NS5
MCID: NNN012
MIFTS: 48

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 : 75 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 Sofosbuvir and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and eye, and related phenotypes are macrocephaly and hypertelorism

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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Noonan Syndrome 5:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 ptosis 32 HP:0000508
6 intellectual disability 32 very rare (1%) HP:0001249
7 mandibular prognathia 32 HP:0000303
8 global developmental delay 32 HP:0001263
9 abnormal facial shape 32 HP:0001999
10 thick vermilion border 32 very rare (1%) HP:0012471
11 short stature 32 very rare (1%) HP:0004322
12 prominent forehead 32 HP:0011220
13 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
14 arrhythmia 32 HP:0011675
15 epicanthus 32 HP:0000286
16 webbed neck 32 very rare (1%) HP:0000465
17 atrial septal defect 32 very rare (1%) HP:0001631
18 wide mouth 32 HP:0000154
19 downslanted palpebral fissures 32 HP:0000494
20 pulmonic stenosis 32 very rare (1%) HP:0001642
21 abnormality of the sternum 32 HP:0000766

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

26
# 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 68)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sofosbuvir Approved Phase 4,Phase 2,Phase 3 1190307-88-0 45375808
2
Ribavirin Approved Phase 4,Phase 2,Phase 3 36791-04-5 37542
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
6
Ledipasvir Approved Phase 4,Phase 3,Phase 2,Phase 1 1256388-51-8 67505836
7 Anti-Infective Agents Phase 4,Phase 2,Phase 3,Phase 1
8 Antimetabolites Phase 4,Phase 2,Phase 3
9 Antiviral Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 HIV Protease Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
11
protease inhibitors Phase 4,Phase 3,Phase 2,Phase 1
12 Sofosbuvir-velpatasvir drug combination Phase 4
13 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Elbasvir-grazoprevir drug combination Phase 4,Phase 3,Phase 2
15 Iron-Dextran Complex Phase 4
16 Analgesics, Opioid Phase 4,Not Applicable
17 Narcotics Phase 4,Not Applicable
18 Anesthetics, Local Phase 4
19 Analgesics Phase 4,Not Applicable
20 Central Nervous System Depressants Phase 4,Not Applicable
21 Anesthetics, General Phase 4
22 Anesthetics, Intravenous Phase 4
23 Peripheral Nervous System Agents Phase 4,Not Applicable
24 Anesthetics Phase 4
25 Adjuvants, Anesthesia Phase 4
26
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
27
Ritonavir Approved, Investigational Phase 3,Phase 2,Phase 1 155213-67-5 392622
28
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2 198153-51-4 5360545
29
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
30
Tenofovir Experimental, Investigational Phase 2, Phase 3 147127-20-6 464205
31 Interferon-alpha Phase 3,Phase 2,Phase 1
32 interferons Phase 3,Phase 2,Phase 1
33 Immunologic Factors Phase 3,Phase 2,Phase 1
34 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
35 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2,Phase 1
36 Anti-HIV Agents Phase 3,Phase 2,Phase 1
37 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2,Phase 1
38 Ledipasvir, sofosbuvir drug combination Phase 3,Phase 2
39 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
40 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
41 Reverse Transcriptase Inhibitors Phase 2, Phase 3
42 Antibodies Phase 2, Phase 3
43 Immunoglobulins Phase 2, Phase 3
44 Krestin Phase 2
45 Antibodies, Monoclonal Phase 2
46 Vaccines Phase 1, Phase 2
47 Antioxidants Phase 2
48 Silybin Phase 2
49 Protective Agents Phase 2
50 silymarin Phase 2

Interventional clinical trials:

(show top 50) (show all 98)
# Name Status NCT ID Phase Drugs
1 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
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 A Study for G1b CHC Patients With CKD-3 Treated With Grazoprevir Plus Elbasvir Recruiting NCT03144635 Phase 4 Grazoprevir plus Elbasvir
4 Bioequivalence Study of Crushed Sofosbuvir/Velpatasvir Compared to the Whole Tablet Recruiting NCT03389061 Phase 4 sofosbuvir/velpatasvir tablet;sofosbuvir/velpatasvir crushed
5 Safety and Effect of Elbasvir/Grazoprevir Combination Therapy in Hemodialysis Patients With Chronic Hepatitis C Recruiting NCT03022006 Phase 4 elbasvir, grazoprevir
6 ATTIC - Access To Treat in the Community Not yet recruiting NCT03797066 Phase 4 ZEPATIER 50Mg-100Mg Tablet
7 Efficacy and Safety of Sofosbuvir+Ribavirin in Genotype 2 HCV-infected U.S. Veterans With Cirrhosis Completed NCT02128542 Phase 4 Sofosbuvir;RBV
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 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]
10 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)
11 Exploring Renal Transplants Using Hepatitis C Infected Donors for HCV-negative Recipients Completed NCT02781649 Phase 4 Zepatier;Ribavirin;Sofosbuvir
12 Intrathecal Morphine Analgesia vs. Continuous Epidural Analgesia vs. Systemic Analgesia in Colorectal Surgery. Recruiting NCT03007121 Phase 4 Morphine intrathecal;Bupivacaine + Sufentanil epidural;Morphine intravenous
13 LIVE-C-Free: Early and Late Treatment of Hepatitis C With Sofosbuvir/Ledipasvir in Liver Transplant Recipients Completed NCT02631772 Phase 4 Sofosbuvir/Ledipasvir x 12 weeks;Sofosbuvir/Ledipasvir + Ribavirin x 12 weeks
14 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
15 Daclatasvir, Asunaprevir Plus Ribavirin for HCV Genotype 1b Without NS5A RAV Completed NCT03004625 Phase 3 daclatasvir;asunaprevir;Ribavirin
16 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
17 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
18 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
19 SOF Plus DCV in Treating Chinese Treatment-experienced HCV Patients Completed NCT02473211 Phase 2, Phase 3 Sofosbuvir;Daclatasvir
20 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)
21 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Completed NCT03186365 Phase 3 Zepatier Oral Product
22 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
23 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
24 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
25 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
26 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
27 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
28 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
29 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
30 Ph IIA Study (SOC +/- NS5B) Completed NCT01193361 Phase 2 BMS-791325;BMS-791325;Placebo;Peg-interferon alfa-2a;Ribavirin
31 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
32 Dose Ranging of GSK2336805 in Combination Therapy Completed NCT01648140 Phase 2 GSK2336805 40 mg;GSK2336805 60 mg;Pegylated interferon alpha-2a;Ribavirin;Telaprevir
33 Triple DAAs Regimen in Treating Non-cirrhotic HCV GT1b Subjects Completed NCT02470858 Phase 2 LDV/SOF+ASV;SOF+DCV+SMV;SOF+DCV+ASV
34 Triple or Quadruple Combination DAAs Treatment for Subjects With HCV GT 1b Infection Not yet recruiting NCT03794258 Phase 2 SOF+DCV+CDI-31244;SOF+DCV+CDI-31244+ASV
35 Open Label Study of the Efficacy and Safety of MBL-HCV1 in Combination With Oral Direct-Acting Antivirals in Patients Undergoing Liver Transplantation for Hepatitis C Terminated NCT01532908 Phase 2 Telaprevir (Part 1);Sofosbuvir (Part 2)
36 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
37 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
38 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
39 THISTLE - The HIV-HCV Silibinin Trial Completed NCT01816490 Phase 2 Intravenous Silibinin (iSIL)
40 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
41 The Use of Hepatitis C Positive Kidneys in Hepatitis C Negative Kidney Transplant Recipients Not yet recruiting NCT03809533 Phase 2 sofosbuvir/velpatasvir
42 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
43 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)
44 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
45 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
46 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
47 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
48 Efficacy and Safety of Uprifosbuvir (MK-3682) With Ruzasvir (MK-8408) in Adults With Chronic Hepatitis C Genotype 1, 2, 3, 4, 5 or 6 Infection (MK-3682-035) Terminated NCT02759315 Phase 2 Uprifosbuvir 450 mg;Ruzasvir 60 mg
49 A Direct obserVed therApy vs fortNightly CollEction Study for HCV Treatment - ADVANCE HCV Study Recruiting NCT03236506 Phase 2 Zepatier Pill;Sofosbuvir Pill
50 Evaluation of Daclatasvir (DCV) in Combination With Sofosbuvir (SOF) in Children With Chronic Hepatitis C (CHC) Infection Recruiting NCT03487848 Phase 2 Daclatasvir;Sofosbuvir

