MCID: PLM041
MIFTS: 49

Pulmonary Valve Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Pulmonary Valve Stenosis

MalaCards integrated aliases for Pulmonary Valve Stenosis:

Name: Pulmonary Valve Stenosis 12 74 52 54 6 43 15 17 71 32
Valvular Pulmonary Stenosis 52 58
Heart Valve Pulmonary Stenosis 52
Valvate Pulmonary Stenosis 52
Valvar Pulmonary Stenosis 52
Pulmonary Stenosis 71

Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:6420
MeSH 43 D011666
SNOMED-CT 67 56786000
ICD10 32 I37.0 I37.2
MESH via Orphanet 44 D011666
ICD10 via Orphanet 33 Q22.1
UMLS via Orphanet 72 C0034089
Orphanet 58 ORPHA99054
UMLS 71 C0034089 C1956257

Summaries for Pulmonary Valve Stenosis

MalaCards based summary : Pulmonary Valve Stenosis, also known as valvular pulmonary stenosis, is related to pulmonic stenosis and ventricular septal defect. An important gene associated with Pulmonary Valve Stenosis is PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11), and among its related pathways/superpathways are Developmental Biology and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Dobutamine and Adrenergic beta-Agonists have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and testes, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 74 Pulmonary valve stenosis (PVS) is a heart valve disorder. Blood going from the heart to the lungs goes... more...

Related Diseases for Pulmonary Valve Stenosis

Diseases related to Pulmonary Valve Stenosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 139)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 32.4 SOS1 PTPN11 MAP2K2 MAP2K1 JAG1 GATA4
2 ventricular septal defect 30.7 TBX5 NKX2-5 JAG1 GATA4
3 atrial standstill 1 30.3 SCN5A RBM20 GATA4
4 noonan syndrome 1 29.9 SOS2 SOS1 SHOC2 RASA2 PTPN11 MIR1304
5 tricuspid atresia 29.9 TBX5 NKX2-5 GATA4
6 aortic valve disease 2 29.5 TBX5 NKX2-5 GATA4 FBN1
7 double outlet right ventricle 29.4 TBX5 TBX2 NKX2-5 GATA4 CFC1
8 heart septal defect 29.1 TBX5 TBX2 SOS1 SHOC2 PTPN11 NKX2-5
9 patent foramen ovale 29.0 TBX5 TBX2 PTPN11 NKX2-5 GATA4 FBN1
10 hypoplastic left heart syndrome 29.0 TBX5 TBX2 NKX2-5 JAG1 GATA4 CFC1
11 noonan syndrome with multiple lentigines 28.0 TBX5 SOS2 SOS1 SHOC2 SCN5A RASA2
12 patent ductus arteriosus 1 27.8 TBX5 SOS1 SHOC2 PTPN11 NKX2-5 JAG1
13 hypertrophic cardiomyopathy 27.4 SOS2 SOS1 SHOC2 SCN5A RBM20 PTPN11
14 atrial heart septal defect 27.3 TBX5 TBX2 SOS1 SHOC2 SCN5A PTPN11
15 tetralogy of fallot 27.2 TBX5 TBX2 SOS1 SCN5A PTPN11 NKX2-5
16 heart disease 26.7 TBX5 TBX2 SOS1 SCN5A PTPN11 NKX2-5
17 keipert syndrome 11.4
18 vertebral anomalies and variable endocrine and t-cell dysfunction 11.4
19 kleefstra syndrome 11.4
20 pulmonary valve insufficiency 10.5
21 cyanosis, transient neonatal 10.5
22 tricuspid valve insufficiency 10.4
23 rare congenital non-syndromic heart malformation 10.3 TBX5 JAG1
24 villonodular synovitis 10.3 SOS1 PTPN11
25 abnormal hair, joint laxity, and developmental delay 10.3 PTPN11 JAG1
26 pulmonary atresia with intact ventricular septum 10.2
27 congestive heart failure 10.2
28 eisenmenger syndrome 10.1 NKX2-5 GATA4
29 noonan syndrome 3 10.1 SOS1 SHOC2 PTPN11
30 endocarditis 10.1
31 syncope 10.1
32 cardiomyopathy, dilated, 1e 10.1 SCN5A RBM20 NKX2-5
33 cor triatriatum 10.1
34 hypoplastic right heart syndrome 10.1 TBX5 NKX2-5
35 sinoatrial node disease 10.1 TBX5 SCN5A NKX2-5
36 enterocolitis 10.1
37 polycythemia 10.1
38 perinatal necrotizing enterocolitis 10.1
39 pectus carinatum 10.1
40 heart, malformation of 10.1 TBX5 NKX2-5 JAG1
41 ulnar-mammary syndrome 10.1 TBX5 TBX2 NKX2-5
42 jacobsen syndrome 10.0 TBX5 NKX2-5 GATA4
43 cystic lymphangioma 10.0 SOS1 PTPN11
44 pulmonary hypertension, primary, 1 10.0
45 pulmonary edema 10.0
46 hemopericardium 10.0
47 cardiac tamponade 10.0
48 pericardial effusion 10.0
49 aorta-pulmonary artery fistula 10.0
50 carcinoid syndrome 10.0

