MCID: PLM041
MIFTS: 50

Pulmonary Valve Stenosis

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pulmonary Valve Stenosis

MalaCards integrated aliases for Pulmonary Valve Stenosis:

Name: Pulmonary Valve Stenosis 12 73 20 54 6 44 15 17 70 32
Valvular Pulmonary Stenosis 20 58
Heart Valve Pulmonary Stenosis 20
Valvate Pulmonary Stenosis 20
Valvar Pulmonary Stenosis 20
Pulmonary Stenosis 70

Classifications:

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


External Ids:

Disease Ontology 12 DOID:6420
MeSH 44 D011666
SNOMED-CT 67 56786000
ICD10 32 I37.0 I37.2
MESH via Orphanet 45 D011666
ICD10 via Orphanet 33 Q22.1
UMLS via Orphanet 71 C0034089
Orphanet 58 ORPHA99054
UMLS 70 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 noonan syndrome 1. An important gene associated with Pulmonary Valve Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Developmental Biology and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Pharmaceutical Solutions and Sodium citrate have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and small intestine, and related phenotypes are cardiovascular system and growth/size/body region

Wikipedia : 73 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 138)
# Related Disease Score Top Affiliating Genes
1 pulmonic stenosis 32.2 ZNF526 TMCO1 SOS1 JAG1 BRAF
2 noonan syndrome 1 30.9 SOS2 SOS1 SHOC2 RASA2 PTPN11 MIR1304
3 ventricular septal defect 30.8 TBX5 NKX2-5 JAG1 GATA4 BRAF
4 aortic valve disease 2 30.5 TBX5 NKX2-5 GATA4
5 heart septal defect 30.3 TBX5 TBX2 SOS1 SHOC2 PTPN11 NKX2-5
6 patent foramen ovale 30.2 TBX5 TBX2 SOS1 PTPN11 NKX2-5 GATA4
7 tricuspid atresia 30.2 TBX5 NKX2-5 GATA4
8 interatrial communication 30.1 TBX5 NKX2-5 GATA4
9 double outlet right ventricle 30.1 TBX5 TBX2 NKX2-5 GATA4 CFC1
10 cryptorchidism, unilateral or bilateral 30.0 TMCO1 SOS1 SHOC2 PTPN11 GATA4
11 noonan syndrome with multiple lentigines 30.0 TBX5 SOS2 SOS1 SHOC2 SCN5A RASA2
12 hypoplastic left heart syndrome 29.9 TBX5 TBX2 NKX2-5 JAG1 GATA4 CFC1
13 patent ductus arteriosus 1 29.8 TBX5 SOS1 SHOC2 PTPN11 NKX2-5 JAG1
14 atrial heart septal defect 29.8 TBX5 TBX2 SOS1 SHOC2 SCN5A PTPN11
15 pseudo-turner syndrome 29.6 SOS2 SOS1 SHOC2 PTPN11 MAP2K1 BRAF
16 tetralogy of fallot 29.5 TBX5 TBX2 SOS1 SCN5A PTPN11 NKX2-5
