocytes against oxidative stress and endoplasmic reticulum stress. ( 30909829 )
2019
4
IgG1 and IgG4 antibodies against Core and NS3 antigens of hepatitis C virus. ( 30843970 )
2019
5
Resistance outside the substrate envelope: hepatitis C NS3/4A protease inhibitors. ( 30821513 )
2019
6
Impact of Preexisting Hepatitis C Virus Genotype 6 NS3, NS5A, and NS5B Polymorphisms on the In Vitro Potency of Direct-Acting Antiviral Agents. ( 30718256 )
2019
7
In Vitro Susceptibility of Hepatitis C Virus Genotype 1 through 6 Clinical Isolates to the Pangenotypic NS3/4A Inhibitor Voxilaprevir. ( 30728196 )
2019
8
Combinations of two drugs among NS3/4A inhibitors, NS5B inhibitors and non-selective antiviral agents are effective for hepatitis C virus with NS5A-P32 deletion in humanized-liver mice. ( 30684016 )
2019
9
N-Naphthoyl-substituted indole thio-barbituric acid analogs inhibit the helicase activity of the hepatitis C virus NS3. ( 30578035 )
2019
10
Phosphonate inhibitors of West Nile virus NS2B/NS3 protease. ( 30362835 )
2019
11
Exploring the Lead Compounds for Zika Virus NS2B-NS3 Protein: an e-Pharmacophore-Based Approach. ( 29911269 )
2019
12
Truncated Core/NS3 Fusion Protein of HCV Adjuvanted with Outer Membrane Vesicles of Neisseria meningitidis Serogroup B: Potent Inducer of the Murine Immune System ( 30278608 )
2019
13
Analysis of cellular proteome changes in response to ZIKV NS2B-NS3 protease expression. ( 30391636 )
2019
14
HCV genotype 1-6 NS3 residue 80 substitutions impact protease inhibitor activity and promote viral escape. ( 30395912 )
2019
15
A comparative study of the efficiency of HCV NS3/4A protease drugs against different HCV genotypes using in silico approaches. ( 30528183 )
2019
16
Crystallographic snapshots of the Zika virus NS3 helicase help visualize the reactant water replenishment. ( 30672289 )
2019
17
Thioguanine-based DENV-2 NS2B/NS3 protease inhibitors: Virtual screening, synthesis, biological evaluation and molecular modelling. ( 30677071 )
2019
18
Recombinant HCV NS3 and NS5B enzymes exhibit multiple posttranslational modifications for potential regulation. ( 30694421 )
2019
19
De Novo Discovery of Nonstandard Macrocyclic Peptides as Noncompetitive Inhibitors of the Zika Virus NS2B-NS3 Protease. ( 30783498 )
2019
20
Quantum Mechanics/Molecular Mechanics (QM/MM) Calculations Support a Concerted Reaction Mechanism for the Zika Virus NS2B/NS3 Serine Protease with Its Substrate. ( 30845796 )
2019
21
Targeted mutational analysis to unravel the complexity of African horse sickness virus NS3 function in mammalian cells. ( 30878525 )
2019
22
Prevalence of baseline NS3 resistance-associated substitutions (RASs) on treatment with protease inhibitors in patients infected with HCV genotype 1. ( 30880098 )
2019
23
Low susceptibility of asunaprevir towards R155K and D168A point mutations in HCV NS3/4A protease: A molecular dynamics simulation. ( 30884449 )
2019
24
Discovery, X-ray Crystallography and Antiviral Activity of Allosteric Inhibitors of Flavivirus NS2B-NS3 Protease. ( 31017399 )
2019
25
Near Neighbor Interactions in the NS3-4A Protease of HCV Impact Replicative Fitness of Drug-Resistant Viral Variants. ( 31051172 )
2019
26
Computational insight into dengue virus NS2B-NS3 protease inhibition: A combined ligand- and structure-based approach. ( 30393100 )
2018
27
Cloning and Expression of NS3 Gene of Pakistani Isolate Type 2 Dengue Virus. ( 29978123 )
2018
28
