NS5
MCID: NNN012
MIFTS: 55

Noonan Syndrome 5 (NS5)

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 5

Summaries for Noonan Syndrome 5

UniProtKB/Swiss-Prot : 76 Noonan syndrome 5: 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 5, also known as ns5, is related to noonan syndrome 3 and dengue virus. An important gene associated with Noonan Syndrome 5 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase), and among its related pathways/superpathways are CNTF Signaling and C-type lectin receptor signaling pathway. The drugs Ribavirin and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include skin, kidney and liver, and related phenotypes are intellectual disability and thick vermilion border

Disease Ontology : 12 A Noonan syndrome that has material basis in mutation in the RAF1 gene.

Description from OMIM: 611553

Related Diseases for Noonan Syndrome 5

Graphical network of the top 20 diseases related to Noonan Syndrome 5:



Diseases related to Noonan Syndrome 5

Symptoms & Phenotypes for Noonan Syndrome 5

Human phenotypes related to Noonan Syndrome 5:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 thick vermilion border 33 very rare (1%) HP:0012471
3 short stature 33 very rare (1%) HP:0004322
4 hypertrophic cardiomyopathy 33 very rare (1%) HP:0001639
5 webbed neck 33 very rare (1%) HP:0000465
6 atrial septal defect 33 very rare (1%) HP:0001631
7 pulmonic stenosis 33 very rare (1%) HP:0001642
8 macrocephaly 33 HP:0000256
9 hypertelorism 33 HP:0000316
10 low-set ears 33 HP:0000369
11 short neck 33 HP:0000470
12 ptosis 33 HP:0000508
13 mandibular prognathia 33 HP:0000303
14 global developmental delay 33 HP:0001263
15 abnormal facial shape 33 HP:0001999
16 prominent forehead 33 HP:0011220
17 arrhythmia 33 HP:0011675
18 epicanthus 33 HP:0000286
19 wide mouth 33 HP:0000154
20 downslanted palpebral fissures 33 HP:0000494
21 abnormality of the sternum 33 HP:0000766

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly
dolicocephaly (in some patients)

Head And Neck Ears:
low-set ears
thickened helix
large thick ear lobe (in some patients)

Growth Height:
short stature

Skeletal Limbs:
cubitus valgus

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (in some patients)

Cardiovascular Heart:
hypertrophic cardiomyopathy (in some patients)
pulmonary valve stenosis (in some patients)
arrhythmia, variable

Skin Nails Hair Skin:
nevi (in some patients)

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
epicanthal folds
palpebral ptosis

Head And Neck Neck:
short neck
webbed neck

Head And Neck Face:
prominent forehead
prominent chin

Neurologic Central Nervous System:
mental retardation (in some patients)
developmental delay ( in some patients)

Head And Neck Nose:
flat nasal bridge (in some patients)

Head And Neck Mouth:
macrostomia (uncommon)
thick lips (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus anomaly

Skin Nails Hair Hair:
curly hair (in some patients)

Clinical features from OMIM:

611553

GenomeRNAi Phenotypes related to Noonan Syndrome 5 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-1 9.26 DDX23 RIT2 UBR4
2 Decreased vesicular stomatitis virus (VSV) infection GR00241-A-2 9.26 RIT2
3 Increased transcriptional activity GR00354-A 8.8 STAT1 STAT2 ZMYND11