17 hypertrophic cardiomyopathy 29.3 SOS2 SOS1 SHOC2 SCN5A RBM20 PTPN11
18 heart disease 28.9 TBX5 TBX2 SOS1 SCN5A PTPN11 NKX2-5
19 keipert syndrome 11.2
20 vertebral anomalies and variable endocrine and t-cell dysfunction 11.2
21 kleefstra syndrome 11.2
22 pulmonary valve insufficiency 10.6
23 cyanosis, transient neonatal 10.5
24 lentigines 10.4 PTPN11 BRAF
25 tricuspid valve insufficiency 10.4
26 noonan syndrome and noonan-related syndrome 10.3 SOS1 PTPN11 BRAF
27 villonodular synovitis 10.3 SOS1 PTPN11
28 noonan syndrome-like disorder with loose anagen hair 1 10.2 SHOC2 PTPN11
29 pulmonary atresia with intact ventricular septum 10.2
30 acneiform dermatitis 10.2 MAP2K1 BRAF
31 noonan syndrome 3 10.2 SOS1 SHOC2 PTPN11
32 keratosis pilaris atrophicans faciei 10.2 SOS1 PTPN11 MAP2K1
33 sinoatrial node disease 10.2 TBX5 SCN5A NKX2-5
34 tricuspid valve disease 10.2 TBX5 NKX2-5 GATA4
35 hypoplastic right heart syndrome 10.2 TBX5 NKX2-5
36 endocarditis 10.2
37 congestive heart failure 10.2
38 syncope 10.2
39 ulnar-mammary syndrome 10.2 TBX5 TBX2 NKX2-5
40 intrinsic cardiomyopathy 10.1 SCN5A RBM20 NKX2-5 GATA4
41 jacobsen syndrome 10.1 TBX5 NKX2-5 GATA4
42 wolff-parkinson-white syndrome 10.1 SCN5A NKX2-5 JAG1
43 abnormal hair, joint laxity, and developmental delay 10.1 PTPN11 JAG1
44 cor triatriatum 10.1
45 ebstein anomaly 10.1 TBX5 SCN5A NKX2-5 GATA4
46 atrioventricular block 10.1 TBX5 SCN5A NKX2-5 GATA4
47 atrial septal defect 2 10.1 TBX5 PTPN11 NKX2-5 GATA4
48 skin granular cell tumor 10.1 SOS1 SHOC2 PTPN11 MAP2K1
49 pulmonary hypertension, primary, 1 10.1
50 pulmonary edema 10.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.27 BRAF GATA4 JAG1 LZTR1 MAP2K1 NKX2-5
2 growth/size/body region MP:0005378 10.17 BRAF GATA4 JAG1 LZTR1 MAP2K1 NKX2-5
3 embryo MP:0005380 10.15 BRAF GATA4 JAG1 MAP2K1 NKX2-5 PTPN11
4 craniofacial MP:0005382 10.09 BRAF JAG1 LZTR1 MAP2K1 NKX2-5 PTPN11
5 homeostasis/metabolism MP:0005376 10.07 BRAF GATA4 JAG1 LZTR1 MAP2K1 NKX2-5
6 digestive/alimentary MP:0005381 10.01 BRAF GATA4 JAG1 MAP2K1 NKX2-5 PTPN11
7 mortality/aging MP:0010768 10 BRAF GATA4 JAG1 LZTR1 MAP2K1 NKX2-5
8 muscle MP:0005369 9.65 BRAF GATA4 JAG1 LZTR1 NKX2-5 PTPN11
9 normal MP:0002873 9.36 BRAF GATA4 JAG1 MAP2K1 NKX2-5 PTPN11