Allostery in the dengue virus NS3 helicase: Insights into the NTPase cycle from molecular simulations. ( 29659571 )
2018
29
Sustained Specific and Cross-Reactive T Cell Responses to Zika and Dengue Virus NS3 in West Africa. ( 29321308 )
2018
30
Erratum for Panayiotou et al., "Viperin Restricts Zika Virus and Tick-Borne Encephalitis Virus Replication by Targeting NS3 for Proteasomal Degradation". ( 29844247 )
2018
31
Viperin Restricts Zika Virus and Tick-Borne Encephalitis Virus Replication by Targeting NS3 for Proteasomal Degradation. ( 29321318 )
2018
32
Functional and physical interaction between the Arf activator GBF1 and hepatitis C virus NS3 protein. ( 30567983 )
2018
33
Identification of novel small molecule inhibitors against the NS3/4A protease of hepatitis C virus genotype 4a. ( 30501598 )
2018
34
Evaluating the inhibitory effect of eight compounds from Daphne papyracea against the NS3/4A protease of hepatitis C virus. ( 30449158 )
2018
35
Synthesis of Grazoprevir, a Potent NS3/4a Protease Inhibitor for the Treatment of Hepatitis C Virus. ( 30388018 )
2018
36
Hepatitis C Genotype 4 Virus NS3 and NS5A resistance Associated Substitutions in a 16 Year-Old Adolescent Failing Ombitasvir/Paritaprevir/Ritonavir Plus Ribavirin. ( 30204659 )
2018
37
NS3 Variability in Hepatitis C Virus Genotype 1A Isolates from Liver Tissue and Serum Samples of Treatment-Naïve Patients with Chronic Hepatitis C. ( 30021203 )
2018
38
GP205, a new hepatitis C virus NS3/4A protease inhibitor, displays higher metabolic stability in vitro and drug exposure in vivo. ( 29930277 )
2018
39
Prevalence of naturally occurring amino acid substitutions associated with resistance to hepatitis C virus NS3/NS4A protease inhibitors in São Paulo state. ( 29961118 )
2018
40
Prevalence of Single and Multiple Natural NS3, NS5A and NS5B Resistance-Associated Substitutions in Hepatitis C Virus Genotypes 1-4 in Italy. ( 29895871 )
2018
41
NAP1L1 Regulates Hepatitis C Virus Entry and Interacts with NS3. ( 29541944 )
2018
42
Potent Inhibitors of Hepatitis C Virus NS3 Protease: Employment of a Difluoromethyl Group as a Hydrogen-Bond Donor. ( 29456803 )
2018
43
Pan-NS3 protease inhibitors of hepatitis C virus based on an R3-elongated pyrazinone scaffold. ( 29477077 )
2018
44
Efficacy, safety and patient-reported outcomes of ledipasvir/sofosbuvir in NS3/4A protease inhibitor-experienced individuals with hepatitis C virus genotype 1 and HIV coinfection with and without cirrhosis (ANRS HC31 SOFTRIH study). ( 29214737 )
2018
45
NS3 from Hepatitis C Virus Strain JFH-1 Is an Unusually Robust Helicase That Is Primed To Bind and Unwind Viral RNA. ( 29070684 )
2018
46
Retreatment With Sofosbuvir Plus Grazoprevir/Elbasvir Plus Ribavirin of Patients With Hepatitis C Virus Genotype 1 or 4 Who Previously Failed an NS5A- or NS3-Containing Regimen: The ANRS HC34 REVENGE Study. ( 29077864 )
2018
47
In Vitro Antiviral Activity and Resistance Profile of the Next-Generation Hepatitis C Virus NS3/4A Protease Inhibitor Glecaprevir. ( 29084747 )
2018
48
Identification of a 3-Alkylpyridinium Compound from the Red Sea Sponge Amphimedon chloros with In Vitro Inhibitory Activity against the West Nile Virus NS3 Protease. ( 29912151 )
2018
49
Breathing new life into West Nile virus therapeutics; discovery and study of zafirlukast as an NS2B-NS3 protease inhibitor. ( 30193218 )
2018
50
Broad-spectrum catalytic metallopeptide inactivators of Zika and West Nile virus NS2B/NS3 proteases. ( 30324214 )
2018

