Noonan Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

NS3 MCID: NNN010 MIFTS: 65	Noonan Syndrome 3 (NS3) Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Noonan Syndrome 3

MalaCards integrated aliases for Noonan Syndrome 3:

Name: Noonan Syndrome 3 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ³⁰ ¹³ ⁶ ¹⁵ ⁷⁴

Ns3 ⁵⁸ ¹² ⁵⁴ ⁷⁶ ¹⁵

Kras Gene Related Noonan Syndrome ⁵⁴

Noonan Syndrome, Type 3 ⁴¹

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

Miscellaneous:
variable features present

HPO:

³³

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: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly associated with short stature

External Ids:

Disease Ontology ¹² DOID:0060581

OMIM ⁵⁸ 609942

MeSH ⁴⁵ D009634

ICD10 ³⁴ Q87.1

MedGen ⁴³ C1860991

UMLS ⁷⁴ C1860991

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Summaries for Noonan Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁶ Noonan syndrome 3: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.

MalaCards based summary : Noonan Syndrome 3, also known as ns3, is related to hepatitis c virus and hepatitis. An important gene associated with Noonan Syndrome 3 is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are Innate Immune System and Response to elevated platelet cytosolic Ca2+. The drugs Ribavirin and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include t cells, skin and b cells, and related phenotypes are cystic hygroma and macrocephaly

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

OMIM : ⁵⁸ Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999). For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (163950), which is caused by mutations in the PTPN11 gene (176876). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11. (609942)

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Related Diseases for Noonan Syndrome 3

Diseases in the Noonan Syndrome 1 family:

Noonan Syndrome 2	Noonan Syndrome 3
Noonan Syndrome 4	Noonan Syndrome 5
Noonan Syndrome 6	Noonan Syndrome 7
Noonan Syndrome 8	Noonan Syndrome 9
Noonan Syndrome 10

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

(show top 50) (show all 64)

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

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

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Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

³³ (show all 24)

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

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Head:
macrocephaly
dolichocephaly
scaphocephaly

Head And Neck Face:
frontal bossing

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

Cardiovascular Heart:
hypertrophic cardiomyopathy
patent ductus arteriosus
atrial septal defect
mitral valve prolapse
ventricular septal defect
more

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

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

Chest External Features:
broad thorax
thorax deformities

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

Head And Neck Mouth:
high palate

Growth Height:
short stature

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Skeletal:
delayed bone age

Skeletal Skull:
craniosynostosis (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum, mild

Neurologic Central Nervous System:
developmental delay, mild to severe (in some patients)

Clinical features from OMIM:

609942

MGI Mouse Phenotypes related to Noonan Syndrome 3:

⁴⁷

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

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Drugs & Therapeutics for Noonan Syndrome 3

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

(show top 50) (show all 56)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Ribavirin