Drugs & Therapeutics for Noonan Syndrome 5

Drugs for Noonan Syndrome 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 4,Phase 2,Phase 3 36791-04-5 37542
2
Sofosbuvir Approved Phase 4,Phase 2,Phase 3 1190307-88-0 45375808
3
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
6
Velpatasvir Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 1377049-84-7 67683363
7 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 MK-5172 Phase 4,Phase 3,Phase 2,Phase 1
9 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
10 Antimetabolites Phase 4,Phase 2,Phase 3
11 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
12
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
13 Elbasvir-grazoprevir drug combination Phase 4,Phase 3,Phase 2,Phase 1
14 Analgesics, Opioid Phase 4,Not Applicable
15 Anesthetics, General Phase 4
16 Analgesics Phase 4,Not Applicable
17 Anesthetics Phase 4
18 Central Nervous System Depressants Phase 4,Not Applicable
19 Anesthetics, Intravenous Phase 4
20 Adjuvants, Anesthesia Phase 4
21 Peripheral Nervous System Agents Phase 4,Not Applicable
22 Narcotics Phase 4,Not Applicable
23 Anesthetics, Local Phase 4
24 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Sofosbuvir-velpatasvir drug combination Phase 4,Phase 2
26 Iron-Dextran Complex Phase 4
27
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
28
Ritonavir Approved, Investigational Phase 3,Phase 2,Phase 1 155213-67-5 392622
29
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2 198153-51-4 5360545
30
Ledipasvir Approved Phase 2, Phase 3,Phase 3,Phase 1 1256388-51-8 67505836
31
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
32
Tenofovir Approved, Experimental, Investigational Phase 2, Phase 3 147127-20-6 464205
33 Interferon alpha-2 Phase 3,Phase 2
34 Immunologic Factors Phase 3,Phase 2,Phase 1
35 interferons Phase 3,Phase 2,Phase 1
36 Interferon-alpha Phase 3,Phase 2,Phase 1
37 Anti-HIV Agents Phase 3,Phase 2,Phase 1
38 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2,Phase 1
39 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2,Phase 1
40 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
41 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
42 Ledipasvir, sofosbuvir drug combination Phase 2, Phase 3,Phase 3
43 Antibodies Phase 2, Phase 3
44 Reverse Transcriptase Inhibitors Phase 2, Phase 3
45 Immunoglobulins Phase 2, Phase 3
46 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
47 Uprifosbuvir Approved, Investigational Phase 2 1496551-77-9
48 Ruzasvir Investigational Phase 2 1613081-64-3
49 Vaccines Phase 1, Phase 2
50 Silybin Phase 2

Interventional clinical trials:

(show top 50) (show all 99)
# Name Status NCT ID Phase Drugs
1 Safety and Effect of Elbasvir/Grazoprevir Combination Therapy in Hemodialysis Patients With Chronic Hepatitis C Unknown status NCT03022006 Phase 4 elbasvir, grazoprevir
2 Efficacy and Tolerability of Grazoprevir and Elbasvir in Patients With Chronic Genotype 1 HCV and HIV Co-infection Completed NCT03098121 Phase 4 grazoprevir and elbasvir
3 Efficacy and Safety of Sofosbuvir+Ribavirin in Genotype 2 HCV-infected U.S. Veterans With Cirrhosis Completed NCT02128542 Phase 4 Sofosbuvir;RBV
4 Exploring Renal Transplants Using Hepatitis C Infected Donors for HCV-negative Recipients Completed NCT02781649 Phase 4 Zepatier;Ribavirin;Sofosbuvir
5 Intrathecal Morphine Analgesia vs. Continuous Epidural Analgesia vs. Systemic Analgesia in Colorectal Surgery. Completed NCT03007121 Phase 4 Morphine intrathecal;Bupivacaine + Sufentanil epidural;Morphine intravenous
6 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4 Grazoprevir plus Elbasvir
7 Bioequivalence Study of Crushed Sofosbuvir/Velpatasvir Compared to the Whole Tablet Recruiting NCT03389061 Phase 4 sofosbuvir/velpatasvir tablet;sofosbuvir/velpatasvir crushed
8 deLIVER: Direct Acting Antiviral Effects on the Liver Active, not recruiting NCT02938013 Phase 4 Sofosbuvir/Velpatasvir/Voxilaprevir [SOF/VEL/VOX];Sofosbuvir/Velpatasvir (SOF/VEL)
9 Hepatitis C Treatment in PWIDs: MAT or Syringe Exchange Assisted-therapy vs Standard of Care Enrolling by invitation NCT03093415 Phase 4 elbasvir-grazoprevir (50 mg/100 mg)
10 ATTIC - Access To Treat in the Community Not yet recruiting NCT03797066 Phase 4 ZEPATIER 50Mg-100Mg Tablet
11 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]
12 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
13 A Study of the Efficacy and Safety of PPI-668 (NS5A Inhibitor) Plus Sofosbuvir, With or Without Ribavirin, in Patients With Chronic Hepatitis C Genotype-4 Unknown status NCT02371408 Phase 2, Phase 3 ravidasvir hydrochloride;sofosbuvir;ribavirin
14 Daclatasvir, Asunaprevir Plus Ribavirin for HCV Genotype 1b Without NS5A RAV Completed NCT03004625 Phase 3 daclatasvir;asunaprevir;Ribavirin
15 Safety and Efficacy of SOF/VEL/VOX FDC for 12 Weeks and SOF/VEL for 12 Weeks in DAA-Experienced Adults With Chronic HCV Infection Who Have Not Received an NS5A Inhibitor Completed NCT02639247 Phase 3 SOF/VEL/VOX;SOF/VEL
16 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
17 SOF Plus DCV in Treating Chinese Treatment-experienced HCV Patients Completed NCT02473211 Phase 2, Phase 3 Sofosbuvir;Daclatasvir
18 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Completed NCT03186365 Phase 3 Zepatier Oral Product
19 Phase III BMS-790052 Add-On to Peg-Interferon Alfa-2a and Ribavirin in Naive Hepatitis C Completed NCT01448044 Phase 3 BMS-790052 (NS5A Replication Complex Inhibitor);Placebo matching BMS-790052;Pegylated-interferon alfa 2a;Ribavirin
20 A Study of Daclatasvir and Sofosbuvir With Ribavirin in Subjects With Cirrhosis and Genotype 3 Hepatitis C Infection Completed NCT02673489 Phase 3 DCV;SOF;RBV
21 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
22 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
23 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
24 Trial of Simplified Treatment Monitoring for 8 Weeks Glecaprevir/Pibrentasvir in Chronic Hepatitis C Patients Active, not recruiting NCT03117569 Phase 3 glecaprevir (300mg)/pibrentasvir (120mg)
25 Efficacy of GZR/EBR in Early Chronic Hepatitis C in HIV/HCV Co-infected Patients Active, not recruiting NCT02897596 Phase 3 Grazoprevir 100 mg/d 8 weeks;Elbasvir 50 mg/d 8 weeks;Grazoprevir 100 mg/d 12 weeks;Elbasvir 50 mg/d 12 weeks
