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NS3
MCID: NNN010
MIFTS: 59

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
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Noonan Syndrome 3

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MalaCards integrated aliases for Noonan Syndrome 3:

Name: Noonan Syndrome 3 57 12 53 75 29 13 6 15 73
Ns3 57 12 53 75 15
Kras Gene Related Noonan Syndrome 53
Noonan Syndrome, Type 3 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features present


HPO:

32
noonan syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Eye diseases Neuronal diseases Skin diseases Reproductive diseases Nephrological diseases Cardiovascular diseases Endocrine diseases Ear diseases
See all MalaCards categories (disease lists)
ICD10: 33


Sources

Summaries for Noonan Syndrome 3

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UniProtKB/Swiss-Prot : 75 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 and hepatitis c virus. 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 skin, heart and t cells, and related phenotypes are macrocephaly and hypertelorism

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

OMIM : 57 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)

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Related Diseases for Noonan Syndrome 3

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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 61)
# Related Disease Score Top Affiliating Genes
1 hepatitis 32.1 CD81 DDX58 IFNA1 IRF3 MAVS
2 hepatitis c virus 32.0 CD81 DDX58 IFNL3 IRF3 PPIA
3 hepatitis c 32.0 CD81 DDX58 IFNA1 IFNB1 IRF3 MAVS
4 noonan syndrome 5 31.2 RAF1 RIT2 SENP8
5 west nile virus 31.1 DDX58 IFNA1 IRF3
6 noonan syndrome 2 30.8 CD81 DDX58 IRF3 MAVS MIR7-3HG
7 viral infectious disease 30.6 CD81 DDX58 IFNA1 IFNB1 IRF3 MAVS
8 dengue virus 10.7
9 encephalitis 10.5
10 japanese encephalitis 10.4
11 sigmoid neoplasm 10.4 HRAS KRAS
12 apocrine adenoma 10.3 HRAS KRAS
13 oral erosive lichen 10.3 IFNA1 IFNB1
14 leopard syndrome 10.3 HRAS PTPN11 RAF1
15 prostate adenoid cystic carcinoma 10.3 HRAS LRRC56
16 lung benign neoplasm 10.3 HRAS KRAS RAF1
17 periampullary adenoma 10.3 HRAS KRAS
18 paronychia 10.3 HRAS KRAS
19 costello syndrome 10.3 HRAS KRAS PTPN11 SOS1
20 diarrhea 10.3
21 leukemia, chronic lymphocytic 2 10.3 HRAS KRAS PTPN11
22 exanthem 10.3 HRAS KRAS SENP8
23 la crosse encephalitis 10.3 DDX58 IFNB1 IRF3
24 villonodular synovitis 10.3 PTPN11 SOS1
25 schimmelpenning-feuerstein-mims syndrome 10.3 HRAS KRAS
26 cryptorchidism, unilateral or bilateral 10.3 PTPN11 SHOC2 SOS1
27 juvenile myelomonocytic leukemia 10.3 KRAS PTPN11 RAF1 SOS1
28 hypertrophic cardiomyopathy 10.3 KRAS PTPN11 RAF1 SOS1
29 cardiofaciocutaneous syndrome 1 10.3 HRAS KRAS PTPN11 SHOC2 SOS1
30 severe acute respiratory syndrome 10.3 IFNA1 IFNB1 IRF3
31 gastrointestinal system cancer 10.3 HRAS KRAS MIR7-3HG
32 gastrointestinal system disease 10.3 HRAS IFNA1 KRAS MIR7-3HG
33 med23 10.3 IFNL3 KRAS
34 myeloma, multiple 10.3 HRAS IFNA1 KRAS PTPN11
35 spitz nevus 10.3 HRAS LRRC56
36 newcastle disease 10.3 DDX58 IFNA1 IFNB1 IRF3
37 hepatocellular carcinoma 10.3
38 tick-borne encephalitis 10.3
39 bile duct cysts 10.3 HRAS KRAS
40 large intestine cancer 10.3 HRAS IFNA1 KRAS PTPN11 RAF1
41 pulmonic stenosis 10.3 HRAS KRAS LRRC56 PTPN11 RAF1 SOS1
42 endocrine gland cancer 10.2 HRAS KRAS MIR7-3HG
43 herpes simplex 10.2 DDX58 IFNA1 IFNB1 IRF3
44 influenza 10.2 DDX58 IFNA1 IFNB1 IRF3
45 spindle cell hemangioma 10.2
46 lentigines 10.2 PTPN11 RAF1
47 yellow fever 10.2
48 measles 10.2 DDX58 IFNA1 IFNB1
49 aggressive digital papillary adenocarcinoma 10.1 HRAS KRAS
50 liver cirrhosis 10.1