Graphical network of the top 20 diseases related to Pulmonary Valve Stenosis:



Diseases related to Pulmonary Valve Stenosis

Symptoms & Phenotypes for Pulmonary Valve Stenosis

MGI Mouse Phenotypes related to Pulmonary Valve Stenosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 FBN1 GATA4 JAG1 LZTR1 MAP2K1 MAP2K2
2 growth/size/body region MP:0005378 10.22 FBN1 GATA4 JAG1 LZTR1 MAP2K1 MAP2K2
3 homeostasis/metabolism MP:0005376 10.18 FBN1 GATA4 JAG1 LZTR1 MAP2K1 MAP2K2
4 embryo MP:0005380 10.17 FBN1 GATA4 JAG1 MAP2K1 NKX2-5 PTPN11
5 craniofacial MP:0005382 10.13 FBN1 JAG1 LZTR1 MAP2K1 MAP2K2 NKX2-5
6 mortality/aging MP:0010768 10.07 FBN1 GATA4 JAG1 LZTR1 MAP2K1 MAP2K2
7 digestive/alimentary MP:0005381 10.06 GATA4 JAG1 MAP2K1 MAP2K2 NKX2-5 PTPN11
8 integument MP:0010771 9.97 FBN1 GATA4 JAG1 MAP2K1 MAP2K2 NKX2-5
9 muscle MP:0005369 9.85 FBN1 GATA4 JAG1 LZTR1 NKX2-5 PTPN11
10 normal MP:0002873 9.7 GATA4 JAG1 MAP2K1 MAP2K2 NKX2-5 PTPN11
11 skeleton MP:0005390 9.28 FBN1 GATA4 JAG1 LZTR1 MAP2K1 MAP2K2