Approved

Phase 4,Phase 3,Phase 2,Phase 1

36791-04-5

37542

Sofosbuvir

Approved

Phase 4,Phase 3,Phase 2

1190307-88-0

45375808

Velpatasvir

Approved, Investigational

Phase 4,Phase 2

1377049-84-7

67683363

Peginterferon alfa-2a

Approved, Investigational

Phase 4,Phase 3,Phase 2

198153-51-4

5360545

Interferon alpha-2

Phase 4,Phase 3,Phase 2

Interferon-alpha

Phase 4,Phase 2,Phase 3,Phase 1

interferons

Phase 4,Phase 3,Phase 2,Phase 1

MK-5172

Phase 4,Phase 3,Phase 2,Phase 1

Antiviral Agents

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1

Liver Extracts

Phase 4,Phase 3,Phase 2

Elbasvir-grazoprevir drug combination

Phase 4,Phase 3,Phase 2,Phase 1

HIV Protease Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1

Antimetabolites

Phase 4,Phase 2,Phase 3,Phase 1

protease inhibitors

Phase 4,Phase 3,Phase 2,Phase 1

Immunologic Factors

Phase 4,Phase 2,Phase 3,Phase 1

Sofosbuvir-velpatasvir drug combination

Phase 4

Iron-Dextran Complex

Phase 4

Ritonavir

Approved, Investigational

Phase 3,Phase 2

155213-67-5

392622

Simeprevir

Approved

Phase 3,Phase 2,Phase 1

923604-59-5

66576988

Ledipasvir

Approved

Phase 2, Phase 3,Phase 3

1256388-51-8

67505836

Peginterferon alfa-2b

Approved

Phase 2, Phase 3,Phase 1

215647-85-1, 99210-65-8

Entecavir

Approved, Investigational

Phase 2, Phase 3

142217-69-4

153941

Tenofovir

Approved, Experimental, Investigational

Phase 2, Phase 3

147127-20-6

464205

Efavirenz

Approved, Investigational

Phase 3

154598-52-4

64139

Anti-HIV Agents

Phase 3,Phase 2

Cytochrome P-450 Enzyme Inhibitors

Phase 3,Phase 2

Cytochrome P-450 CYP3A Inhibitors

Phase 3,Phase 2

Anti-Retroviral Agents

Phase 3,Phase 2

Hepatitis C Antibodies

Phase 2, Phase 3,Phase 1

Ledipasvir, sofosbuvir drug combination

Phase 2, Phase 3,Phase 3

Antibodies

Phase 2, Phase 3

Reverse Transcriptase Inhibitors

Phase 2, Phase 3

Immunoglobulins

Phase 2, Phase 3

Nucleic Acid Synthesis Inhibitors

Phase 2, Phase 3

Raltegravir Potassium

Phase 3

Atazanavir Sulfate

Phase 3

tannic acid

Approved

Phase 2

1401-55-4

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

Triamcinolone

Approved, Vet_approved

Phase 2

124-94-7

31307

Tacrolimus

Approved, Investigational

Phase 2

104987-11-3

6473866 445643 439492

Pharmaceutical Solutions

Phase 2,Phase 1

Vaccines

Phase 2,Phase 1

Brewer's Yeast

Phase 2,Phase 1

Dermatologic Agents

Phase 2

triamcinolone acetonide

Phase 2

Triamcinolone hexacetonide

Phase 2

Cyclosporins

Phase 2

Immunosuppressive Agents

Phase 2

Interventional clinical trials:

(show all 50)

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

Search NIH Clinical Center for Noonan Syndrome 3

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Genetic Tests for Noonan Syndrome 3

Genetic tests related to Noonan Syndrome 3:

#	Genetic test	Affiliating Genes
1	Noonan Syndrome 3 ³⁰	KRAS

Sources

Anatomical Context for Noonan Syndrome 3

MalaCards organs/tissues related to Noonan Syndrome 3:

⁴²

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

Sources

Publications for Noonan Syndrome 3

Articles related to Noonan Syndrome 3:

(show top 50) (show all 1559)