Drugs & Therapeutics for Pulmonary Valve Stenosis

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2
2
Sodium citrate Approved, Investigational 68-04-2
3
Parathyroid hormone Approved, Investigational 9002-64-6
4
tannic acid Approved 1401-55-4
5
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
6
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
7 Citrate
8 Chelating Agents
9 Anticoagulants
10 Hormones
11 Calcium, Dietary
12 Anesthetics
13
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Optical Tissue Identification for Myocardial Architecture (OPTIMA Study) Recruiting NCT04017975 Phase 2 Fluorescite
2 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Withdrawn NCT02365415 Phase 2 Sirolimus
3 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot. Unknown status NCT02186691
4 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
5 Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance Completed NCT00266175
6 Pulmonary Artery Repair With Covered Stents Completed NCT01824160
7 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
8 Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children Completed NCT00385112
9 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
10 Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT00676689
11 Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position Completed NCT01356108
12 Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX) Recruiting NCT04452188
13 The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study Recruiting NCT03983512
14 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
15 New Enrollment SAPIEN XT Post-Approval Study Active, not recruiting NCT02987387
16 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
17 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
18 Clinical Management of Children With Mild Valvar Pulmonary Stenosis Terminated NCT00277927

Search NIH Clinical Center for Pulmonary Valve Stenosis

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Skeletal Muscle, Small Intestine

Publications for Pulmonary Valve Stenosis

Articles related to Pulmonary Valve Stenosis:

(show top 50) (show all 968)
# 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
Exposure to air pollutants and risk of congenital anomalies: A systematic review and metaanalysis. 61
33183823 2021
4
Outcomes 60 years after surgical valvotomy for isolated congenital pulmonary valve stenosis. 61
33522622 2021
5
The Prevalence of Noonan Spectrum Disorders in Pediatric Patients with: Pulmonary Valve Stenosis. 61
33794220 2021
6
Effectiveness of evaluation by four-dimensional multidetector computed tomography on congenital unicuspid valvular pulmonary stenosis. 61
32584992 2021
7
Balloon pulmonary valvotomy in severe dysplastic pulmonary valve restenosis: A novel maneuver for stabilizing balloon positioning. 61
33679076 2021
8
Semilunar Valve Interventions for Congenital Heart Disease: JACC State-of-the-Art Review. 61
33413944 2021
9
Simultaneous transthoracic intervention for multiple cardiac defects in children. 61
33633943 2021
10
Embryonic Expression of NrasG 12 D Leads to Embryonic Lethality and Cardiac Defects. 61
33681212 2021
11
Outcomes of pulmonary valve leaflet augmentation for transannular repair of tetralogy of Fallot. 61
33685734 2021
12
Supravalvular and Valvular Pulmonary Stenosis: Predictive Features and Responsiveness to Percutaneous Dilation. 61
33464372 2021
13
Transpulmonary Stent Implantation for Dysplastic Pulmonary Valve Stenosis with a Single Left Coronary Ostium and Anomalous Prepulmonary Right Coronary Artery in an English Bulldog. 61
33376850 2020
14
Severe Cardiopulmonary Disease in a Parturient With Noonan Syndrome. 61
32746732 2020
15
Successful balloon valvuloplasty using direct puncture of the heart for pentalogy of Cantrell with complete ectopia cordis, low birth weight, single ventricle and severe pulmonary stenosis. 61
33040739 2020
16
Rare congenital quadricuspid pulmonary valve stenosis evaluated by CMR. 61