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 29 RAF1

Anatomical Context for Noonan Syndrome 5

MalaCards organs/tissues related to Noonan Syndrome 5:

41
Skin, Heart, Eye, T Cells, Brain, Liver, B Cells

Publications for Noonan Syndrome 5

Articles related to Noonan Syndrome 5:

(show top 50) (show all 150)
# Title Authors Year
1
Optimization of a fragment linking hit toward Dengue and Zika virus NS5 methyltransferases inhibitors. ( 30368131 )
2019
2
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
3
Inhibition of dengue virus infection by small interfering RNAs that target highly conserved sequences in the NS4B or NS5 coding regions. ( 29392497 )
2018
4
Anti-apoptotic activity of Japanese encephalitis virus NS5 protein in human medulloblastoma cells treated with interferon-β. ( 28559152 )
2018
5
Nucleocytoplasmic shuttling of the West Nile virus RNA-dependent RNA polymerase NS5 is critical to infection. ( 29582535 )
2018
6
Inhibition of West Nile virus Replication by Bifunctional siRNA Targeting the NS2A and NS5 Conserved Region. ( 29874999 )
2018
7
The Transactions of NS3 and NS5 in Flaviviral RNA Replication. ( 29845531 )
2018
8
Zika virus NS5 protein potential inhibitors: an enhanced in silico approach in drug discovery. ( 28351337 )
2018
9
Functionalized 2,1-benzothiazine 2,2-dioxides as new inhibitors of Dengue NS5 RNA-dependent RNA polymerase. ( 29137867 )
2018
10
Inhibition of dengue viral infection by diasarone-I is associated with 2'O methyltransferase of NS5. ( 29246851 )
2018
11
Structure and function of Zika virus NS5 protein: perspectives for drug design. ( 29423529 )
2018
12
Glutathionylation of dengue and Zika NS5 proteins affects guanylyltransferase and RNA dependent RNA polymerase activities. ( 29470500 )
2018
13
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
14
Allosteric ligands for the pharmacologically important Flavivirus target (NS5) from ZINC database based on pharmacophoric points, free energy calculations and dynamics correlation. ( 29677482 )
2018
15
A molecular dynamics simulation study decodes the Zika virus NS5 methyltransferase bound to SAH and RNA analogue. ( 29679079 )
2018
16
A panoptic uncovering of the dynamical evolution of the Zika Virus NS5 methyltransferase binding site loops-zeroing in on the molecular landscape. ( 29923677 )
2018
17
High-Quality Draft Single-Cell Genome Sequence of the NS5 Marine Group from the Coastal Red Sea. ( 29930069 )
2018
18
Identification of a Small Interface between the Methyltransferase and RNA Polymerase of NS5 that is Essential for Zika Virus Replication. ( 30478404 )
2018
19
Zika virus NS5 protein antagonizes type I interferon production via blocking TBK1 activation. ( 30530224 )
2018
20
Interactions between the Dengue Virus Polymerase NS5 and Stem-Loop A. ( 28356528 )
2017
21
Discovery of novel dengue virus NS5 methyltransferase non-nucleoside inhibitors by fragment-based drug design. ( 27750202 )
2017
22
Crystal structure of full-length Zika virus NS5 protein reveals a conformation similar to Japanese encephalitis virus NS5. ( 28291746 )
2017
23
Structure of the NS5 methyltransferase from Zika virus and implications in inhibitor design. ( 27866982 )
2017
24
Substrate selectivity of Dengue and Zika virus NS5 polymerase towards 2'-modified nucleotide analogues. ( 28041959 )
2017
25
The crystal structure of Zika virus NS5 reveals conserved drug targets. ( 28254839 )
2017
26
Crystal structure of Zika virus NS5 RNA-dependent RNA polymerase. ( 28345596 )
2017
27
The structure of Zika virus NS5 reveals a conserved domain conformation. ( 28345600 )
2017
28
Structure and function of the Zika virus full-length NS5 protein. ( 28345656 )
2017
29
Inhibition of miR-274-3p increases BmCPV replication by regulating the expression of BmCPV NS5 gene in Bombyx mori. ( 28493152 )
2017
30