#	Title	Authors	Year
1	Cysteine Disulfide Traps Reveal Distinct Conformational Ensembles in Dengue Virus NS2B-NS3 Protease. ( 30472839 )	Hill ME...Hardy JA	2019
2	Pre-treatment antiviral resistance in Australians with chronic hepatitis C: prevalence of NS3 and NS5A resistance data in the state of New South Wales. ( 31085813 )	Ong AT...Douglas MW	2019
3	Hepatitis C virus core or NS3/4A protein expression preconditions hepatocytes against oxidative stress and endoplasmic reticulum stress. ( 30909829 )	R?os-Ocampo WA...Moshage H	2019
4	IgG1 and IgG4 antibodies against Core and NS3 antigens of hepatitis C virus. ( 30843970 )	Santos VCD...Atta AM	2019
5	Resistance outside the substrate envelope: hepatitis C NS3/4A protease inhibitors. ( 30821513 )	?zen A...Schiffer CA	2019
6	Impact of Preexisting Hepatitis C Virus Genotype 6 NS3, NS5A, and NS5B Polymorphisms on the In Vitro Potency of Direct-Acting Antiviral Agents. ( 30718256 )	McPhee F...Zhou N	2019
7	In Vitro Susceptibility of Hepatitis C Virus Genotype 1 through 6 Clinical Isolates to the Pangenotypic NS3/4A Inhibitor Voxilaprevir. ( 30728196 )	Han B...Dvory-Sobol H	2019
8	Combinations of two drugs among NS3/4A inhibitors, NS5B inhibitors and non-selective antiviral agents are effective for hepatitis C virus with NS5A-P32 deletion in humanized-liver mice. ( 30684016 )	Doi A...Takehara T	2019
9	N-Naphthoyl-substituted indole thio-barbituric acid analogs inhibit the helicase activity of the hepatitis C virus NS3. ( 30578035 )	Marecki JC...Raney KD	2019
10	Phosphonate inhibitors of West Nile virus NS2B/NS3 protease. ( 30362835 )	Skore?ski M...Oleksyszyn J	2019
11	Exploring the Lead Compounds for Zika Virus NS2B-NS3 Protein: an e-Pharmacophore-Based Approach. ( 29911269 )	Rohini K...Ramanathan K	2019
12	Truncated Core/NS3 Fusion Protein of HCV Adjuvanted with Outer Membrane Vesicles of Neisseria meningitidis Serogroup B: Potent Inducer of the Murine Immune System ( 30278608 )	Hekmat S...Siadat SD	2019
13	Analysis of cellular proteome changes in response to ZIKV NS2B-NS3 protease expression. ( 30391636 )	Tangsongcharoen C...Smith DR	2019
14	HCV genotype 1-6 NS3 residue 80 substitutions impact protease inhibitor activity and promote viral escape. ( 30395912 )	Pham LV...Gottwein JM	2019
15	A comparative study of the efficiency of HCV NS3/4A protease drugs against different HCV genotypes using in silico approaches. ( 30528183 )	Ezat AA...Elshemey WM	2019
16	Crystallographic snapshots of the Zika virus NS3 helicase help visualize the reactant water replenishment. ( 30672289 )	Fang J...Gong P	2019
17	Thioguanine-based DENV-2 NS2B/NS3 protease inhibitors: Virtual screening, synthesis, biological evaluation and molecular modelling. ( 30677071 )	Hariono M...Wahab HA	2019
18	Recombinant HCV NS3 and NS5B enzymes exhibit multiple posttranslational modifications for potential regulation. ( 30694421 )	Hern?ndez S...Villanueva RA	2019
19	De Novo Discovery of Nonstandard Macrocyclic Peptides as Noncompetitive Inhibitors of the Zika Virus NS2B-NS3 Protease. ( 30783498 )	Nitsche C...Otting G	2019
20	Quantum Mechanics/Molecular Mechanics (QM/MM) Calculations Support a Concerted Reaction Mechanism for the Zika Virus NS2B/NS3 Serine Protease with Its Substrate. ( 30845796 )	Nutho B...Rungrotmongkol T	2019
21	Targeted mutational analysis to unravel the complexity of African horse sickness virus NS3 function in mammalian cells. ( 30878525 )	Ferreira-Venter L...van Staden V	2019
22	Prevalence of baseline NS3 resistance-associated substitutions (RASs) on treatment with protease inhibitors in patients infected with HCV genotype 1. ( 30880098 )	Costa VD...do Amaral Mello FC	2019
23	Low susceptibility of asunaprevir towards R155K and D168A point mutations in HCV NS3/4A protease: A molecular dynamics simulation. ( 30884449 )	Kammarabutr J...Rungrotmongkol T	2019
24	Discovery, X-ray Crystallography and Antiviral Activity of Allosteric Inhibitors of Flavivirus NS2B-NS3 Protease. ( 31017399 )	Yao Y...Song Y	2019
25	Near Neighbor Interactions in the NS3-4A Protease of HCV Impact Replicative Fitness of Drug-Resistant Viral Variants. ( 31051172 )	Doncheva NT...Welsch C	2019
26	Computational insight into dengue virus NS2B-NS3 protease inhibition: A combined ligand- and structure-based approach. ( 30393100 )	Chen J...Cheng M	2018