33391768 2020
17
Absent pulmonary valve or pulmonary atresia with intact ventricular septum: Which is it? 61
33011997 2020
18
Maternal occupational exposure and congenital heart defects in offspring. 61
33135766 2020
19
Familial LEOPARD Syndrome With Hypertrophic Cardiomyopathy. 61
32866449 2020
20
Left Ventricular Assist Device Implantation via Dual Left Thoracotomy in an Adult Patient with Congenitally Corrected Transposition of the Great Arteries. 61
33020348 2020
21
Congenitally corrected transposition and mitral atresia complicated by restrictive atrial septum. 61
32748445 2020
22
Balloon Valvuloplasty to Treat Adult Symptomatic Pulmonary Valve Stenosis with Sequential Follow-Up Using Cardiac Magnetic Resonance Imaging in Combination with Echocardiography. 61
32921664 2020
23
Case of calcific tricuspid and pulmonary valve stenosis. 61
32900724 2020
24
Cardiovascular Risk Factors in Patients With Congenital Heart Disease. 61
32585329 2020
25
Unconventional deployment of atrial septal occluder in a patient with atrial septal defect, dextrocardia, and interrupted inferior vena cava. 61
32594956 2020
26
Strategies for diagnosis of fetal right atrium dilation: based on fetal cardiac anatomy and hemodynamics. 61
32631249 2020
27
Congenital central pulmonary artery anomalies: Part 2. 61
32500159 2020
28
Cardiac malformations in children with congenital hypothyroidism. 61
33000607 2020
29
Congenital central pulmonary artery anomalies: Part 1. 61
32474775 2020
30
Pulmonary valve regurgitation Doppler analysis as a valid method to determine pulmonary artery pressure in case of pulmonary valve stenosis. 61
32740439 2020
31
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study. 61
32558384 2020
32
Use of Large Balloon Catheter to Treat Infants With Pulmonary Valve Stenosis. 61
32997781 2020
33
Double Trisomy 48,XXY,+21 in a Neonate with Congenital Heart Disease. 61
32383621 2020
34
Congenital right coronary artery aneurysm with fistula to right ventricle associated with isolated pulmonary valvular stenosis. 61
32302027 2020
35
Mechanism of the right ventricular reverse remodeling after balloon pulmonary valvuloplasty in patients with congenital pulmonary stenosis: A three-dimensional echocardiographic study. 61
32641883 2020
36
Impact of maternal pulmonary insufficiency on fetal growth in pregnancy. 61
30130989 2020
37
Experience with balloon pulmonary valvuloplasty and predictors of outcome: a ten-year study. 61
32070441 2020
38
Right Ventricular Growth and Function After Balloon Valvuloplasty for Critical Pulmonary Valve Stenosis in Infants and Neonates. 61
32065250 2020
39
Cardio-facio-cutaneous syndrome-associated pathogenic MAP2K1 variants activate autophagy. 61
31972311 2020
40
Pulmonary endarteritis and endocarditis complicated with septic embolism: a case report and review of the literature. 61
32164584 2020
41
Congenital heart disease in school children in Lagos, Nigeria: Prevalence and the diagnostic gap. 61
32052942 2020
42
Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment. 61
32022400 2020
43
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
44
Intravenous Sotalol for the Treatment of Ventricular Dysrhythmias in an Infant on Extracorporeal Membrane Oxygenation. 61
31664485 2020
45
Determinants of long-term outcome of repaired pulmonary valve stenosis. 61
31130344 2020
46
Repaired isolated pulmonary valve stenosis: living happily ever after? 61
31585848 2020
47
Integrative Perinatal Management Enhanced the Advantage of Prenatal Diagnosis on Critical Pulmonary Valve Stenosis: An Observational Preliminary Study. 61
33409260 2020
48
Aortic and Pulmonary Valve Reconstruction Using Autologous Pericardium in Narrow Annuli. 61
31185205 2020
49
Transesophageal echocardiography evaluation of severe pulmonary valve stenosis and regurgitation due to ring-like calcification. 61
31974330 2020
50
Successful transcatheter pulmonary valve implantation in a dog: first clinical report. 61
31785529 2019

