MCID: PLM070
MIFTS: 59

Pulmonic Stenosis

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis 54 50 29
Congenital Pulmonary Valve Stenosis 56
Valvular Pulmonic Stenosis 50
Pulmonary Valve Stenosis 69
Pulmonary Stenosis 69

Characteristics:

Orphanet epidemiological data:

56
congenital pulmonary valve stenosis
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-5/10000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),6-9/10000 (Germany),6-9/10000 (Hungary),1-9/100000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-5/10000 (Spain),6-9/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
? autosomal recessive, more likely multifactorial


Classifications:



External Ids:

OMIM 54 265500
Orphanet 56 ORPHA3189
UMLS via Orphanet 70 C0162164
MESH via Orphanet 43 D011666
ICD10 via Orphanet 34 Q22.1
ICD10 33 Q22.1

Summaries for Pulmonic Stenosis

MalaCards based summary : Pulmonic Stenosis, also known as congenital pulmonary valve stenosis, is related to watson syndrome and leopard syndrome 1, and has symptoms including laryngeal stenosis, atrial septal defect and malformation of the heart and great vessels. An important gene associated with Pulmonic Stenosis is NF1 (Neurofibromin 1), and among its related pathways/superpathways are HIV Life Cycle and TGF-Beta Pathway. The drugs Minoxidil and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and lung, and related phenotypes are Decreased viability and cardiovascular system

Wikipedia : 72 Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the... more...

Description from OMIM: 265500

Related Diseases for Pulmonic Stenosis

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

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 watson syndrome 32.7 MAP2K2 NF1 PTPN11
2 leopard syndrome 1 28.5 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
3 retinal arterial macroaneurysm with supravalvular pulmonic stenosis 12.4
4 pulmonary subvalvular stenosis 11.2
5 keutel syndrome 11.2
6 heterotaxy, visceral, 1, x-linked 11.1
7 cardiofaciocutaneous syndrome 11.1
8 leopard syndrome 11.0
9 congenital heart defects, multiple types, 4 10.9
10 left ventricular noncompaction 1, with or without congenital heart defects 10.9
11 leopard syndrome 2 10.9
12 cardiofaciocutaneous syndrome 4 10.9
13 leopard syndrome 3 10.9
14 costello syndrome 10.9
15 cardiofaciocutaneous syndrome 2 10.9
16 noonan syndrome 1 10.9
17 cardiofaciocutaneous syndrome 3 10.9
18 pulmonary valve stenosis 10.9
19 pineal gland astrocytoma 10.7 BRAF NF1
20 raf1-related noonan syndrome 10.6 BRAF PTPN11
21 autosomal dominant deafness-onychodystrophy syndrome 10.6 NF1 PTPN11
22 split hand split foot nystagmus 10.5 BRAF HRAS
23 sublingual gland adenoid cystic carcinoma 10.5 HRAS MAP2K1
24 ocular albinism, x-linked 10.3 BRAF PTPN11 RAF1
25 ventricular septal defect 10.3
26 facial paresis, hereditary congenital, 1 10.3 JAG1 PTPN11
27 progressive multifocal leukoencephalopathy 10.2 JAG1 PTPN11
28 tetralogy of fallot 10.2
29 nephrolithiasis 10.2 HRAS NF1 PTPN11
30 mental retardation, autosomal dominant 31 10.2 DTNA NR2F2
31 coloboma of inferior eyelid 10.1 BRAF KRAS
32 mediastinitis 10.1
33 aneurysm 10.1
34 laryngeal neuroendocrine tumor 10.1 BRAF KRAS
35 parachordoma 10.1 BRAF KRAS
36 patent ductus arteriosus 10.1
37 pulmonary hypertension 10.1
38 heart disease 10.1
39 sexual masochism 10.0 KRAS RAF1
40 malignant skin fibrous histiocytoma 10.0 HRAS KRAS
41 malignant syringoma 10.0 BRAF KRAS
42 limb ischemia 10.0 HRAS KRAS
43 severe pre-eclampsia 10.0 HRAS KRAS
44 patent foramen ovale 9.9
45 congestive heart failure 9.9
46 bladder benign neoplasm 9.9 KRAS RAF1
47 schimmelpenning-feuerstein-mims syndrome, somatic mosaic 9.9 HRAS KRAS
48 japanese encephalitis 9.9 KRAS RAF1
49 gastric papillary adenocarcinoma 9.9 HRAS KRAS
50 endocarditis 9.9