26 Multi-Center, Randomized, Open-Label Study of G/P +/- RBV for NS5A + SOF Previously Treated GT1 HCV Subjects Enrolling by invitation NCT03092375 Phase 3 Glecaprevir/Pibrentasvir (G/P) 300mg/120mg;Ribavirin 200Mg Tablet;Sofosbuvir 400Mg Tab
27 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
28 Study of Hepatitis C Virus (HCV) Nonstructural Protein 5a (NS5A) Inhibitor IDX719 in Healthy and HCV-Infected Participants (MK-1894-001) Completed NCT01508156 Phase 1, Phase 2 IDX719;Placebo
29 Ph IIA Study (SOC +/- NS5B) Completed NCT01193361 Phase 2 BMS-791325;BMS-791325;Placebo;Peg-interferon alfa-2a;Ribavirin
30 Safety, Antiviral Activity, and Pharmacokinetics of GSK2336805 With Peginterferon and Ribavirin in Chronic Hepatitis C Subjects Completed NCT01439373 Phase 2 GSK2336805;Pegylated interferon alfa-2a;Ribavirin;GSK2336805 Matching Placebo
31 Dose Ranging of GSK2336805 in Combination Therapy Completed NCT01648140 Phase 2 GSK2336805 40 mg;GSK2336805 60 mg;Pegylated interferon alpha-2a;Ribavirin;Telaprevir
32 Triple DAAs Regimen in Treating Non-cirrhotic HCV GT1b Subjects Completed NCT02470858 Phase 2 LDV/SOF+ASV;SOF+DCV+SMV;SOF+DCV+ASV
33 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
34 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Completed NCT03119025 Phase 1, Phase 2
35 Viral Kinetics, Interferon Stimulated Genes (ISGs) and mirRNA Among Subjects Infected With Different Hepatitis C Virus Genotypes During Therapy With Sofosbuvir and GS-5816 Completed NCT02468648 Phase 2 Sofosbuvir;GS-5816
36 THISTLE - The HIV-HCV Silibinin Trial Completed NCT01816490 Phase 2 Intravenous Silibinin (iSIL)
37 Study of A Combination Pill With GS-7977 and GS-5885 for Hepatitis C in People With HIV Completed NCT01878799 Phase 2 GS-7977/GS- 5885 FDC
38 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
39 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)
40 A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Antiviral Activity of Multiple Doses of ABT-333 Alone and in Combination With Pegylated Interferon (pegIFN) and Ribavirin (RBV) in Subjects With Genotype 1 Chronic Hepatitis C Virus (HCV) Infection Completed NCT00851890 Phase 2 ABT-333;Pegylated interferon;Ribavirin
41 Study of PPI-668, BI 207127 and Faldaprevir, With and Without Ribavirin, in the Treatment of Chronic Hepatitis C Completed NCT01859962 Phase 2 PPI-668;BI 207127 Dose 1;BI 207127 Dose 2;Faldaprevir;Ribavirin;BI 207127 Placebo
42 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
43 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
44 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)
45 A Phase 2 Study to Evaluate the Safety, Efficacy, Pharmacokinetics, and Pharmacodynamics of VX-135 and Daclatasvir in Subjects With Genotype 1 Chronic Hepatitis C Chronic Hepatitis C Completed NCT01842451 Phase 2 VX-135;Daclatasvir
46 A Study to Evaluate the Efficacy and Safety of Quadruple Therapy (VX-222, Telaprevir,Peginterferon-Alfa-2a, Ribavirin) in Subjects With Chronic Hepatitis C With Compensated Cirrhosis Completed NCT01516918 Phase 2 VX-222;telaprevir;ribavirin
47 VX-222 + Telaprevir + Ribavirin for 12 or 16 Weeks in Treatment-Naive Subjects With Genotype 1a Hepatitis C Completed NCT01581138 Phase 2 VX-222;telaprevir;ribavirin
48 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
49 Expanding the Pool in Orthotopic Heart Transplantation Recruiting NCT03222531 Phase 2 sofosbuvir/velpatasvir
50 A Direct obserVed therApy vs fortNightly CollEction Study for HCV Treatment - ADVANCE HCV Study Recruiting NCT03236506 Phase 2 Zepatier Pill;Sofosbuvir Pill