27	Cloning and Expression of NS3 Gene of Pakistani Isolate Type 2 Dengue Virus. ( 29978123 )	Yasmin F...Umar S	2018
28	Allostery in the dengue virus NS3 helicase: Insights into the NTPase cycle from molecular simulations. ( 29659571 )	Davidson RB...McCullagh M	2018
29	Sustained Specific and Cross-Reactive T Cell Responses to Zika and Dengue Virus NS3 in West Africa. ( 29321308 )	Herrera BB...Kanki PJ	2018
30	Erratum for Panayiotou et al., "Viperin Restricts Zika Virus and Tick-Borne Encephalitis Virus Replication by Targeting NS3 for Proteasomal Degradation". ( 29844247 )	Panayiotou C...?verby AK	2018
31	Viperin Restricts Zika Virus and Tick-Borne Encephalitis Virus Replication by Targeting NS3 for Proteasomal Degradation. ( 29321318 )	Panayiotou C...?verby AK	2018
32	Functional and physical interaction between the Arf activator GBF1 and hepatitis C virus NS3 protein. ( 30567983 )	Lebsir N...Rouill? Y	2018
33	Identification of novel small molecule inhibitors against the NS3/4A protease of hepatitis C virus genotype 4a. ( 30501598 )	El-Sayed SM...Mohamed MR	2018
34	Evaluating the inhibitory effect of eight compounds from Daphne papyracea against the NS3/4A protease of hepatitis C virus. ( 30449158 )	Wei Y...Zhang JJ	2018
35	Synthesis of Grazoprevir, a Potent NS3/4a Protease Inhibitor for the Treatment of Hepatitis C Virus. ( 30388018 )	Xu F...Devine P	2018
36	Hepatitis C Genotype 4 Virus NS3 and NS5A resistance Associated Substitutions in a 16 Year-Old Adolescent Failing Ombitasvir/Paritaprevir/Ritonavir Plus Ribavirin. ( 30204659 )	Serranti D...Resti M	2018
37	NS3 Variability in Hepatitis C Virus Genotype 1A Isolates from Liver Tissue and Serum Samples of Treatment-Naïve Patients with Chronic Hepatitis C. ( 30021203 )	D'Aliberti D...Pollicino T	2018
38	GP205, a new hepatitis C virus NS3/4A protease inhibitor, displays higher metabolic stability in vitro and drug exposure in vivo. ( 29930277 )	Zhai PB...Chen L	2018
39	Prevalence of naturally occurring amino acid substitutions associated with resistance to hepatitis C virus NS3/NS4A protease inhibitors in São Paulo state. ( 29961118 )	Moreira RC...Pinho JRR	2018
40	Prevalence of Single and Multiple Natural NS3, NS5A and NS5B Resistance-Associated Substitutions in Hepatitis C Virus Genotypes 1-4 in Italy. ( 29895871 )	Bertoli A...HCV Virology Italian Resistance Network (VIRONET-C)	2018
41	NAP1L1 Regulates Hepatitis C Virus Entry and Interacts with NS3. ( 29541944 )	Yin P...Zhang L	2018
42	Potent Inhibitors of Hepatitis C Virus NS3 Protease: Employment of a Difluoromethyl Group as a Hydrogen-Bond Donor. ( 29456803 )	Zheng B...Scola PM	2018
43	Pan-NS3 protease inhibitors of hepatitis C virus based on an R3-elongated pyrazinone scaffold. ( 29477077 )	Belfrage AK...Sandstr?m A	2018
44	Efficacy, safety and patient-reported outcomes of ledipasvir/sofosbuvir in NS3/4A protease inhibitor-experienced individuals with hepatitis C virus genotype 1 and HIV coinfection with and without cirrhosis (ANRS HC31 SOFTRIH study). ( 29214737 )	Rosenthal E...ANRS HC31 SOFTRIH Study Group	2018
45	NS3 from Hepatitis C Virus Strain JFH-1 Is an Unusually Robust Helicase That Is Primed To Bind and Unwind Viral RNA. ( 29070684 )	Zhou T...Pyle AM	2018
46	Retreatment With Sofosbuvir Plus Grazoprevir/Elbasvir Plus Ribavirin of Patients With Hepatitis C Virus Genotype 1 or 4 Who Previously Failed an NS5A- or NS3-Containing Regimen: The ANRS HC34 REVENGE Study. ( 29077864 )	de L?dinghen V...Pawlotsky JM	2018
47	In Vitro Antiviral Activity and Resistance Profile of the Next-Generation Hepatitis C Virus NS3/4A Protease Inhibitor Glecaprevir. ( 29084747 )	Ng TI...Collins C	2018
48	Identification of a 3-Alkylpyridinium Compound from the Red Sea Sponge Amphimedon chloros with In Vitro Inhibitory Activity against the West Nile Virus NS3 Protease. ( 29912151 )	O'Rourke A...Voolstra CR	2018
49	Breathing new life into West Nile virus therapeutics; discovery and study of zafirlukast as an NS2B-NS3 protease inhibitor. ( 30193218 )	Martinez AA...Salzameda NT	2018
50	Broad-spectrum catalytic metallopeptide inactivators of Zika and West Nile virus NS2B/NS3 proteases. ( 30324214 )	Pinkham AM...Cowan JA	2018