Variations for Pulmonary Valve Stenosis

ClinVar genetic disease variations for Pulmonary Valve Stenosis:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOS1 NM_005633.3(SOS1):c.1300G>A (p.Gly434Arg) SNV Pathogenic 40672 rs397517148 GRCh37: 2:39250269-39250269
GRCh38: 2:39023128-39023128
2 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
3 ZNF526 NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr) SNV Likely pathogenic 183288 rs730882205 GRCh37: 19:42729034-42729034
GRCh38: 19:42224882-42224882
4 BRAF NM_001374258.1(BRAF):c.1622A>G (p.Glu541Gly) SNV Likely pathogenic 13978 rs180177039 GRCh37: 7:140477806-140477806
GRCh38: 7:140778006-140778006
5 CACNA1C NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) SNV Uncertain significance 190707 rs369483452 GRCh37: 12:2224416-2224416
GRCh38: 12:2115250-2115250
6 GATA4 NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) SNV Uncertain significance 9034 rs56208331 GRCh37: 8:11615928-11615928
GRCh38: 8:11758419-11758419
7 RBM20 NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu) SNV Uncertain significance 180477 rs730880181 GRCh37: 10:112541386-112541386
GRCh38: 10:110781628-110781628
8 ARID1A NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) Microsatellite Uncertain significance 992765 GRCh37: 1:27023162-27023163
GRCh38: 1:26696671-26696672
9 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
10 MYH11 NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) SNV Uncertain significance 492839 rs1555554139 GRCh37: 16:15820835-15820835
GRCh38: 16:15726978-15726978
11 HRAS , LRRC56 NM_005343.4(HRAS):c.277A>G (p.Ile93Val) SNV Likely benign 40439 rs587782949 GRCh37: 11:533779-533779
GRCh38: 11:533779-533779
12 SCN5A NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) SNV Likely benign 36765 rs41315493 GRCh37: 3:38592012-38592012
GRCh38: 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 66)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.5 SOS2 SOS1 SCN5A RASA2 PTPN11 MAP2K1
2
Show member pathways
12.9 SOS2 SOS1 PTPN11 MAP2K1 BRAF
3
Show member pathways
12.87 SOS2 SOS1 PTPN11 MAP2K1 BRAF
4 12.84 SOS2 SOS1 MAP2K1 JAG1 BRAF
5
Show member pathways
12.84 SOS2 SOS1 NKX2-5 MAP2K1 GATA4 BRAF
6
Show member pathways
12.78 SOS2 SOS1 PTPN11 MAP2K1 BRAF
7 12.76 SOS2 SOS1 RASA2 MAP2K1 BRAF
8
Show member pathways
12.76 SOS2 SOS1 MAP2K1 JAG1 BRAF
9
Show member pathways
12.72 SOS2 SOS1 PTPN11 MAP2K1 BRAF
10
Show member pathways
12.68 SOS2 SOS1 MAP2K1 JAG1 BRAF
11
Show member pathways
12.66 SOS2 SOS1 MAP2K1 GATA4 BRAF
12
Show member pathways
12.65 SOS2 SOS1 SCN5A MAP2K1 BRAF
13
Show member pathways
12.62 SOS2 SOS1 MAP2K1 GATA4
14
Show member pathways
12.6 SOS2 SOS1 PTPN11 MAP2K1 BRAF
15
Show member pathways
12.56 SOS2 SOS1 SHOC2 RASA2 PTPN11 MAP2K1
16
Show member pathways
12.52 SOS2 SOS1 PTPN11 MAP2K1
17
Show member pathways
12.5 SOS2 SOS1 MAP2K1 BRAF
18
Show member pathways
12.5 SOS2 SOS1 PTPN11 MAP2K1 BRAF
19
Show member pathways
12.48 SOS2 SOS1 PTPN11 MAP2K1
20
Show member pathways
12.47 TBX5 NKX2-5 GATA4 CFC1
21
Show member pathways
12.45 SOS2 SOS1 PTPN11 MAP2K1
22
Show member pathways
12.4 SOS2 SOS1 PTPN11 MAP2K1
23
Show member pathways
12.4 SOS2 SOS1 PTPN11 MAP2K1
24
Show member pathways
12.39 SOS2 SOS1 PTPN11 MAP2K1
25
Show member pathways
12.37 SOS2 SOS1 MAP2K1 BRAF
26
Show member pathways
12.37 SOS2 SOS1 PTPN11 MAP2K1 BRAF
27
Show member pathways
12.36 SOS2 SOS1 PTPN11 MAP2K1 BRAF
28
Show member pathways
12.33 SOS2 SOS1 MAP2K1 BRAF
29
Show member pathways
12.33 SOS2 SOS1 MAP2K1 BRAF
30
Show member pathways
12.31 SOS2 SOS1 PTPN11 MAP2K1
31 12.25 SOS2 SOS1 PTPN11 MAP2K1 BRAF
32
Show member pathways
12.24 SOS2 SOS1 PTPN11 MAP2K1 BRAF
33 12.18 SOS2 SOS1 MAP2K1 BRAF
34
Show member pathways
12.16 TBX2 SOS1 PTPN11 MAP2K1
35
Show member pathways
12.13 SOS2 SOS1 MAP2K1 BRAF
36
Show member pathways
12.12 SOS2 SOS1 PTPN11 MAP2K1
37 12.11 SOS2 SOS1 PTPN11 MAP2K1 BRAF
38
Show member pathways
12.07 SOS2 SOS1 MAP2K1 BRAF
39
Show member pathways
12.01 SOS2 SOS1 MAP2K1 BRAF
40 11.94 SOS2 SOS1 MAP2K1 BRAF
41 11.91 SOS1 MAP2K1 BRAF
42 11.88 TBX5 NKX2-5 GATA4
43
Show member pathways
11.85 SOS2 SOS1 PTPN11 MAP2K1
44 11.84 SOS2 SOS1 MAP2K1
45 11.84 SOS2 SOS1 MAP2K1 BRAF
46
Show member pathways
11.82 SOS1 PTPN11 MAP2K1
47 11.77 SOS1 SHOC2 PTPN11 MAP2K1 BRAF
48 11.73 SOS2 SOS1 MAP2K1 BRAF
49 11.73 SOS2 SOS1 MAP2K1
50
Show member pathways
11.73 SOS2 SOS1 PTPN11 MAP2K1