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



Diseases related to Noonan Syndrome 3
Sources

Symptoms & Phenotypes for Noonan Syndrome 3

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Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Noonan Syndrome 3:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 frontal bossing 32 HP:0002007
5 global developmental delay 32 HP:0001263
6 short nose 32 HP:0003196
7 anteverted nares 32 HP:0000463
8 short stature 32 HP:0004322
9 hypertrophic cardiomyopathy 32 HP:0001639
10 patent ductus arteriosus 32 HP:0001643
11 epicanthus 32 HP:0000286
12 webbed neck 32 HP:0000465
13 cystic hygroma 32 very rare (1%) HP:0000476
14 atrial septal defect 32 HP:0001631
15 mitral valve prolapse 32 HP:0001634
16 downslanted palpebral fissures 32 HP:0000494
17 ventricular septal defect 32 HP:0001629
18 pulmonic stenosis 32 HP:0001642
19 posteriorly rotated ears 32 HP:0000358
20 sagittal craniosynostosis 32 HP:0004442
21 hypoplastic nasal bridge 32 HP:0005281
22 scaphocephaly 32 HP:0030799
23 juvenile myelomonocytic leukemia 32 HP:0012209
24 atrial septal dilatation 32 HP:0011995

MGI Mouse Phenotypes related to Noonan Syndrome 3:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 CD81 DDX58 HRAS IFNB1 IRF3 KRAS
2 hematopoietic system MP:0005397 10.02 CD81 DDX58 IFNB1 IFNL3 KRAS MAVS
3 digestive/alimentary MP:0005381 9.91 DDX58 HRAS KRAS MAVS NRBP1 PTPN11
4 immune system MP:0005387 9.9 CD81 DDX58 IFNB1 IFNL3 IRF3 KRAS
5 neoplasm MP:0002006 9.5 DDX58 HRAS IFNB1 KRAS NRBP1 PTPN11
6 respiratory system MP:0005388 9.17 CD81 HRAS KRAS MAVS PTPN11 RAF1
Sources