Sources

Genes for Noonan Syndrome 3

Genes related to Noonan Syndrome 3 (6 elite genes):

(show all 46)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1331.2	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	16773572 20301303 20876176 (more) 16474405 19396835 17468812 18386799 22211815 20301365 20963938 22138009 23970018 16474404
2	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	418.63	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301303 20876176
3	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	417.59	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301303 20876176
4	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	417.59	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301303 20876176
5	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	417.25	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301303 20876176
6	SHOC2	SHOC2 Leucine Rich Repeat Scaffold Protein	Protein Coding	417.25	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	20301303 20876176
7	MAVS	Mitochondrial Antiviral Signaling Protein	Protein Coding	18.03	DISEASES inferred ¹⁵
8	LRRC56	Leucine Rich Repeat Containing 56	Protein Coding	17.59	GeneCards inferred via : Variants (show sections)
9	IFNL3	Interferon Lambda 3	Protein Coding	17.38	DISEASES inferred ¹⁵
10	DDX58	DExD/H-Box Helicase 58	Protein Coding	17.22	DISEASES inferred ¹⁵
11	CD81	CD81 Molecule	Protein Coding	16.98	DISEASES inferred ¹⁵
12	IRF3	Interferon Regulatory Factor 3	Protein Coding	16.91	DISEASES inferred ¹⁵
13	IFNB1	Interferon Beta 1	Protein Coding	16.19	DISEASES inferred ¹⁵
14	MIR7-3HG	MIR7-3 Host Gene	RNA Gene	8.01	DISEASES inferred ¹⁵
15	RIT2	Ras Like Without CAAX 2	Protein Coding	7.15	DISEASES inferred ¹⁵
16	SENP8	SUMO Peptidase Family Member, NEDD8 Specific	Protein Coding	6.31	DISEASES inferred ¹⁵
17	IFNA1	Interferon Alpha 1	Protein Coding	6.18	DISEASES inferred ¹⁵
18	LSG1	Large 60S Subunit Nuclear Export GTPase 1	Protein Coding	6.01	DISEASES inferred ¹⁵
19	NRBP1	Nuclear Receptor Binding Protein 1	Protein Coding	5.93	DISEASES inferred ¹⁵
20	PRB2	Proline Rich Protein BstNI Subfamily 2	Protein Coding	5.78	DISEASES inferred ¹⁵
21	PPIA	Peptidylprolyl Isomerase A	Protein Coding	5.74	DISEASES inferred ¹⁵
22	RNF135	Ring Finger Protein 135	Protein Coding	5.73	DISEASES inferred ¹⁵
23	TLR3	Toll Like Receptor 3	Protein Coding	5.61	DISEASES inferred ¹⁵
24	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	5.58	DISEASES inferred ¹⁵
25	PPP2R3B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	5.53	DISEASES inferred ¹⁵
26	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	5.53	DISEASES inferred ¹⁵
27	CES1	Carboxylesterase 1	Protein Coding	5.48	DISEASES inferred ¹⁵
28	DNAJC14	DnaJ Heat Shock Protein Family (Hsp40) Member C14	Protein Coding	5.48	DISEASES inferred ¹⁵
29	BCL2L10	BCL2 Like 10	Protein Coding	5.47	DISEASES inferred ¹⁵
30	ITPA	Inosine Triphosphatase	Protein Coding	5.45	DISEASES inferred ¹⁵
31	BMPER	BMP Binding Endothelial Regulator	Protein Coding	5.37	DISEASES inferred ¹⁵
32	RSAD2	Radical S-Adenosyl Methionine Domain Containing 2	Protein Coding	5.36	DISEASES inferred ¹⁵
33	PI4KA	Phosphatidylinositol 4-Kinase Alpha	Protein Coding	5.32	DISEASES inferred ¹⁵
34	TBK1	TANK Binding Kinase 1	Protein Coding	5.3	DISEASES inferred ¹⁵
35	TRIM25	Tripartite Motif Containing 25	Protein Coding	5.23	DISEASES inferred ¹⁵
36	PI4KB	Phosphatidylinositol 4-Kinase Beta	Protein Coding	5.19	DISEASES inferred ¹⁵
37	STAT2	Signal Transducer And Activator Of Transcription 2	Protein Coding	5.18	DISEASES inferred ¹⁵
38	IFNL1	Interferon Lambda 1	Protein Coding	5.14	DISEASES inferred ¹⁵
39	DDX3X	DEAD-Box Helicase 3 X-Linked	Protein Coding	5.07	DISEASES inferred ¹⁵
40	NLE1	Notchless Homolog 1	Protein Coding	5.02	DISEASES inferred ¹⁵
41	RNASE3	Ribonuclease A Family Member 3	Protein Coding	4.95	DISEASES inferred ¹⁵
42	SMIM1	Small Integral Membrane Protein 1 (Vel Blood Group)	Protein Coding	4.93	DISEASES inferred ¹⁵
43	MOSPD3	Motile Sperm Domain Containing 3	Protein Coding	4.91	DISEASES inferred ¹⁵
44	TOMM70	Translocase Of Outer Mitochondrial Membrane 70	Protein Coding	4.9	DISEASES inferred ¹⁵
45	IFIH1	Interferon Induced With Helicase C Domain 1	Protein Coding	4.88	DISEASES inferred ¹⁵
46	CSPG5	Chondroitin Sulfate Proteoglycan 5	Protein Coding	4.86	DISEASES inferred ¹⁵

Sources

Variations for Noonan Syndrome 3

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

⁷⁶

#	Symbol	AA change	Variation ID	SNP ID
1	KRAS	p.Val14Ile	VAR_026109	rs104894365
2	KRAS	p.Thr58Ile	VAR_026111	rs104894364
3	KRAS	p.Gln22Arg	VAR_064851	rs727503110
4	KRAS	p.Pro34Leu	VAR_064852	rs104894366
5	KRAS	p.Pro34Gln	VAR_064853
6	KRAS	p.Ile36Met	VAR_064854	rs727503109
7	KRAS	p.Lys5Glu	VAR_065144	rs193929331
8	KRAS	p.Gly60Ser	VAR_065146	rs104894359

ClinVar genetic disease variations for Noonan Syndrome 3:

⁶ (show top 50) (show all 68)

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

Sources

Expression for Noonan Syndrome 3

Search GEO for disease gene expression data for Noonan Syndrome 3.