Drugs & Therapeutics for Pulmonary Valve Stenosis

Drugs for Pulmonary Valve Stenosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dobutamine Approved Phase 3 34368-04-2 36811
2 Adrenergic beta-Agonists Phase 3
3 Cardiotonic Agents Phase 3
4 Neurotransmitter Agents Phase 3
5 Adrenergic Agents Phase 3
6 Sympathomimetics Phase 3
7 Adrenergic Agonists Phase 3
8 Protective Agents Phase 3
9 Pharmaceutical Solutions Phase 2
10
Sodium citrate Approved, Investigational 68-04-2
11
Parathyroid hormone Approved, Investigational 9002-64-6
12
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
13 Citrate
14 Chelating Agents
15 Calcium, Dietary
16 Anticoagulants
17 Hormones
18 Fluorides
19
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 34)
# Name Status NCT ID Phase Drugs
1 Cardiac Imaging Under Exercise Stress Test for Early Assessment of Right Ventricular Function in Patients With Tetralogy of Fallot and Pulmonary Regurgitation Terminated NCT00564993 Phase 3 Dobutamin
2 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
3 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Withdrawn NCT02365415 Phase 2 Sirolimus
4 Catheter Denervation of Pulmonary Arteries in The Treatment of Idiopathic (PAH) & Secondary Pulmonary Hypertension (PH) Unknown status NCT02403908 Phase 1
5 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
6 Multicenter Registry Study of Surgery and Transcatheter Intervention for Structural Heart Diseases Unknown status NCT02917980
7 Molecular Basis of Congenital Heart Defects Unknown status NCT00579358
8 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
9 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
10 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175
11 Study of the Relationship Between Calcium Levels and Intact Parathyroid Hormone (iPTH) in Adults With Repaired or Palliated Conotruncal Cardiac Defects Completed NCT00004361 calcium gluconate;sodium citrate
12 Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT01356108
13 Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT00676689
14 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
15 Proposal for Retrospective Review of Imaging Pre- and Post - Pulmonary Valve Replacement Completed NCT00446108
16 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
17 Pulmonic SAPIEN XT™ THV A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Completed NCT02302131
18 A Retrospective Study of Hypoxemia in Infants After Palliative Neonatal Surgery for Congenital Heart Disease Completed NCT00327977
19 Evaluation of an Oral Health Intervention Program for Children With Congenital Heart Defects Completed NCT03311438
20 New Enrollment SAPIEN XT Post-Approval Study Recruiting NCT02987387
21 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Recruiting NCT03983512
22 Multicenter Study of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
23 COngenital Multicenter Trial of Pulmonic vAlve Dysfunction Studying the SAPIEN 3 interventIONal THV Recruiting NCT02744677
24 Right Ventricular Diastolic Function in Chronic Adverse RV Loading And Congenital Heart Disease Recruiting NCT03471936
25 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
26 Sudden Cardiac Death in Congenital Heart Diseases With a Systemic Right Ventricle Recruiting NCT03833843
27 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Implantation of Transcatheter Pulmonary Valve (TPV) for the Treatment of Congenital Heart Disease With Pulmonary Valve Disease Active, not recruiting NCT02555319
28 A Prospective, Multicenter, Single Arm Study to Evaluate the Safety and Effectiveness of Implantation of 'Transcatheter Pulmonary Valve (TPV)' for the Treatment of Congenital Heart Disease With Pulmonary Valve Disease Active, not recruiting NCT03110861
29 Pulmonic SAPIEN S3™ THV Registry A Multi-center, Observational Registry With Retrospective Enrollment of Patients That Underwent Transcatheter Pulmonic Valve Implantation and a Retrospective or Prospective Follow-up Active, not recruiting NCT02777892
30 Prospective, Non-randomised, Open Label Clinical Study to Assess the Safety of the Bioabsorbable Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract (RVOT) Reconstruction Active, not recruiting NCT02700100
31 Contribution of Left Atrial Epicardial Fat Quantification by Computed Tomography and Left Atrial Strain by MRI in Atrial-Fibrilation Ablation: "The CTStrain-AF Study" Not yet recruiting NCT04281329
32 Clinical Management of Children With Mild Valvar Pulmonary Stenosis Terminated NCT00277927
33 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163
34 A Review of the Diagnosis, Treatment and Outcomes of Children With Critical Congenital Heart Defects Terminated NCT00208689

Search NIH Clinical Center for Pulmonary Valve Stenosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Alprostadil

Cochrane evidence based reviews: pulmonary valve stenosis

Genetic Tests for Pulmonary Valve Stenosis

Anatomical Context for Pulmonary Valve Stenosis

MalaCards organs/tissues related to Pulmonary Valve Stenosis:

40
Heart, Lung, Testes, Liver, Skeletal Muscle, Small Intestine

Publications for Pulmonary Valve Stenosis

Articles related to Pulmonary Valve Stenosis:

(show top 50) (show all 939)
# Title Authors PMID Year
1
The spectrum of cardiac anomalies in Noonan syndrome as a result of mutations in the PTPN11 gene. 61 54
17515436 2007
2
Nonsyndromic pulmonary valve stenosis and the PTPN11 gene. 61 54
12522798 2003
3
Congenital central pulmonary artery anomalies: Part 2. 61
32500159 2020
4
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
5
Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease. 61
32383621 2020
6
Congenital central pulmonary artery anomalies: Part 1. 61
32474775 2020
7
Congenital right coronary artery aneurysm with fistula to right ventricle associated with isolated pulmonary valvular stenosis. 61
32302027 2020
8
Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy. 61
31972311 2020
9
Experience with balloon pulmonary valvuloplasty and predictors of outcome: a ten-year study. 61
32070441 2020
10
Right Ventricular Growth and Function After Balloon Valvuloplasty for Critical Pulmonary Valve Stenosis in Infants and Neonates. 61
32065250 2020
11
Impact of maternal pulmonary insufficiency on fetal growth in pregnancy. 61
30130989 2020
12
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap. 61
32052942 2020
13
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. 61
32022400 2020
14
Pulmonary endarteritis and endocarditis complicated with septic embolism: a case report and review of the literature. 61
32164584 2020
15
Intravenous Sotalol for the Treatment of Ventricular Dysrhythmias in an Infant on Extracorporeal Membrane Oxygenation. 61
31664485 2020
16
Late Presentation of a Congenitally Corrected Transposition of Great Arteries and Hemodynamically Balanced Ventricles Associated with a Large Ventricular Septal Defect and Severe Pulmonary Stenosis: A Case Report and a Multi-Imaging Approach. 61
32111814 2020
17
Determinants of long-term outcome of repaired pulmonary valve stenosis. 61
31130344 2020
18
Repaired isolated pulmonary valve stenosis: living happily ever after? 61
31585848 2020
19
Transesophageal echocardiography evaluation of severe pulmonary valve stenosis and regurgitation due to ring-like calcification. 61
31974330 2020
20
Aortic and Pulmonary Valve Reconstruction Using Autologous Pericardium in Narrow Annuli. 61
31185205 2020
21
Utility of expert focused cardiac ultrasound in paediatric cardiology outreach clinics. 61
31735194 2019
22
Successful transcatheter pulmonary valve implantation in a dog: first clinical report. 61
31785529 2019
23
Percutaneous Valve Interventions in the Adult Congenital Heart Disease Population: Emerging Technologies and Indications. 61
31813506 2019
24
Echocardiographic assessment of right heart size and function in dogs with pulmonary valve stenosis. 61
31794914 2019
25
Epicardial Echocardiography as Rescue Modality for Detection of Dynamic Right Ventricular Outflow Tract Obstruction in Post Pulmonary Valve Stenosis Repair. 61
31567133 2019
26
The Impact of Technology on the Diagnosis of Congenital Malformations. 61
31241162 2019
27
A pilot study evaluating cutting and high-pressure balloon valvuloplasty for dysplastic pulmonary valve stenosis in 7 dogs. 61
31675525 2019
28
Transcatheter closure of a rare coronary artery fistula using a modified mother-child technique. 61
31516296 2019
29
Pulmonary vein isolation in a patient with congenital pulmonary atresia: a case report. 61
31660488 2019
30
Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease. 61
31487937 2019
31
Combined interventional procedure and cardiopulmonary bypass surgery in a dog with cor triatriatum dexter, patent foramen ovale, and pulmonary stenosis. 61
31380593 2019
32
Aortic root replacement in a patient with unoperated tricuspid atresia. 61
31385567 2019
33
A system-based approach to the genetic etiologies of non-immune hydrops fetalis. 61
31087399 2019
34
Leiomyoma development in Mayer-Rokitansky-Küster-Hauser syndrome: a case report and a narrative review of the literature. 61
31338349 2019
35
Real-Time Transthoracic Vector Flow Imaging of the Heart in Pediatric Patients. 61
31662599 2019
36
Use of benzodiazepine medications during pregnancy and potential risk for birth defects, National Birth Defects Prevention Study, 1997-2011. 61
30891943 2019
37
Current Challenges and Emergent Technologies for Manufacturing Artificial Right Ventricle to Pulmonary Artery (RV-PA) Cardiac Conduits. 61
30767113 2019
38
Transcatheter pulmonary valvuloplasty in neonates with pulmonary atresia and intact ventricular septum. 61
30797733 2019
39
The History of Noonan Syndrome. 61
31115193 2019
40
Natural history of complex transposition of great arteries in an adult: a case report. 61
31094305 2019
41
Intake of sucrose-sweetened soft beverages during pregnancy and risk of congenital heart defects (CHD) in offspring: a Norwegian pregnancy cohort study. 61
30661159 2019
42
Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient. 61
30953504 2019
43
Electrocardiography-gated cardiac CT angiography can differentiate brachycephalic dogs with and without pulmonary valve stenosis and findings differ from transthoracic echocardiography. 61
30475441 2019
44
Pulmonary valve stenosis in the adult patient: pathophysiology, diagnosis and management. 61
30337335 2019
45
Absent Pulmonary Valve Syndrome in a Fetus: A Case Report and Literature Review. 61
30661433 2019
46
Bidirectional flow across a perforate cor triatriatum dexter in a dog with concurrent pulmonary, tricuspid, and mitral valve dysplasia. 61
30797449 2019
47
The Norwood Procedure With Valvular Pulmonary Stenosis. 61
29890149 2019
48
Outcome of Pregnancies in Female Patients With Inflammatory Bowel Diseases Treated With Vedolizumab. 61
30281093 2019
49
Fetal and Neonatal Circulatory Disorders in Twin to Twin Transfusion Syndrome (The Secondary Publication). 61
31484880 2019
50
Noonan Syndrome in South Africa: Clinical and Molecular Profiles. 61
31057598 2019