Significant inhibition of Tembusu virus envelope and NS5 gene using an adenovirus-mediated short hairpin RNA delivery system. ( 28780191 )
2017
31
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
32
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
33
Looking for inhibitors of the dengue virus NS5 RNA-dependent RNA-polymerase using a molecular docking approach. ( 27784988 )
2016
34
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
35
Potent Allosteric Dengue Virus NS5 Polymerase Inhibitors: Mechanism of Action and Resistance Profiling. ( 27500641 )
2016
36
The Dengue Virus NS5 Protein Intrudes in the Cellular Spliceosome and Modulates Splicing. ( 27575636 )
2016
37
Production of a Recombinant Dengue Virus 2 NS5 Protein and Potential Use as a Vaccine Antigen. ( 27030586 )
2016
38
Dynamic Nucleolar Targeting of Dengue Virus Polymerase NS5 in Response to Extracellular pH. ( 27076639 )
2016
39
An updated evolutionary study of Flaviviridae NS3 helicase and NS5 RNA-dependent RNA polymerase reveals novel invariable motifs as potential pharmacological targets. ( 26864387 )
2016
40
Analysis of worldwide sequence mutations in Zika virus proteins E, NS1, NS3 and NS5 from a structural point of view. ( 27805221 )
2016
41
Phylogenetic analysis of the NS5 gene of Zika virus. ( 27335310 )
2016
42
Expression of the NS5 (VPg) Protein of Murine Norovirus Induces a G1/S Phase Arrest. ( 27556406 )
2016
43
Structures of NS5 Methyltransferase from Zika Virus. ( 27633330 )
2016
44
Structural Insight into NS5 of Zika Virus Leading to the Discovery of MTase Inhibitors. ( 27998085 )
2016
45
The methyltransferase domain of dengue virus protein NS5 ensures efficient RNA synthesis initiation and elongation by the polymerase domain. ( 26578566 )
2016
46
The C-terminal 50 amino acid residues of dengue NS3 protein are important for NS3-NS5 interaction and viral replication. ( 25488659 )
2015
47
Discovery of Multitarget Antivirals Acting on Both the Dengue Virus NS5-NS3 Interaction and the Host Src/Fyn Kinases. ( 26039671 )
2015
48
Perturbation in the conserved methyltransferase-polymerase interface of flavivirus NS5 differentially affects polymerase initiation and elongation. ( 25320292 )
2015
49
Isolation and structural characterization of Coryxin, a novel cyclic lipopeptide from Corynebacterium xerosis NS5 having emulsifying and anti-biofilm activity. ( 26280817 )
2015
50
Inferring Protective CD8+ T-Cell Epitopes for NS5 Protein of Four Serotypes of Dengue Virus Chinese Isolates Based on HLA-A, -B and -C Allelic Distribution: Implications for Epitope-Based Universal Vaccine Design. ( 26381649 )
2015

Variations for Noonan Syndrome 5

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

75 (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
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
14 RAF1 p.Leu613Val VAR_037821 rs80338797

ClinVar genetic disease variations for Noonan Syndrome 5:

6 (show all 16)
# 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.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs397516828 GRCh38 Chromosome 3, 12604188: 12604188
14 RAF1 NM_002880.3(RAF1): c.782C> T (p.Pro261Leu) single nucleotide variant Pathogenic rs397516828 GRCh37 Chromosome 3, 12645687: 12645687
15 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh37 Chromosome 3, 12650341: 12650341
16 RAF1 NM_002880.3(RAF1): c.505G> C (p.Gly169Arg) single nucleotide variant Pathogenic/Likely pathogenic rs886039607 GRCh38 Chromosome 3, 12608842: 12608842

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 protein binding GO:0005515 9.73 CD82 CFAP410 COQ3 DDX23 EIF3L RAF1
2 identical protein binding GO:0042802 9.55 RAF1 RIT2 STAT1 STAT2 TRIM23
3 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 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
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