Sources

Pathways for Noonan Syndrome 3

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

(show top 50) (show all 93)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁷ Show member pathways Immune System ⁶⁷ Neutrophil degranulation ⁶⁷	14.09	CD81 DDX58 HRAS IFNA1 IFNB1 IFNL3
2	Response to elevated platelet cytosolic Ca2+ ⁶⁷ Show member pathways Disinhibition of SNARE formation ⁶⁷ Hemostasis ⁶⁷ Platelet activation, signaling and aggregation ⁶⁷ Platelet degranulation ⁶⁷	13.35	HRAS IFNA1 IFNB1 IRF3 KRAS PTPN11
3	Cytokine Signaling in Immune system ⁶⁷ Show member pathways Signaling by Interleukins ⁶⁷	13.27	DDX58 HRAS IFNA1 IFNB1 IFNL3 IRF3
4	PI3K-Akt signaling pathway ³⁸ Show member pathways Human papillomavirus infection ³⁸	12.97	HRAS IFNA1 IFNB1 IRF3 KRAS RAF1
5	Regulation of lipid metabolism Insulin signaling-generic cascades ²³ Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²³ Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²³ Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²³ ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁸ IRS activation ⁶⁷ Signal attenuation ⁶⁷ Transcription Receptor-mediated HIF regulation ²³ Translation Regulation of EIF2 activity ²³ Translation Regulation of EIF4F activity ²³ Translation Insulin regulation of translation ²³	12.94	HRAS KRAS PTPN11 RAF1 SOS1
6	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.9	HRAS KRAS PTPN11 RAF1 SOS1
7	Pathways in cancer ³⁸	12.88	HRAS IFNA1 KRAS RAF1 SOS1
8	Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁶ Show member pathways Adipokines and Insulin Signaling Pathways ⁶⁶ Development Thrombopoietin-regulated cell processes ²³ IL-15 Signaling Pathways ⁶⁶ IL-2 Signaling Pathways ⁶⁶ IL-21 Signaling Pathways ⁶⁶ IL-4 Signaling Pathways ⁶⁶ IL-7 Signaling Pathways ⁶⁶ IL-9 Pathway ⁶⁵ IL-9 Signaling Pathways ⁶⁶ Immune response IL-9 signaling pathway ²³	12.82	HRAS KRAS PTPN11 RAF1 SOS1
9	RIG-I/MDA5 mediated induction of IFN-alpha/beta pathways ⁶⁷ Show member pathways Cytosolic DNA-sensing pathway ³⁸ Immune response TLR3 and TLR4 induce TICAM1-specific signaling pathway ²³ Negative regulators of RIG-I/MDA5 signaling ⁶⁷ NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10 ⁶⁷ RIG-I-like Receptor Signaling ¹ RIG-I-like receptor signaling pathway ³⁸ TRAF3-dependent IRF activation pathway ⁶⁷ TRAF6 mediated IRF7 activation ⁶⁷ Virus Detection and Induction of Antiviral Signaling Pathways by RIG-I-like Receptors (RLR) ⁶⁶	12.78	DDX58 IFNA1 IFNB1 IFNL3 IRF3 MAVS
10	Development HGF signaling pathway ²³ Show member pathways Apoptosis and survival Anti-apoptotic action of membrane-bound ESR1 ²³ Apoptosis and survival NGF signaling pathway ²³ Apoptosis and survival Role of CDK5 in neuronal death and survival ²³ Development Neurotrophin family signaling ²³ MET activates PTPN11 ⁶⁷ MET activates STAT3 ⁶⁷ Neurotrophin signaling pathway ³⁸ Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met) ¹ Signaling of Hepatocyte Growth Factor Receptor ¹	12.77	HRAS KRAS PTPN11 RAF1 SOS1
11	Human cytomegalovirus infection ³⁸ Show member pathways Human immunodeficiency virus 1 infection ³⁸ Kaposi sarcoma-associated herpesvirus infection ³⁸	12.77	DDX58 HRAS IFNA1 IFNB1 IRF3 KRAS
12	Ras signaling pathway ³⁸ Show member pathways Rap1 signaling pathway ³⁸	12.74	HRAS KRAS PTPN11 RAF1 SHOC2 SOS1
13	ErbB signaling pathway ¹ ³⁸ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶² EGFR tyrosine kinase inhibitor resistance ³⁸ Renal cell carcinoma ³⁸ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.63	HRAS KRAS PTPN11 RAF1 SOS1
14	T cell receptor signaling pathway ³⁸ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁸ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.59	HRAS KRAS PTPN11 RAF1 SOS1