Drugs & Therapeutics for Noonan Syndrome 3

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

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4,Phase 2,Phase 3,Phase 1 36791-04-5 37542
2
Sofosbuvir Approved Phase 4,Phase 3,Phase 2 1190307-88-0 45375808
3
Peginterferon alfa-2a Approved, Investigational Phase 4,Phase 3,Phase 2 198153-51-4 5360545
4 Interferon-alpha Phase 4,Phase 2,Phase 3,Phase 1
5 interferons Phase 4,Phase 2,Phase 3,Phase 1
6 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Sofosbuvir-velpatasvir drug combination Phase 4
8 Liver Extracts Phase 4,Phase 3,Phase 2
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antimetabolites Phase 4,Phase 2,Phase 3,Phase 1
11 Elbasvir-grazoprevir drug combination Phase 4,Phase 3,Phase 2
12 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
14 Iron-Dextran Complex Phase 4
15 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
16
Ritonavir Approved, Investigational Phase 3,Phase 2 155213-67-5 392622
17
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
18
Peginterferon alfa-2b Approved Phase 2, Phase 3,Phase 1 99210-65-8, 215647-85-1
19
Efavirenz Approved, Investigational Phase 3 154598-52-4 64139
20
Ledipasvir Approved Phase 3,Phase 2 1256388-51-8 67505836
21
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
22
Tenofovir Experimental, Investigational Phase 2, Phase 3 147127-20-6 464205
23 Anti-Retroviral Agents Phase 3,Phase 2
24 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
25 Anti-HIV Agents Phase 3,Phase 2
26 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2
27 Atazanavir Sulfate Phase 3
28 Raltegravir Potassium Phase 3
29 Ledipasvir, sofosbuvir drug combination Phase 3,Phase 2
30 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
31 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
32 Reverse Transcriptase Inhibitors Phase 2, Phase 3
33 Antibodies Phase 2, Phase 3
34 Immunoglobulins Phase 2, Phase 3
35
Triamcinolone Approved, Vet_approved Phase 2 124-94-7 31307
36
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
37
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
38 tannic acid Approved Phase 2
39
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
40 Pharmaceutical Solutions Phase 2,Phase 1
41 Vaccines Phase 2,Phase 1
42 Brewer's Yeast Phase 2,Phase 1
43 triamcinolone acetonide Phase 2
44 Triamcinolone hexacetonide Phase 2
45 Calcineurin Inhibitors Phase 2
46 Triamcinolone diacetate Phase 2
47 Cyclosporins Phase 2
48 Antifungal Agents Phase 2
49 Dermatologic Agents Phase 2
50 Antirheumatic 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 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
4 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]
5 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
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 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
10 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
11 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)
12 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
13 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
14 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
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 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
17 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
18 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
19 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
20 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
21 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
22 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
23 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
24 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
25 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)
26 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
27 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
28 A Direct obserVed therApy vs fortNightly CollEction Study for HCV Treatment - ADVANCE HCV Study Recruiting NCT03236506 Phase 2 Zepatier Pill;Sofosbuvir Pill
29 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
30 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
31 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)
32 Short Duration Therapy of Acute Hepatitis C Genotypes 1 or 4 Active, not recruiting NCT02886624 Phase 2 Grazoprevir/Elbasvir
33 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
34 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
35 Efficacy and Safety of Oral Regimens for the Treatment of Chronic HCV Infection Completed NCT02202980 Phase 2 LDV/SOF;RBV;SOF/VEL;VOX
36 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
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 Drug Interaction Study of Boceprevir in Combination With Amlodipine or Diltiazem in Healthy Volunteers Withdrawn NCT01549496 Phase 1 Amlodipine;Diltiazem
39 Bioequivalence Study of Crushed Elbasvir/Grazoprevir Compared to the Whole Tablet Not yet 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 TG4040 in Patients With Chronic HCV Withdrawn NCT00449124 Phase 1 Placebo
42 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
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 Eliminating Hepatitis C Transmission by Enhancing Care and Treatment Among HIV Co-infected Individuals Recruiting NCT02786758
49 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
50 Study of Human Epidermal Growth Receptor (HER2) Status Evaluation in Breast Cancer Pathology Samples Completed NCT02580799

Search NIH Clinical Center for Noonan Syndrome 3

Sources

Genetic Tests for Noonan Syndrome 3

About this section

Genetic tests related to Noonan Syndrome 3:

# Genetic test Affiliating Genes
1 Noonan Syndrome 3 29 KRAS
Sources

Anatomical Context for Noonan Syndrome 3

About this section

MalaCards organs/tissues related to Noonan Syndrome 3:

41
Skin, Heart, T Cells, Liver, Bone, Eye, Lung
Sources

Publications for Noonan Syndrome 3

About this section

Articles related to Noonan Syndrome 3:

(show top 50) (show all 824)
# Title Authors Year
1
Phosphonate inhibitors of West Nile virus NS2B/NS3 protease. ( 30362835 )
2019
2
Computational insight into dengue virus NS2B-NS3 protease inhibition: A combined ligand- and structure-based approach. ( 30393100 )
2018
3
Cysteine Disulfide Traps Reveal Distinct Conformational Ensembles in Dengue Virus NS2B-NS3 Protease. ( 30472839 )
2018
4
Sustained Specific and Cross-Reactive T Cell Responses to Zika and Dengue Virus NS3 in West Africa. ( 29321308 )
2018
5
Allostery in the dengue virus NS3 helicase: Insights into the NTPase cycle from molecular simulations. ( 29659571 )
2018
6
Identification of novel small molecule inhibitors against the NS3/4A protease of hepatitis C virus genotype 4a. ( 30501598 )
2018
7
Evaluating the inhibitory effect of eight compounds from Daphne papyracea against the NS3/4A protease of hepatitis C virus. ( 30449158 )
2018
8
Synthesis of Grazoprevir, a Potent NS3/4a Protease Inhibitor for the Treatment of Hepatitis C Virus. ( 30388018 )
2018
9
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
10
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
11
Prevalence of Single and Multiple Natural NS3, NS5A and NS5B Resistance-Associated Substitutions in Hepatitis C Virus Genotypes 1-4 in Italy. ( 29895871 )
2018
12
GP205, a new hepatitis C virus NS3/4A protease inhibitor, displays higher metabolic stability in vitro and drug exposure in vivo. ( 29930277 )
2018
13
NAP1L1 Regulates Hepatitis C Virus Entry and Interacts with NS3. ( 29541944 )
2018
14
Potent Inhibitors of Hepatitis C Virus NS3 Protease: Employment of a Difluoromethyl Group as a Hydrogen-Bond Donor. ( 29456803 )
2018
15
Pan-NS3 protease inhibitors of hepatitis C virus based on an R3-elongated pyrazinone scaffold. ( 29477077 )
2018
16
Breathing new life into West Nile virus therapeutics; discovery and study of zafirlukast as an NS2B-NS3 protease inhibitor. ( 30193218 )
2018
17
Broad-spectrum catalytic metallopeptide inactivators of Zika and West Nile virus NS2B/NS3 proteases. ( 30324214 )
2018
18
Identification of potential inhibitors for HCV NS3 genotype 4a by combining protein-ligand interaction fingerprint, 3D pharmacophore, docking, and dynamic simulation. ( 28531373 )
2018
19
Pooled analysis of HCV genotype 1 resistance-associated substitutions in NS5A, NS3 and NS5B pre-and post-treatment with 12 weeks of daclatasvir, asunaprevir and beclabuvir. ( 28594332 )
2018
20
Protein backbone flexibility pattern is evolutionarily conserved in the Flaviviridae family: A case of NS3 protease in Flavivirus and Hepacivirus. ( 28951254 )
2018
21
Characterization of HCV resistance from a 3-day monotherapy study of voxilaprevir, a novel pangenotypic NS3/4A protease inhibitor. ( 29063860 )
2018
22
NS3 from Hepatitis C Virus Strain JFH-1 Is an Unusually Robust Helicase That Is Primed To Bind and Unwind Viral RNA. ( 29070684 )
2018
23
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
24
In Vitro Antiviral Activity and Resistance Profile of the Next-Generation Hepatitis C Virus NS3/4A Protease Inhibitor Glecaprevir. ( 29084747 )
2018
25
The discovery and optimization of naphthalene-linked P2-P4 Macrocycles as inhibitors of HCV NS3 protease. ( 29162454 )
2018
26
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
27
Analysis of Naturally Occurring Resistance-Associated Variants to NS3/4A Protein Inhibitors, NS5A Protein Inhibitors, and NS5B Polymerase Inhibitors in Patients With Chronic Hepatitis C. ( 29221500 )