Variations for Noonan Syndrome 3

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

76
# 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

ClinVar genetic disease variations for Noonan Syndrome 3:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID Assembly Location
1 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh37 Chromosome 10, 112724120: 112724120
2 SHOC2 NM_007373.3(SHOC2): c.4A> G (p.Ser2Gly) single nucleotide variant Pathogenic rs267607048 GRCh38 Chromosome 10, 110964362: 110964362
3 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh37 Chromosome 12, 25362838: 25362838
4 KRAS NM_004985.4(KRAS): c.458A> T (p.Asp153Val) single nucleotide variant Pathogenic rs104894360 GRCh38 Chromosome 12, 25209904: 25209904
5 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh37 Chromosome 12, 25380285: 25380285
6 KRAS NM_004985.4(KRAS): c.173C> T (p.Thr58Ile) single nucleotide variant Pathogenic rs104894364 GRCh38 Chromosome 12, 25227351: 25227351
7 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh37 Chromosome 12, 25398279: 25398279
8 KRAS NM_004985.4(KRAS): c.40G> A (p.Val14Ile) single nucleotide variant Pathogenic rs104894365 GRCh38 Chromosome 12, 25245345: 25245345
9 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh37 Chromosome 12, 25362841: 25362841
10 KRAS NM_004985.4(KRAS): c.455T> G (p.Val152Gly) single nucleotide variant Pathogenic rs104894367 GRCh38 Chromosome 12, 25209907: 25209907
11 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh37 Chromosome 12, 25398306: 25398306
12 KRAS NM_033360.3(KRAS): c.13A> G (p.Lys5Glu) single nucleotide variant Likely pathogenic rs193929331 GRCh38 Chromosome 12, 25245372: 25245372
13 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh37 Chromosome 12, 25380280: 25380280
14 KRAS NM_004985.4(KRAS): c.178G> A (p.Gly60Ser) single nucleotide variant Pathogenic rs104894359 GRCh38 Chromosome 12, 25227346: 25227346
15 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh37 Chromosome 11, 533875: 533875
16 HRAS NM_005343.3(HRAS): c.181C> A (p.Gln61Lys) single nucleotide variant Pathogenic/Likely pathogenic rs28933406 GRCh38 Chromosome 11, 533875: 533875
17 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh37 Chromosome 12, 112888199: 112888199
18 PTPN11 NM_002834.4(PTPN11): c.215C> G (p.Ala72Gly) single nucleotide variant Pathogenic rs121918454 GRCh38 Chromosome 12, 112450395: 112450395
19 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh37 Chromosome 12, 112915524: 112915524
20 PTPN11 NM_002834.4(PTPN11): c.923A> G (p.Asn308Ser) single nucleotide variant Pathogenic rs121918455 GRCh38 Chromosome 12, 112477720: 112477720
21 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh37 Chromosome 12, 112888172: 112888172
22 PTPN11 NM_002834.4(PTPN11): c.188A> G (p.Tyr63Cys) single nucleotide variant Pathogenic rs121918459 GRCh38 Chromosome 12, 112450368: 112450368
23 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh37 Chromosome 12, 112888220: 112888220
24 PTPN11 NM_002834.4(PTPN11): c.236A> G (p.Gln79Arg) single nucleotide variant Pathogenic rs121918466 GRCh38 Chromosome 12, 112450416: 112450416
25 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh37 Chromosome 12, 112926248: 112926248
26 PTPN11 NM_002834.4(PTPN11): c.1381G> A (p.Ala461Thr) single nucleotide variant Pathogenic rs121918468 GRCh38 Chromosome 12, 112488444: 112488444
27 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh37 Chromosome 12, 112926909: 112926909
28 PTPN11 NM_002834.4(PTPN11): c.1529A> C (p.Gln510Pro) single nucleotide variant Pathogenic rs121918470 GRCh38 Chromosome 12, 112489105: 112489105
29 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh37 Chromosome 12, 25398254: 25398254
30 KRAS NM_004985.4(KRAS): c.65A> G (p.Gln22Arg) single nucleotide variant Pathogenic rs727503110 GRCh38 Chromosome 12, 25245320: 25245320
31 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh37 Chromosome 12, 112888158: 112888158
32 PTPN11 NM_002834.4(PTPN11): c.174C> A (p.Asn58Lys) single nucleotide variant Pathogenic rs397507506 GRCh38 Chromosome 12, 112450354: 112450354
33 PTPN11 NM_002834.4(PTPN11): c.181G> C (p.Asp61His) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
34 PTPN11 NM_002834.4(PTPN11): c.181G> C (p.Asp61His) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
35 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh37 Chromosome 12, 112888165: 112888165
36 PTPN11 NM_002834.4(PTPN11): c.181G> A (p.Asp61Asn) single nucleotide variant Pathogenic rs397507510 GRCh38 Chromosome 12, 112450361: 112450361
37 PTPN11 NM_002834.4(PTPN11): c.211T> C (p.Phe71Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507512 GRCh37 Chromosome 12, 112888195: 112888195
38 PTPN11 NM_002834.4(PTPN11): c.211T> C (p.Phe71Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507512 GRCh38 Chromosome 12, 112450391: 112450391
39 PTPN11 NM_002834.4(PTPN11): c.214G> C (p.Ala72Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh37 Chromosome 12, 112888198: 112888198
40 PTPN11 NM_002834.4(PTPN11): c.214G> C (p.Ala72Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121918453 GRCh38 Chromosome 12, 112450394: 112450394
41 PTPN11 NM_002834.4(PTPN11): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507518 GRCh37 Chromosome 12, 112888312: 112888312
42 PTPN11 NM_002834.4(PTPN11): c.328G> A (p.Glu110Lys) single nucleotide variant Pathogenic/Likely pathogenic rs397507518 GRCh38 Chromosome 12, 112450508: 112450508
43 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh37 Chromosome 12, 112891083: 112891083
44 PTPN11 NM_002834.4(PTPN11): c.417G> C (p.Glu139Asp) single nucleotide variant Pathogenic rs397507520 GRCh38 Chromosome 12, 112453279: 112453279
45 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh37 Chromosome 12, 112910844: 112910844
46 PTPN11 NM_002834.4(PTPN11): c.853T> C (p.Phe285Leu) single nucleotide variant Pathogenic/Likely pathogenic rs397507531 GRCh38 Chromosome 12, 112473040: 112473040
47 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh37 Chromosome 12, 112926908: 112926908
48 PTPN11 NM_002834.4(PTPN11): c.1528C> G (p.Gln510Glu) single nucleotide variant Pathogenic rs397507549 GRCh38 Chromosome 12, 112489104: 112489104
49 SOS1 NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys) single nucleotide variant Pathogenic rs397517154 GRCh37 Chromosome 2, 39249914: 39249914
50 SOS1 NM_005633.3(SOS1): c.1655G> A (p.Arg552Lys) single nucleotide variant Pathogenic rs397517154 GRCh38 Chromosome 2, 39022773: 39022773