Variations for Pulmonary Valve Stenosis

ClinVar genetic disease variations for Pulmonary Valve Stenosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RBM20 NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)SNV Uncertain significance 180477 rs730880181 10:112541386-112541386 10:110781628-110781628
2 SCN5A NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu)SNV Benign/Likely benign 36765 rs41315493 3:38592012-38592012 3:38550521-38550521

Expression for Pulmonary Valve Stenosis

Search GEO for disease gene expression data for Pulmonary Valve Stenosis.

Pathways for Pulmonary Valve Stenosis

Pathways related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.53 SOS2 SOS1 SCN5A RASA2 PTPN11 MAP2K2
2
Show member pathways
12.92 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
3
Show member pathways
12.89 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
4
Show member pathways
12.89 SOS2 SOS1 NKX2-5 MAP2K2 MAP2K1 GATA4
5 12.86 SOS2 SOS1 MAP2K2 MAP2K1 JAG1
6
Show member pathways
12.81 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
7 12.8 SOS2 SOS1 RASA2 MAP2K2 MAP2K1
8
Show member pathways
12.8 SOS2 SOS1 MAP2K2 MAP2K1 JAG1
9
Show member pathways
12.75 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
10
Show member pathways
12.71 SOS2 SOS1 MAP2K2 MAP2K1 JAG1
11
Show member pathways
12.71 SOS2 SOS1 MAP2K2 MAP2K1 GATA4
12
Show member pathways
12.7 SOS2 SOS1 SCN5A MAP2K2 MAP2K1
13
Show member pathways
12.67 SOS2 SOS1 MAP2K2 MAP2K1 GATA4
14
Show member pathways
12.66 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
15
Show member pathways
12.65 SOS2 SOS1 SHOC2 RASA2 PTPN11 MAP2K2
16
Show member pathways
12.63 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
17
Show member pathways
12.62 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
18
Show member pathways
12.6 SOS2 SOS1 MAP2K2 MAP2K1
19
Show member pathways
12.6 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
20
Show member pathways
12.59 SOS2 SOS1 MAP2K2 MAP2K1
21
Show member pathways
12.55 SCN5A MAP2K2 MAP2K1 GATA4
22 12.55 SOS2 SOS1 MAP2K2 MAP2K1
23
Show member pathways
12.55 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
24
Show member pathways
12.54 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
25
Show member pathways
12.52 SOS2 SOS1 MAP2K2 MAP2K1
26
Show member pathways
12.51 SOS2 SOS1 MAP2K2 MAP2K1
27
Show member pathways
12.5 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
28
Show member pathways
12.49 TBX5 NKX2-5 GATA4 CFC1
29
Show member pathways
12.49 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
30
Show member pathways
12.47 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
31
Show member pathways
12.43 SOS2 SOS1 MAP2K2 MAP2K1
32
Show member pathways
12.42 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
33
Show member pathways
12.42 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
34
Show member pathways
12.41 SOS2 SOS1 MAP2K2 MAP2K1
35
Show member pathways
12.41 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
36
Show member pathways
12.4 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
37
Show member pathways
12.39 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
38
Show member pathways
12.37 SOS2 SOS1 MAP2K2 MAP2K1
39
Show member pathways
12.36 SOS2 SOS1 MAP2K2 MAP2K1
40
Show member pathways
12.35 SOS2 SOS1 MAP2K2 MAP2K1
41
Show member pathways
12.35 SOS2 SOS1 MAP2K2 MAP2K1
42
Show member pathways
12.33 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
43 12.29 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
44
Show member pathways
12.28 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
45
Show member pathways
12.24 SOS2 SOS1 MAP2K2 MAP2K1
46 12.23 SOS2 SOS1 MAP2K2 MAP2K1
47
Show member pathways
12.18 SOS2 SOS1 MAP2K2 MAP2K1
48 12.16 SOS2 SOS1 PTPN11 MAP2K2 MAP2K1
49
Show member pathways
12.14 TBX2 SOS1 PTPN11 MAP2K2 MAP2K1
50
Show member pathways
12.12 SOS2 SOS1 MAP2K2 MAP2K1