Search NIH Clinical Center for Noonan Syndrome 5

Genetic Tests for Noonan Syndrome 5

Genetic tests related to Noonan Syndrome 5:

# Genetic test Affiliating Genes
1 Noonan Syndrome 5 30 RAF1

Anatomical Context for Noonan Syndrome 5

MalaCards organs/tissues related to Noonan Syndrome 5:

42
Skin, Kidney, Liver, Testes, T Cells, Brain, Eye

Publications for Noonan Syndrome 5

Articles related to Noonan Syndrome 5:

(show top 50) (show all 221)
# Title Authors Year
1
Host-specific NS5 ubiquitination determines yellow fever virus tropism. ( 31043530 )
2019
2
Optimization of a fragment linking hit toward Dengue and Zika virus NS5 methyltransferases inhibitors. ( 30368131 )
2019
3
Zika virus NS5 forms supramolecular nuclear bodies that sequester importin alpha and modulate the host immune and pro-inflammatory response in neuronal cells. ( 30848123 )
2019
4
Expression and purification of the truncated duck DTMUV NS5 protein and the subcellular localization of NS5 in vitro. ( 30915447 )
2019
5
Supramolecular arrangement of the full-length Zika virus NS5. ( 30951555 )
2019
6
Proposing drug fragments for dengue virus NS5 protein. ( 29945503 )
2018
7
Dengue virus-1 NS5 genetic variant associated with a severe clinical infection: Possible reduction of the innate immune response by inhibition of interferon type 1 and the Janus kinase-signal transducer and activator of transcription signaling pathway. ( 29344662 )
2018
8
Inhibition of dengue virus infection by small interfering RNAs that target highly conserved sequences in the NS4B or NS5 coding regions. ( 29392497 )
2018
9
Tick-Borne Encephalitis Virus Nonstructural Protein NS5 Induces RANTES Expression Dependent on the RNA-Dependent RNA Polymerase Activity. ( 29760190 )
2018
10
Anti-apoptotic activity of Japanese encephalitis virus NS5 protein in human medulloblastoma cells treated with interferon-β. ( 28559152 )
2018
11
Nucleocytoplasmic shuttling of the West Nile virus RNA-dependent RNA polymerase NS5 is critical to infection. ( 29582535 )
2018
12
Inhibition of West Nile virus Replication by Bifunctional siRNA Targeting the NS2A and NS5 Conserved Region. ( 29874999 )
2018
13
The Transactions of NS3 and NS5 in Flaviviral RNA Replication. ( 29845531 )
2018
14
Functionalized 2,1-benzothiazine 2,2-dioxides as new inhibitors of Dengue NS5 RNA-dependent RNA polymerase. ( 29137867 )
2018
15
Inhibition of dengue viral infection by diasarone-I is associated with 2'O methyltransferase of NS5. ( 29246851 )
2018
16
Structure and function of Zika virus NS5 protein: perspectives for drug design. ( 29423529 )
2018
17
Glutathionylation of dengue and Zika NS5 proteins affects guanylyltransferase and RNA dependent RNA polymerase activities. ( 29470500 )
2018
18
Infection with a Brazilian isolate of Zika virus generates RIG-I stimulatory RNA and the viral NS5 protein blocks type I IFN induction and signaling. ( 29572905 )
2018
19
Allosteric ligands for the pharmacologically important Flavivirus target (NS5) from ZINC database based on pharmacophoric points, free energy calculations and dynamics correlation. ( 29677482 )
2018
20
A molecular dynamics simulation study decodes the Zika virus NS5 methyltransferase bound to SAH and RNA analogue. ( 29679079 )
2018
21
A panoptic uncovering of the dynamical evolution of the Zika Virus NS5 methyltransferase binding site loops-zeroing in on the molecular landscape. ( 29923677 )
2018
22
High-Quality Draft Single-Cell Genome Sequence of the NS5 Marine Group from the Coastal Red Sea. ( 29930069 )
2018
23