GO Terms for Pulmonary Valve Stenosis

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.91 SOS1 RASA2 MAP2K1 BRAF
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.86 PTPN11 MAP2K1 GATA4 BRAF
3 heart looping GO:0001947 9.72 TBX2 NKX2-5 GATA4
4 heart morphogenesis GO:0003007 9.65 TBX2 SOS1 NKX2-5
5 face development GO:0060324 9.63 MAP2K1 BRAF
6 embryonic heart tube development GO:0035050 9.63 TBX2 NKX2-5
7 epidermal growth factor receptor signaling pathway GO:0007173 9.63 SOS1 PTPN11 BRAF
8 aorta morphogenesis GO:0035909 9.62 TBX2 JAG1
9 positive regulation of sodium ion transport GO:0010765 9.62 SCN5A NKX2-5
10 regulation of T cell proliferation GO:0042129 9.61 SOS2 SOS1
11 cardiac right ventricle morphogenesis GO:0003215 9.6 JAG1 GATA4
12 regulation of cardiac muscle cell contraction GO:0086004 9.59 SCN5A GATA4
13 endocardial cushion development GO:0003197 9.58 TBX5 GATA4
14 Bergmann glial cell differentiation GO:0060020 9.58 PTPN11 MAP2K1
15 lymphocyte homeostasis GO:0002260 9.57 SOS2 SOS1
16 positive regulation of small GTPase mediated signal transduction GO:0051057 9.54 SOS2 SOS1
17 aortic valve morphogenesis GO:0003180 9.54 NKX2-5 JAG1 GATA4
18 regulation of axon regeneration GO:0048679 9.52 MAP2K1 BRAF
19 atrioventricular canal development GO:0036302 9.51 TBX2 PTPN11
20 thyroid gland development GO:0030878 9.5 NKX2-5 MAP2K1 BRAF
21 regulation of T cell differentiation in thymus GO:0033081 9.49 SOS2 SOS1
22 regulation of pro-B cell differentiation GO:2000973 9.43 SOS2 SOS1
23 cardiac muscle cell differentiation GO:0055007 9.43 TBX5 NKX2-5 GATA4
24 heart development GO:0007507 9.43 TBX5 RBM20 PTPN11 NKX2-5 MAP2K1 CFC1
25 cerebellar cortex formation GO:0021697 9.4 PTPN11 MAP2K1
26 atrial septum morphogenesis GO:0060413 9.33 TBX5 NKX2-5 GATA4
27 positive regulation of cardioblast differentiation GO:0051891 8.8 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 bacterial-type RNA polymerase transcriptional activator activity, sequence-specific DNA binding GO:0001216 8.96 NKX2-5 GATA4
2 scaffold protein binding GO:0097110 8.8 SCN5A MAP2K1 BRAF

Sources for Pulmonary Valve Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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