2018
28
Human Norovirus NS3 Has RNA Helicase and Chaperoning Activities. ( 29237842 )
2018
29
Erythrosin B is a potent and broad-spectrum orthosteric inhibitor of the flavivirus NS2B-NS3 protease. ( 29288700 )
2018
30
Phylogenetic analysis, structure modeling and docking study of HCV NS3 protease for the identification of potent inhibitors. ( 29391202 )
2018
31
Neuregulin 1 discovered as a cleavage target for the HCV NS3/4A protease by a microfluidic membrane protein array. ( 29438748 )
2018
32
Use of next-generation sequencing in the CHAT study (acute HCV in HIV): effect of baseline resistance-associated NS3 variants on treatment failure. ( 29493385 )
2018
33
Zirconium catalyzed synthesis of 2-arylidene Indan-1,3-diones and evaluation of their inhibitory activity against NS2B-NS3 WNV protease. ( 29499491 )
2018
34
Structural insights into a multifunctional inhibitor, 'AMTIN' from tubers of Alocasia macrorrhizos and its possible role in dengue protease (NS2B-NS3) inhibition. ( 29505868 )
2018
35
African horse sickness virus (AHSV) with a deletion of 77 amino acids in NS3/NS3a protein is not virulent and a safe promising AHS Disabled Infectious Single Animal (DISA) vaccine platform. ( 29525278 )
2018
36
Structural Insights into the Inhibition of Zika Virus NS2B-NS3 Protease by a Small-Molecule Inhibitor. ( 29526431 )
2018
37
The effect of the first-generation HCV-protease inhibitors boceprevir and telaprevir and the relation to baseline NS3 resistance mutations in genotype 1: experience from a small Swedish cohort. ( 29536805 )
2018
38
P3-P4 ureas and reverse carbamates as potent HCV NS3 protease inhibitors: Effective transposition of the P4 hydrogen bond donor. ( 29650290 )
2018
39
Structure activity relationship (SAR) and quantitative structure activity relationship (QSAR) studies showed plant flavonoids as potential inhibitors of dengue NS2B-NS3 protease. ( 29673347 )
2018
40
The Transactions of NS3 and NS5 in Flaviviral RNA Replication. ( 29845531 )
2018
41
Tumor Necrosis Factor Receptor-Associated Factor 5 Interacts with the NS3 Protein and Promotes Classical Swine Fever Virus Replication. ( 29874812 )
2018
42
4-Thiazolidinone coumarin derivatives as two-component NS2B/NS3 DENV flavivirus serine protease inhibitors: synthesis, molecular docking, biological evaluation and structure-activity relationship studies. ( 29896651 )
2018
43
Exploring the Lead Compounds for Zika Virus NS2B-NS3 Protein: an e-Pharmacophore-Based Approach. ( 29911269 )
2018
44
NS3 Protein from Rice stripe virus affects the expression of endogenous genes in Nicotiana benthamiana. ( 29940994 )
2018
45
Lead optimization studies towards finding NS2B/NS3 protease target-specific inhibitors as potential anti-dengue drug-like compounds. ( 29984660 )
2018
46
Quinoxaline-Based Linear HCV NS3/4A Protease Inhibitors Exhibit Potent Activity against Drug Resistant Variants. ( 30034602 )
2018
47
Interim analysis of a 3-year follow-up study of NS5A and NS3 resistance-associated substitutions after treatment with grazoprevir-containing regimens in participants with chronic HCV infection. ( 30038064 )
2018
48
Significance of mutations in the region coding for NS3/4 protease in patients infected with HCV genotype 1b. ( 30048050 )
2018
49
The Unique Cofactor Region of Zika Virus NS2B-NS3 Protease Facilitates Cleavage of Key Host Proteins. ( 30080377 )
2018
50
The Distinct Role of Small Heat Shock Protein 20 on HCV NS3 Expression in HEK-293T Cell Line. ( 30090208 )
2018
Sources