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 93)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.09 CD81 DDX58 HRAS IFNA1 IFNB1 IFNL3
2
Show member pathways
13.35 HRAS IFNA1 IFNB1 IRF3 KRAS PTPN11
3
Show member pathways
13.27 DDX58 HRAS IFNA1 IFNB1 IFNL3 IRF3
4
Show member pathways
12.97 HRAS IFNA1 IFNB1 IRF3 KRAS RAF1
5
Show member pathways
12.94 HRAS KRAS PTPN11 RAF1 SOS1
6
Show member pathways
12.9 HRAS KRAS PTPN11 RAF1 SOS1
7 12.88 HRAS IFNA1 KRAS RAF1 SOS1
8
Show member pathways
12.82 HRAS KRAS PTPN11 RAF1 SOS1
9
Show member pathways
12.78 DDX58 IFNA1 IFNB1 IFNL3 IRF3 MAVS
10
Show member pathways
12.77 HRAS KRAS PTPN11 RAF1 SOS1
11
Show member pathways
12.77 DDX58 HRAS IFNA1 IFNB1 IRF3 KRAS
12
Show member pathways
12.74 HRAS KRAS PTPN11 RAF1 SHOC2 SOS1
13
Show member pathways
12.63 HRAS KRAS PTPN11 RAF1 SOS1
14
Show member pathways
12.59 HRAS KRAS PTPN11 RAF1 SOS1
15
Show member pathways
12.58 DDX58 IFNA1 IFNB1 IRF3 PTPN11
16
Show member pathways
12.58 CD81 HRAS KRAS PTPN11 RAF1 SOS1
17
Show member pathways
12.55 HRAS PTPN11 RAF1 SOS1
18 12.54 HRAS KRAS RAF1 SOS1
19
Show member pathways
12.53 HRAS KRAS RAF1 SOS1
20
Show member pathways
12.53 HRAS KRAS PTPN11 RAF1 SOS1
21
Show member pathways
12.51 HRAS KRAS PTPN11 SOS1
22
Show member pathways
12.48 HRAS KRAS PTPN11 RAF1 SOS1
23
Show member pathways
12.46 HRAS IRF3 KRAS RAF1 SOS1
24
Show member pathways
12.44 HRAS PTPN11 RAF1 SOS1
25
Show member pathways
12.43 HRAS KRAS PTPN11 RAF1 SOS1
26
Show member pathways
12.42 HRAS KRAS PTPN11 RAF1 SOS1
27
Show member pathways
12.38 HRAS KRAS RAF1 SOS1
28
Show member pathways
12.37 HRAS KRAS PTPN11 RAF1
29
Show member pathways
12.35 HRAS IRF3 PTPN11 RAF1 SOS1
30
Show member pathways
12.34 CD81 HRAS KRAS PTPN11 RAF1 SOS1
31
Show member pathways
12.32 HRAS KRAS PTPN11 SOS1
32
Show member pathways
12.31 IFNA1 IFNB1 IRF3 KRAS PTPN11
33 12.29 HRAS KRAS PTPN11 RAF1
34
Show member pathways
12.28 HRAS KRAS PTPN11 SOS1
35
Show member pathways
12.28 HRAS KRAS RAF1 SOS1
36 12.28 HRAS KRAS PTPN11 RAF1 SOS1
37
Show member pathways
12.28 HRAS IFNA1 IFNB1 KRAS PTPN11 RAF1
38
Show member pathways
12.26 HRAS KRAS PTPN11 RAF1
39
Show member pathways
12.26 HRAS KRAS PTPN11 RAF1 SOS1
40
Show member pathways
12.25 HRAS KRAS RAF1 SOS1
41
Show member pathways
12.23 HRAS PTPN11 RAF1 SOS1
42
Show member pathways
12.19 HRAS KRAS RAF1 SOS1
43 12.17 HRAS KRAS PTPN11 RAF1 SOS1
44
Show member pathways
12.14 HRAS KRAS RAF1 SOS1
45
Show member pathways
12.12 HRAS KRAS PTPN11 RAF1 SOS1
46
Show member pathways
12.06 HRAS KRAS PTPN11 RAF1 SOS1
47
Show member pathways
12.01 HRAS PTPN11 RAF1 SOS1
48 12.01 HRAS KRAS RAF1 SOS1
49
Show member pathways
11.98 HRAS KRAS SOS1
50 11.97 HRAS IFNB1 RAF1