GO Terms for Pulmonary Valve Stenosis

Biological processes related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 10.02 TBX5 NKX2-5 MAP2K2 MAP2K1 GATA4
2 MAPK cascade GO:0000165 9.88 SOS1 RASA2 MAP2K2 MAP2K1
3 heart looping GO:0001947 9.67 TBX2 NKX2-5 GATA4
4 heart morphogenesis GO:0003007 9.63 TBX2 SOS1 NKX2-5
5 embryonic heart tube development GO:0035050 9.62 TBX2 NKX2-5
6 positive regulation of sodium ion transport GO:0010765 9.61 SCN5A NKX2-5
7 aorta morphogenesis GO:0035909 9.61 TBX2 JAG1
8 cardiac right ventricle morphogenesis GO:0003215 9.6 JAG1 GATA4
9 regulation of cardiac muscle cell contraction GO:0086004 9.59 SCN5A GATA4
10 endocardial cushion development GO:0003197 9.58 TBX5 GATA4
11 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.57 MAP2K2 MAP2K1
12 regulation of stress-activated MAPK cascade GO:0032872 9.56 MAP2K2 MAP2K1
13 cardiac ventricle morphogenesis GO:0003208 9.55 NKX2-5 GATA4
14 Bergmann glial cell differentiation GO:0060020 9.54 PTPN11 MAP2K1
15 regulation of early endosome to late endosome transport GO:2000641 9.52 MAP2K2 MAP2K1
16 positive regulation of small GTPase mediated signal transduction GO:0051057 9.51 SOS2 SOS1
17 cardiac muscle cell differentiation GO:0055007 9.5 TBX5 NKX2-5 GATA4
18 atrioventricular canal development GO:0036302 9.48 TBX2 PTPN11
19 regulation of Golgi inheritance GO:0090170 9.43 MAP2K2 MAP2K1
20 cardiac muscle tissue development GO:0048738 9.43 TBX2 NKX2-5 GATA4
21 cerebellar cortex formation GO:0021697 9.4 PTPN11 MAP2K1
22 bundle of His development GO:0003166 9.37 TBX5 NKX2-5
23 atrial septum morphogenesis GO:0060413 9.33 TBX5 NKX2-5 GATA4
24 heart development GO:0007507 9.17 TBX5 RBM20 PTPN11 NKX2-5 MAP2K1 FBN1
25 positive regulation of cardioblast differentiation GO:0051891 9.13 TBX5 NKX2-5 GATA4

Molecular functions related to Pulmonary Valve Stenosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MAP kinase kinase activity GO:0004708 9.16 MAP2K2 MAP2K1
2 MAP-kinase scaffold activity GO:0005078 8.96 MAP2K2 MAP2K1
3 scaffold protein binding GO:0097110 8.8 SCN5A MAP2K2 MAP2K1

Sources for Pulmonary Valve Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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