Variations for Noonan Syndrome 3

About this section

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

75
# 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
Sources

Expression for Noonan Syndrome 3

About this section
Search GEO for disease gene expression data for Noonan Syndrome 3.
Sources

Pathways for Noonan Syndrome 3

About this section

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

(show top 50) (show all 97)
# Super pathways Score Top Affiliating Genes
1
Innate Immune System 66
Show member pathways
 14.04 CD81 DDX58 HRAS IFNA1 IFNB1 IFNL3
2
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.31 HRAS IFNA1 IFNB1 IRF3 KRAS PPIA
3
Cytokine Signaling in Immune system 66
Show member pathways
 13.29 DDX58 HRAS IFNA1 IFNB1 IFNL3 IRF3
4
PI3K-Akt signaling pathway 37
Show member pathways
 13.01 HRAS IFNA1 IFNB1 IRF3 KRAS RAF1
5
Regulation of lipid metabolism Insulin signaling-generic cascades 22
Show member pathways
 12.94 HRAS KRAS PTPN11 RAF1 SOS1
6
Endometrial cancer 37
Show member pathways
 12.91 HRAS KRAS PTPN11 RAF1 SOS1
7
Human cytomegalovirus infection 37
Show member pathways
 12.91 DDX58 HRAS IFNA1 IFNB1 IRF3 KRAS
8
Pathways in cancer 37
12.88 HRAS IFNA1 KRAS RAF1 SOS1
9
Common Cytokine Receptor Gamma-Chain Family Signaling Pathways 65
Show member pathways
 12.83 HRAS KRAS PTPN11 RAF1 SOS1
10
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways 66
Show member pathways
 12.81 DDX58 IFNA1 IFNB1 IFNL3 IRF3 MAVS
11
Influenza A 37
Show member pathways
 12.78 DDX58 IFNA1 IFNB1 IRF3 MAVS PTPN11
12
Development HGF signaling pathway 22
Show member pathways
 12.77 HRAS KRAS PTPN11 RAF1 SOS1
13
Ras signaling pathway 37
Show member pathways
 12.77 HRAS KRAS PTPN11 RAF1 SHOC2 SOS1
14
NF-kappaB Signaling 4
12.63 DDX58 IFNA1 IRF3 MAVS PPIA
15
Immune response Fc epsilon RI pathway 22
Show member pathways
 12.61 CD81 HRAS KRAS PTPN11 RAF1 SOS1
16
Interferon gamma signaling 66
Show member pathways
 12.59 DDX58 IFNA1 IFNB1 IRF3 PTPN11
17
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.56 HRAS PTPN11 RAF1 SOS1
18
MicroRNAs in cancer 37
12.55 HRAS KRAS RAF1 SOS1
19
ErbB signaling pathway 1 37
Show member pathways
 12.54 HRAS KRAS PTPN11 RAF1 SOS1
20
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.53 HRAS KRAS RAF1 SOS1
21
Development FGFR signaling pathway 22
Show member pathways
 12.5 HRAS KRAS PTPN11 RAF1 SOS1
22
Prolactin Signaling Pathway 1 37
Show member pathways
 12.5 HRAS KRAS PPIA PTPN11 RAF1 SOS1
23
T cell receptor signaling pathway 37
Show member pathways
 12.49 HRAS KRAS PTPN11 RAF1 SOS1
24
VEGF Pathway (Qiagen) 22
Show member pathways
 12.47 HRAS IRF3 KRAS RAF1 SOS1
25
Phospholipase D signaling pathway 37
Show member pathways
 12.46 HRAS KRAS PTPN11 RAF1 SOS1
26
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.45 HRAS KRAS PTPN11 RAF1 SOS1
27
Development IGF-1 receptor signaling 22
Show member pathways
 12.44 HRAS PTPN11 RAF1 SOS1
28
MET promotes cell motility 66
Show member pathways
 12.4 HRAS KRAS PTPN11 SOS1
29
CNTF Signaling 64
Show member pathways
 12.39 HRAS KRAS RAF1 SOS1
30
B Cell Receptor Signaling Pathway (sino) 67
Show member pathways
 12.38 HRAS KRAS PTPN11 RAF1
31
Toll Comparative Pathway 64
Show member pathways
 12.37 HRAS IRF3 PTPN11 RAF1 SOS1
32
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 12.36 CD81 HRAS KRAS PTPN11 RAF1 SOS1
33
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.34 HRAS IFNA1 IFNB1 KRAS PTPN11 RAF1
34
Signaling by FGFR2 66
Show member pathways
 12.33 HRAS KRAS PTPN11 SOS1
35
Immune response IFN alpha/beta signaling pathway 22
Show member pathways
 12.33 IFNA1 IFNB1 IRF3 KRAS PTPN11
36
Epstein-Barr virus infection 37
12.32 DDX58 IFNA1 IFNB1 IRF3 MAVS
37
Proteoglycans in cancer 37
12.31 HRAS KRAS PTPN11 RAF1 SOS1
38
G-protein signaling Ras family GTPases in kinase cascades (scheme) 22
Show member pathways
 12.3 HRAS KRAS PTPN11 RAF1 SOS1
39
VEGF Signaling Pathway 61 67
Show member pathways
 12.29 HRAS KRAS RAF1 SOS1
40
Axon guidance 37
12.28 HRAS KRAS PTPN11 RAF1
41
C-type lectin receptor signaling pathway 37
Show member pathways
 12.27 HRAS KRAS PTPN11 RAF1
42
Cell surface interactions at the vascular wall 66
Show member pathways
 12.26 HRAS KRAS PPIA PTPN11 SOS1
43
GDNF-Family Ligands and Receptor Interactions 64
Show member pathways
 12.25 HRAS KRAS RAF1 SOS1
44
Kit receptor signaling pathway 1
Show member pathways
 12.23 HRAS PTPN11 RAF1 SOS1
45
NGF Pathway 64
Show member pathways
 12.2 HRAS KRAS RAF1 SOS1
46
EGF/EGFR Signaling Pathway 1
12.2 HRAS KRAS PTPN11 RAF1 SOS1
47
FoxO signaling pathway 37
Show member pathways
 12.15 HRAS KRAS RAF1 SOS1
48
Development EGFR signaling via small GTPases 22
Show member pathways
 12.15 HRAS KRAS PTPN11 RAF1 SOS1
49
IL-2 Signaling Pathway 1
Show member pathways
 12.08 HRAS KRAS PTPN11 RAF1 SOS1
50
Glioblastoma Multiforme 64
12.03 HRAS KRAS RAF1 SOS1
Sources