GO Terms for Noonan Syndrome 3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.86 HRAS KRAS MAVS RAF1
2 MAPK cascade GO:0000165 9.85 HRAS KRAS RAF1 RIT2 SOS1
3 cytokine-mediated signaling pathway GO:0019221 9.8 IFNA1 IFNB1 IFNL3 KRAS PTPN11 SOS1
4 small GTPase mediated signal transduction GO:0007264 9.79 HRAS RIT2 SOS1
5 type I interferon signaling pathway GO:0060337 9.76 IFNA1 IFNB1 IRF3
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.75 HRAS KRAS RAF1
7 negative regulation of viral genome replication GO:0045071 9.69 IFNB1 IFNL3 MAVS
8 negative regulation of type I interferon production GO:0032480 9.67 DDX58 IRF3 MAVS
9 positive regulation of tumor necrosis factor secretion GO:1904469 9.61 DDX58 MAVS
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.61 PTPN11 RAF1 SOS1
11 positive regulation of interferon-alpha secretion GO:1902741 9.59 DDX58 MAVS
12 cellular response to exogenous dsRNA GO:0071360 9.58 DDX58 IFNB1 MAVS
13 response to isolation stress GO:0035900 9.57 HRAS KRAS
14 positive regulation of myeloid dendritic cell cytokine production GO:0002735 9.55 DDX58 MAVS
15 positive regulation of response to cytokine stimulus GO:0060760 9.54 DDX58 MAVS
16 positive regulation of interferon-alpha production GO:0032727 9.54 DDX58 IRF3 MAVS
17 positive regulation of interferon-beta secretion GO:0035549 9.52 DDX58 MAVS
18 positive regulation of interferon-beta production GO:0032728 9.46 DDX58 IRF3 MAVS PTPN11
19 response to exogenous dsRNA GO:0043330 9.43 DDX58 IFNA1 IFNB1
20 defense response to virus GO:0051607 9.43 DDX58 IFNA1 IFNB1 IFNL3 IRF3 MAVS
21 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.3 MAVS
22 Ras protein signal transduction GO:0007265 9.02 HRAS KRAS RIT2 SHOC2 SOS1
23 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 CD81 DDX58 HRAS IFNB1 IRF3 MAVS

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

# Name GO ID Score Top Affiliating Genes
1 GTPase activity GO:0003924 9.26 HRAS KRAS LSG1 RIT2
2 type I interferon receptor binding GO:0005132 8.62 IFNA1 IFNB1

Sources for Noonan Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....