Identification of a Small Interface between the Methyltransferase and RNA Polymerase of NS5 that is Essential for Zika Virus Replication. ( 30478404 )
2018
24
Zika virus NS5 protein antagonizes type I interferon production via blocking TBK1 activation. ( 30530224 )
2018
25
Suppression of Type I Interferon Signaling by Flavivirus NS5. ( 30558110 )
2018
26
Recombinant DENV 2 NS5: An Effective Antigen for Diagnosis of DENV Infection. ( 30562608 )
2018
27
Zika virus NS5 protein potential inhibitors: an enhanced in silico approach in drug discovery. ( 28351337 )
2018
28
Interactions between the Dengue Virus Polymerase NS5 and Stem-Loop A. ( 28356528 )
2017
29
Discovery of novel dengue virus NS5 methyltransferase non-nucleoside inhibitors by fragment-based drug design. ( 27750202 )
2017
30
Crystal structure of full-length Zika virus NS5 protein reveals a conformation similar to Japanese encephalitis virus NS5. ( 28291746 )
2017
31
Japanese Encephalitis Virus NS5 Inhibits Type I Interferon (IFN) Production by Blocking the Nuclear Translocation of IFN Regulatory Factor 3 and NF-κB. ( 28179530 )
2017
32
Structural analysis and insight into Zika virus NS5 mediated interferon inhibition. ( 28365387 )
2017
33
Selective Activation of Type II Interferon Signaling by Zika Virus NS5 Protein. ( 28468880 )
2017
34
Inhibition of miR-274-3p increases BmCPV replication by regulating the expression of BmCPV NS5 gene in Bombyx mori. ( 28493152 )
2017
35
Significant inhibition of Tembusu virus envelope and NS5 gene using an adenovirus-mediated short hairpin RNA delivery system. ( 28780191 )
2017
36
Escape of tick-borne flavivirus from 2' -C-methylated nucleoside antivirals is mediated by a single conservative mutation in NS5 that has a dramatic effect on viral fitness. ( 28814513 )
2017
37
Structure of the NS5 methyltransferase from Zika virus and implications in inhibitor design. ( 27866982 )
2017
38
The Many Faces of the Flavivirus NS5 Protein in Antagonism of Type I Interferon Signaling. ( 27881649 )
2017
39
Substrate selectivity of Dengue and Zika virus NS5 polymerase towards 2'-modified nucleotide analogues. ( 28041959 )
2017
40
The crystal structure of Zika virus NS5 reveals conserved drug targets. ( 28254839 )
2017
41
Crystal structure of Zika virus NS5 RNA-dependent RNA polymerase. ( 28345596 )
2017
42
The structure of Zika virus NS5 reveals a conserved domain conformation. ( 28345600 )
2017
43
Structure and function of the Zika virus full-length NS5 protein. ( 28345656 )
2017
44
Potent Allosteric Dengue Virus NS5 Polymerase Inhibitors: Mechanism of Action and Resistance Profiling. ( 27500641 )
2016
45
The Dengue Virus NS5 Protein Intrudes in the Cellular Spliceosome and Modulates Splicing. ( 27575636 )
2016
46
The C-terminal 18 Amino Acid Region of Dengue Virus NS5 Regulates its Subcellular Localization and Contains a Conserved Arginine Residue Essential for Infectious Virus Production. ( 27622521 )
2016
47
Looking for inhibitors of the dengue virus NS5 RNA-dependent RNA-polymerase using a molecular docking approach. ( 27784988 )
2016
48
Dynamic Nucleolar Targeting of Dengue Virus Polymerase NS5 in Response to Extracellular pH. ( 27076639 )
2016
49
Identification of the critical linker residues conferring differences in the compactness of NS5 from Dengue virus serotype 4 and NS5 from Dengue virus serotypes 1-3. ( 27303800 )
2016
50
Novel 2-phenyl-5-[(E)-2-(thiophen-2-yl)ethenyl]-1,3,4-oxadiazole and 3-phenyl-5-[(E)-2-(thiophen-2-yl)ethenyl]-1,2,4-oxadiazole derivatives as dengue virus inhibitors targeting NS5 polymerase. ( 26774922 )
2016

