MCID: NNN012
MIFTS: 34

Noonan Syndrome 5

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

Aliases & Classifications for Noonan Syndrome 5

MalaCards integrated aliases for Noonan Syndrome 5:

Name: Noonan Syndrome 5 57 12 53 75 29 13 6 73
Ns5 57 12 53 75
Raf1 Gene Related Noonan Syndrome 53
Noonan Syndrome, Type 5 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable features may be present


HPO:

32
noonan syndrome 5:
Inheritance autosomal dominant inheritance


Classifications:



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 dengue virus and encephalitis. An important gene associated with Noonan Syndrome 5 is RAF1 (Raf-1 Proto-Oncogene, Serine/Threonine Kinase). The drugs Ribavirin and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and skin, and related phenotypes are webbed neck and short neck

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

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 5 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)
# Related Disease Score Top Affiliating Genes
1 dengue virus 10.4
2 encephalitis 10.4
3 japanese encephalitis 10.2
4 yellow fever 10.2
5 tick-borne encephalitis 10.1
6 hepatitis c virus 10.1
7 hepatitis 10.1
8 hepatitis c 10.1
9 type i 10.1
10 west nile virus 9.9
11 murray valley encephalitis 9.9
12 omsk hemorrhagic fever 9.8
13 hemorrhagic fever 9.8

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

GenitourinaryInternal GenitaliaMale:
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 8)
# Description HPO Frequency HPO Source Accession
1 webbed neck 32 very rare (1%) HP:0000465
2 short neck 32 HP:0000470
3 abnormality of the sternum 32 HP:0000766
4 global developmental delay 32 HP:0001263
5 atrial septal defect 32 very rare (1%) HP:0001631
6 hypertrophic cardiomyopathy 32 very rare (1%) HP:0001639
7 abnormal facial shape 32 HP:0001999
8 short stature 32 very rare (1%) HP:0004322

Drugs & Therapeutics for Noonan Syndrome 5

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

(show top 50) (show all 66)
# 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
Ledipasvir Approved Phase 4,Phase 2,Phase 3,Phase 1 1256388-51-8 67505836
4
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
5
Morphine Approved, Investigational Phase 4 57-27-2 5288826
6
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
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 Liver Extracts Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Ledipasvir, sofosbuvir drug combination Phase 4,Phase 2,Phase 3
14 Analgesics Phase 4,Not Applicable
15 Analgesics, Opioid Phase 4,Not Applicable
16 Central Nervous System Depressants Phase 4,Not Applicable
17 Narcotics Phase 4,Not Applicable
18 Peripheral Nervous System Agents Phase 4,Not Applicable
19 Iron-Dextran Complex Phase 4
20 Adjuvants, Anesthesia Phase 4
21 Anesthetics Phase 4
22 Anesthetics, General Phase 4
23 Anesthetics, Intravenous Phase 4
24 Anesthetics, Local Phase 4
25
Simeprevir Approved Phase 3,Phase 2,Phase 1 923604-59-5 66576988
26
Ritonavir Approved, Investigational Phase 3,Phase 2,Phase 1 155213-67-5 392622
27
Peginterferon alfa-2a Approved, Investigational Phase 3,Phase 2 198153-51-4 5360545
28
Entecavir Approved, Investigational Phase 2, Phase 3 142217-69-4 153941
29 Interferon-alpha Phase 3,Phase 2,Phase 1
30 interferons Phase 3,Phase 2,Phase 1
31 Anti-HIV Agents Phase 3,Phase 2,Phase 1
32 Anti-Retroviral Agents Phase 3,Phase 2,Phase 1
33 Cytochrome P-450 CYP3A Inhibitors Phase 3,Phase 2,Phase 1
34 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2,Phase 1
35 Hepatitis C Antibodies Phase 2, Phase 3,Phase 1
36 Antibodies Phase 2, Phase 3
37 Immunoglobulins Phase 2, Phase 3
38 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3
39 Reverse Transcriptase Inhibitors Phase 2, Phase 3
40
Tenofovir Phase 2, Phase 3 147127-20-6 464205
41
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
42
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
43 Antioxidants Phase 2
44 Protective Agents Phase 2
45 Silybin Phase 2
46 Pharmaceutical Solutions Phase 2,Phase 1
47 Antifungal Agents Phase 2
48 Antirheumatic Agents Phase 2
49 Calcineurin Inhibitors Phase 2
50 Cyclosporins Phase 2

Interventional clinical trials:

(show top 50) (show all 93)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Sofosbuvir+Ribavirin in Genotype 2 HCV-infected U.S. Veterans With Cirrhosis Completed NCT02128542 Phase 4 Sofosbuvir;RBV
2 Exploring Renal Transplants Using Hepatitis C Infected Donors for HCV-negative Recipients Completed NCT02781649 Phase 4 Zepatier;Ribavirin;Sofosbuvir
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 deLIVER: Direct Acting Antiviral Effects on the Liver Active, not recruiting NCT02938013 Phase 4 Sofosbuvir/Velpatasvir/Voxilaprevir [SOF/VEL/VOX];Sofosbuvir/Velpatasvir (SOF/VEL)
7 LIVE-C-Free: Early and Late Treatment of Hepatitis C With Sofosbuvir/Ledipasvir in Liver Transplant Recipients Active, not recruiting NCT02631772 Phase 4 Sofosbuvir/Ledipasvir x 12 weeks;Sofosbuvir/Ledipasvir + Ribavirin x 12 weeks
8 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)
9 Efficacy and Tolerability of Grazoprevir and Elbasvir in Peginterferon Alfa Plus Ribavirin Experienced Patients With Chronic Genotype 1 HCV and HIV Co-infection: a Non-randomised, Open-label Clinical Trial Not yet recruiting NCT03098121 Phase 4 grazoprevir and elbasvir
10 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]
11 Intrathecal Morphine Analgesia vs. Continuous Epidural Analgesia vs. Systemic Analgesia in Colorectal Surgery. Not yet recruiting NCT03007121 Phase 4 Morphine intrathecal;Bupivacaine + Sufentanil epidural;Morphine intravenous
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 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
15 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
16 SOF Plus DCV in Treating Chinese Treatment-experienced HCV Patients Completed NCT02473211 Phase 2, Phase 3 Sofosbuvir;Daclatasvir
17 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
18 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
19 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
20 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
21 Daclatasvir, Asunaprevir Plus Ribavirin for HCV Genotype 1b Without NS5A RAV Recruiting NCT03004625 Phase 3 daclatasvir;asunaprevir;Ribavirin
22 Trial of Simplified Treatment Monitoring for 8 Weeks Glecaprevir/Pibrentasvir in Chronic Hepatitis C Patients Recruiting NCT03117569 Phase 3 glecaprevir (300mg)/pibrentasvir (120mg)
23 8 Weeks Versus 12 Weeks of Elbasvir/Grazoprevir in Treatment-naïve CHC With Mild Fibrosis Recruiting NCT03186365 Phase 3 Zepatier Oral Product
24 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
25 Multi-Center, Randomized, Open-Label Study of G/P +/- RBV for NS5A + SOF Previously Treated GT1 HCV Subjects Active, not recruiting NCT03092375 Phase 3 Glecaprevir/Pibrentasvir (G/P) 300mg/120mg;Ribavirin 200Mg Tablet
26 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
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 THISTLE - The HIV-HCV Silibinin Trial Completed NCT01816490 Phase 2 Intravenous Silibinin (iSIL)
35 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
36 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
37 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)
38 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) Completed NCT00851890 Phase 2 ABT-333;Pegylated interferon;Ribavirin
39 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
40 Efficacy and Safety of Combinations of AL-335, Odalasvir (ODV) and Simeprevir (SMV) in the Treatment of Chronic Hepatitis C Infection Completed NCT02765490 Phase 2 AL-335;Odalasvir;Simeprevir
41 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
42 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)
43 A Study of Pharmacokinetics, Efficacy, Safety, Tolerability, of the Combination of Simeprevir (TMC435), Daclatasvir (BMS-790052), and Ribavirin (RBV) in Patients With Recurrent Chronic Hepatitis C Genotype 1b Infection After Orthotopic Liver Transplantati Completed NCT01938625 Phase 2 Simeprevir;Daclatasvir;Ribavirin;Cyclosporine;Tacrolimus
44 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
45 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
46 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
47 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
48 Autologous Dendritic Cell Vaccine for Treatment of Patients With Chronic HCV-Infection Recruiting NCT03119025 Phase 1, Phase 2
49 Viral Kinetics, Interferon Stimulated Genes (ISGs) and mirRNA Among Subjects Infected With Different Hepatitis C Virus Genotypes During Therapy With Sofosbuvir and GS-5816 Recruiting NCT02468648 Phase 2 Sofosbuvir;GS-5816
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 29 RAF1

Anatomical Context for Noonan Syndrome 5

MalaCards organs/tissues related to Noonan Syndrome 5:

41
Liver, Heart, Skin, Testes

Publications for Noonan Syndrome 5

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 Pathogenic rs80338799 GRCh37 Chromosome 3, 12627244: 12627244
6 RAF1 NM_002880.3(RAF1): c.1472C> G (p.Thr491Arg) single nucleotide variant 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

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
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38 LifeMap
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42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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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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