15	Interferon gamma signaling ⁶⁷ Show member pathways Interferon Signaling ⁶⁷ Regulation of IFNG signaling ⁶⁷	12.58	DDX58 IFNA1 IFNB1 IRF3 PTPN11
16	Immune response Fc epsilon RI pathway ²³ Show member pathways Fc epsilon RI signaling pathway ³⁸ Fc-epsilon receptor I signaling in mast cells ¹ Immune response BCR pathway ²³ VEGF signaling pathway ³⁸	12.58	CD81 HRAS KRAS PTPN11 RAF1 SOS1
17	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.55	HRAS PTPN11 RAF1 SOS1
18	MicroRNAs in cancer ³⁸	12.54	HRAS KRAS RAF1 SOS1
19	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.53	HRAS KRAS RAF1 SOS1
20	Prolactin Signaling Pathway ¹ ³⁸ Show member pathways Development Prolactin receptor signaling ²³ Leptin signaling pathway ¹	12.53	HRAS KRAS PTPN11 RAF1 SOS1
21	MET promotes cell motility ⁶⁷ Show member pathways Alpha 6 Beta 4 signaling pathway ¹ Laminin interactions ⁶⁷ MET activates PTK2 signaling ⁶⁷ MET activates RAP1 and RAC1 ⁶⁷ MET activates RAS signaling ⁶⁷ MET interacts with TNS proteins ⁶⁷ MET Receptor Activation ⁶⁷ MET receptor recycling ⁶⁷ Non-integrin membrane-ECM interactions ⁶⁷ Signaling by MET ⁶⁷ Syndecan interactions ⁶⁷	12.51	HRAS KRAS PTPN11 SOS1
22	Development FGFR signaling pathway ²³ Show member pathways Development FGF-family signaling ²³ Development Flt3 signaling ²³ FGF Pathway ⁶⁵	12.48	HRAS KRAS PTPN11 RAF1 SOS1
23	VEGF Pathway (Qiagen) ⁶⁵ Show member pathways CCKBR-Gastrin Stimulated Signaling ⁶⁵ Development VEGF-family signaling ²³ Neurophilin interactions with VEGF and VEGFR ⁶⁷ VEGF Family Ligands and Receptor Interactions ⁶⁵	12.46	HRAS IRF3 KRAS RAF1 SOS1
24	Development IGF-1 receptor signaling ²³ Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²³ Signal transduction AKT signaling ²³	12.44	HRAS PTPN11 RAF1 SOS1
25	Phospholipase D signaling pathway ³⁸ Show member pathways Choline metabolism in cancer ³⁸	12.43	HRAS KRAS PTPN11 RAF1 SOS1
26	Development VEGF signaling via VEGFR2 - generic cascades ²³ Show member pathways Development VEGF signaling and activation ²³ VEGF - VEGF R2 Signaling Pathways ⁶⁶	12.42	HRAS KRAS PTPN11 RAF1 SOS1
27	CNTF Signaling ⁶⁵ Show member pathways FLT3 Signaling ⁶⁵ IL-3 Pathway ⁶⁵ Nur77-Induced AICD in Macrophage ⁶⁵ OSM Pathway ⁶⁵	12.38	HRAS KRAS RAF1 SOS1
28	B Cell Receptor Signaling Pathway (sino) ⁶⁸ Show member pathways T Cell Receptor Signaling Pathway ⁶⁸	12.37	HRAS KRAS PTPN11 RAF1
29	Toll Comparative Pathway ⁶⁵ Show member pathways IL-1 Pathway ⁶⁵ Immune response MIF in innate immunity response ²³ iNOS Signaling ⁶⁵ TLR-TRIF Pathway ⁶⁵	12.35	HRAS IRF3 PTPN11 RAF1 SOS1
30	B cell receptor signaling pathway (KEGG) ³⁸ Show member pathways B Cell Receptor Signaling Pathway ¹ BCR signaling pathway ¹	12.34	CD81 HRAS KRAS PTPN11 RAF1 SOS1
31	Signaling by FGFR2 ⁶⁷ Show member pathways FGFR2 ligand binding and activation ⁶⁷ FGFR2b ligand binding and activation ⁶⁷ Signaling by FGFR ⁶⁷	12.32	HRAS KRAS PTPN11 SOS1
32	Immune response IFN alpha/beta signaling pathway ²³ Show member pathways Cytokine Network ⁶⁵ Interferon alpha/beta signaling ⁶⁷ Regulation of IFNA signaling ⁶⁷	12.31	IFNA1 IFNB1 IRF3 KRAS PTPN11
33	Axon guidance ³⁸	12.29	HRAS KRAS PTPN11 RAF1
34	Cell surface interactions at the vascular wall ⁶⁷ Show member pathways Fibronectin matrix formation ⁶⁷ PECAM1 interactions ⁶⁷ Tie2 Signaling ⁶⁷	12.28	HRAS KRAS PTPN11 SOS1
35	VEGF Signaling Pathway ⁶⁸ ⁶² Show member pathways Nanoparticle-mediated activation of receptor signaling ¹ TGF-beta Signaling ⁶⁸	12.28	HRAS KRAS RAF1 SOS1
36	Proteoglycans in cancer ³⁸	12.28	HRAS KRAS PTPN11 RAF1 SOS1
37	Immune response Role of DAP12 receptors in NK cells ²³ Show member pathways Immune response CD16 signaling in NK cells ²³ Natural killer cell mediated cytotoxicity ³⁸	12.28	HRAS IFNA1 IFNB1 KRAS PTPN11 RAF1