GO Terms for Noonan Syndrome 3

About this section

Cellular components related to Noonan Syndrome 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.4 DDX58 HRAS IRF3 KRAS LSG1 NRBP1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 viral process GO:0016032 9.99 CD81 DDX58 IRF3 MAVS PPIA
2 positive regulation of protein phosphorylation GO:0001934 9.86 HRAS KRAS MAVS RAF1
3 MAPK cascade GO:0000165 9.85 HRAS KRAS RAF1 RIT2 SOS1
4 cytokine-mediated signaling pathway GO:0019221 9.8 IFNA1 IFNB1 IFNL3 KRAS PTPN11 SOS1
5 small GTPase mediated signal transduction GO:0007264 9.79 HRAS RIT2 SOS1
6 type I interferon signaling pathway GO:0060337 9.76 IFNA1 IFNB1 IRF3
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.75 HRAS KRAS RAF1
8 negative regulation of viral genome replication GO:0045071 9.69 IFNB1 IFNL3 MAVS
9 negative regulation of type I interferon production GO:0032480 9.67 DDX58 IRF3 MAVS
10 positive regulation of tumor necrosis factor secretion GO:1904469 9.61 DDX58 MAVS
11 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.61 IRF3 MAVS
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.61 PTPN11 RAF1 SOS1
13 positive regulation of interferon-alpha secretion GO:1902741 9.6 DDX58 MAVS
14 cellular response to exogenous dsRNA GO:0071360 9.58 DDX58 IFNB1 MAVS
15 response to isolation stress GO:0035900 9.57 HRAS KRAS
16 response to exogenous dsRNA GO:0043330 9.56 DDX58 IFNA1 IFNB1 IRF3
17 positive regulation of myeloid dendritic cell cytokine production GO:0002735 9.55 DDX58 MAVS
18 positive regulation of response to cytokine stimulus GO:0060760 9.54 DDX58 MAVS
19 positive regulation of interferon-alpha production GO:0032727 9.54 DDX58 IRF3 MAVS
20 positive regulation of interferon-beta secretion GO:0035549 9.52 DDX58 MAVS
21 positive regulation of interferon-beta production GO:0032728 9.46 DDX58 IRF3 MAVS PTPN11
22 defense response to virus GO:0051607 9.43 DDX58 IFNA1 IFNB1 IFNL3 IRF3 MAVS
23 Ras protein signal transduction GO:0007265 9.02 HRAS KRAS RIT2 SHOC2 SOS1
24 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

Sources for Noonan Syndrome 3

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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