Variations for Noonan Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Noonan Syndrome 5:

76 (show all 14)
# Symbol AA change Variation ID SNP ID
1 RAF1 p.Arg256Ser VAR_037807 rs397516826
2 RAF1 p.Ser257Leu VAR_037808 rs80338796
3 RAF1 p.Ser259Phe VAR_037809 rs397516827
4 RAF1 p.Thr260Arg VAR_037811
5 RAF1 p.Pro261Ala VAR_037812 rs121434594
6 RAF1 p.Pro261Leu VAR_037813 rs397516828
7 RAF1 p.Pro261Ser VAR_037814 rs121434594
8 RAF1 p.Val263Ala VAR_037815 rs397516830
9 RAF1 p.Asp486Gly VAR_037816 rs397516815
10 RAF1 p.Asp486Asn VAR_037817 rs80338798
11 RAF1 p.Thr491Ile VAR_037818 rs80338799
12 RAF1 p.Thr491Arg VAR_037819 rs80338799
13 RAF1 p.Ser612Thr VAR_037820 rs144839246
14 RAF1 p.Leu613Val VAR_037821 rs80338797

ClinVar genetic disease variations for Noonan Syndrome 5:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh37 Chromosome 3, 12645699: 12645699
2 RAF1 NM_002880.3(RAF1): c.770C> T (p.Ser257Leu) single nucleotide variant Pathogenic rs80338796 GRCh38 Chromosome 3, 12604200: 12604200
3 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
4 RAF1 NM_002880.3(RAF1): c.781C> T (p.Pro261Ser) single nucleotide variant Pathogenic rs121434594 GRCh38 Chromosome 3, 12604189: 12604189
5 RAF1 NM_002880.3(RAF1): c.1472C> G (p.Thr491Arg) single nucleotide variant Likely pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
6 RAF1 NM_002880.3(RAF1): c.1472C> G (p.Thr491Arg) single nucleotide variant Likely pathogenic rs80338799 GRCh38 Chromosome 3, 12585745: 12585745
7 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh37 Chromosome 3, 12626123: 12626123
8 RAF1 NM_002880.3(RAF1): c.1837C> G (p.Leu613Val) single nucleotide variant Pathogenic rs80338797 GRCh38 Chromosome 3, 12584624: 12584624
9 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh37 Chromosome 3, 12645688: 12645688
10 RAF1 NM_002880.3(RAF1): c.781C> G (p.Pro261Ala) single nucleotide variant Pathogenic/Likely pathogenic rs121434594 GRCh38 Chromosome 3, 12604189: 12604189
11 RAF1 NM_002880.3(RAF1): c.782C> G (p.Pro261Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397516828 GRCh37 Chromosome 3, 12645687: 12645687
12 RAF1 NM_002880.3(RAF1): c.782C> G (p.Pro261Arg) single nucleotide variant Pathogenic/Likely pathogenic rs397516828 GRCh38 Chromosome 3, 12604188: 12604188
13 RAF1 NM_002880.3(RAF1): c.1467G> C (p.Leu489Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 12627249: 12627249
14 RAF1 NM_002880.3(RAF1): c.1467G> C (p.Leu489Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 12585750: 12585750
15 RAF1 NM_002880.3(RAF1): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs397516828 GRCh38 Chromosome 3, 12604188: 12604188
16 RAF1 NM_002880.3(RAF1): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs397516828 GRCh37 Chromosome 3, 12645687: 12645687
17 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh37 Chromosome 3, 12626146: 12626146
18 RAF1 NM_002880.3(RAF1): c.1814C> T (p.Ser605Phe) single nucleotide variant Uncertain significance rs730881004 GRCh38 Chromosome 3, 12584647: 12584647
19 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh37 Chromosome 3, 12650341: 12650341
20 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh38 Chromosome 3, 12608842: 12608842
21 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh37 Chromosome 3, 12647779: 12647779
22 RAF1 NM_002880.3(RAF1): c.601A> G (p.Ile201Val) single nucleotide variant Uncertain significance rs757700986 GRCh38 Chromosome 3, 12606280: 12606280
23 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh38 Chromosome 3, 12604182: 12604182
24 RAF1 NM_002880.3(RAF1): c.788T> A (p.Val263Asp) single nucleotide variant Pathogenic/Likely pathogenic rs397516830 GRCh37 Chromosome 3, 12645681: 12645681

Expression for Noonan Syndrome 5

Search GEO for disease gene expression data for Noonan Syndrome 5.

Pathways for Noonan Syndrome 5

GO Terms for Noonan Syndrome 5

Biological processes related to Noonan Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 defense response to virus GO:0051607 9.33 STAT1 STAT2 ZMYND11
2 negative regulation of I-kappaB kinase/NF-kappaB signaling GO:0043124 9.26 STAT1 ZMYND11
3 viral process GO:0016032 9.02 STAT1 STAT2 TRIM23 UBR4 ZMYND11
4 JAK-STAT cascade GO:0007259 8.96 STAT1 STAT2

Molecular functions related to Noonan Syndrome 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.35 RAF1 RIT2 STAT1 STAT2 TRIM23
2 ubiquitin-like protein ligase binding GO:0044389 8.62 STAT1 STAT2

Sources for Noonan Syndrome 5

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
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