38	C-type lectin receptor signaling pathway ³⁸ Show member pathways Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁶	12.26	HRAS KRAS PTPN11 RAF1
39	G-protein signaling Ras family GTPases in kinase cascades (scheme) ²³ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁷ Immune response Oncostatin M signaling via MAPK in human cells ²³ MAPK Cascade ¹ Oncostatin M Signaling Pathway ¹	12.26	HRAS KRAS PTPN11 RAF1 SOS1
40	GDNF-Family Ligands and Receptor Interactions ⁶⁵ Show member pathways BDNF Pathway ⁶⁵ Development GDNF family signaling ²³	12.25	HRAS KRAS RAF1 SOS1
41	Kit receptor signaling pathway ¹ Show member pathways IL-3 Signaling Pathway ¹ Signaling events mediated by Stem cell factor receptor (c-Kit) ¹	12.23	HRAS PTPN11 RAF1 SOS1
42	NGF Pathway ⁶⁵ Show member pathways TRKA Signaling ⁶⁵	12.19	HRAS KRAS RAF1 SOS1
43	EGF/EGFR Signaling Pathway ¹	12.17	HRAS KRAS PTPN11 RAF1 SOS1
44	FoxO signaling pathway ³⁸ Show member pathways PLK2 and PLK4 events ¹ Polo-like kinase signaling events in the cell cycle ¹	12.14	HRAS KRAS RAF1 SOS1
45	Development EGFR signaling via small GTPases ²³ Show member pathways Development EGFR signaling via PIP3 ²³ Development PDGF signaling via MAPK cascades ²³ PDGF Pathway ¹	12.12	HRAS KRAS PTPN11 RAF1 SOS1
46	IL-2 Signaling Pathway ¹ Show member pathways IL2-mediated signaling events ¹ IL-5 Signaling Pathway ¹	12.06	HRAS KRAS PTPN11 RAF1 SOS1
47	Immune response IL-2 activation and signaling pathway ²³ Show member pathways Immune response IL-3 activation and signaling pathway ²³	12.01	HRAS PTPN11 RAF1 SOS1
48	Glioblastoma Multiforme ⁶⁵	12.01	HRAS KRAS RAF1 SOS1
49	Signaling by ERBB4 ⁶⁷ Show member pathways Downregulation of ERBB4 signaling ⁶⁷ ErbB4 signaling events ¹ Nuclear signaling by ERBB4 ⁶⁷	11.98	HRAS KRAS SOS1
50	Senescence and Autophagy in Cancer ¹	11.97	HRAS IFNB1 RAF1

Sources

GO Terms for Noonan Syndrome 3

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

(show all 23)

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

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

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

Sources

Sources for Noonan Syndrome 3

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Noonan Syndrome 3 (NS3)

Aliases & Classifications for Noonan Syndrome 3

MalaCards integrated aliases for Noonan Syndrome 3:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Noonan Syndrome 3

Related Diseases for Noonan Syndrome 3

Diseases in the Noonan Syndrome 1 family:

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

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

Symptoms & Phenotypes for Noonan Syndrome 3

Human phenotypes related to Noonan Syndrome 3:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

MGI Mouse Phenotypes related to Noonan Syndrome 3:

Drugs & Therapeutics for Noonan Syndrome 3

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

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Genetic Tests for Noonan Syndrome 3

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Anatomical Context for Noonan Syndrome 3

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Genes related to Noonan Syndrome 3 (6 elite genes):

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ClinVar genetic disease variations for Noonan Syndrome 3:

Expression for Noonan Syndrome 3

Pathways for Noonan Syndrome 3

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

GO Terms for Noonan Syndrome 3

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

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

Sources for Noonan Syndrome 3