Graphical network of the top 20 diseases related to Pulmonic Stenosis:



Diseases related to Pulmonic Stenosis

Symptoms & Phenotypes for Pulmonic Stenosis

Symptoms via clinical synopsis from OMIM:

54

Cardiac:
pulmonic stenosis


Clinical features from OMIM:

265500

Human phenotypes related to Pulmonic Stenosis:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 laryngeal stenosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001602
2 atrial septal defect 32 frequent (33%) HP:0001631
3 pulmonic stenosis 32 HP:0001642
4 malformation of the heart and great vessels 56 Occasional (29-5%)
5 atria septal defect 56 Frequent (79-30%)

GenomeRNAi Phenotypes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.1 HRAS KRAS BRAF
2 Decreased viability GR00106-A-0 10.1 KRAS
3 Decreased viability GR00221-A-1 10.1 HRAS KRAS
4 Decreased viability GR00221-A-2 10.1 HRAS KRAS
5 Decreased viability GR00221-A-3 10.1 HRAS
6 Decreased viability GR00221-A-4 10.1 BRAF
7 Decreased viability GR00301-A 10.1 KRAS BRAF
8 Decreased viability GR00381-A-1 10.1 KRAS BRAF
9 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.09 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.09 PTPN11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.09 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.09 PTPN11
13 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.09 NF1 PTPN11 RAF1 BRAF
14 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.09 RAF1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.09 RAF1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.09 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.09 BRAF
18 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.09 PTPN11
19 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.09 PTPN11
20 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.09 BRAF
21 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.09 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.09 BRAF
23 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.09 BRAF
24 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.09 PTPN11
25 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.09 NF1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.09 BRAF PTPN11
27 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.09 RAF1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.09 PTPN11
29 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.09 NF1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-78 10.09 PTPN11
31 Increased shRNA abundance (Z-score > 2) GR00366-A-97 10.09 NF1
32 Decreased cell migration GR00055-A-1 9.72 BRAF HRAS KRAS MAP2K2 NF1
33 Increased cell migration GR00055-A-3 9.46 BRAF HRAS KRAS NF1
34 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 BRAF MAP2K2 NR2F2 PTPN11

MGI Mouse Phenotypes related to Pulmonic Stenosis:

44 (show all 23)
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.38 BRAF DTNA HRAS JAG1 KRAS MAP2K1
2 growth/size/body region MP:0005378 10.37 BRAF DTNA HRAS IGFBP7 JAG1 KRAS
3 behavior/neurological MP:0005386 10.31 JAG1 KRAS MAP2K2 NF1 RAF1 ZIC3
4 endocrine/exocrine gland MP:0005379 10.31 BRAF HRAS IGFBP7 JAG1 KRAS MAP2K1
5 cellular MP:0005384 10.3 BRAF IGFBP7 JAG1 KRAS MAP2K1 MAP2K2
6 craniofacial MP:0005382 10.29 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
7 mortality/aging MP:0010768 10.27 BRAF DTNA HRAS JAG1 KRAS MAP2K1
8 digestive/alimentary MP:0005381 10.24 MAP2K2 NF1 NR2F2 PTPN11 ZIC3 BRAF
9 homeostasis/metabolism MP:0005376 10.24 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
10 embryo MP:0005380 10.23 NF1 NR2F2 PTPN11 RAF1 ZIC3 BRAF
11 integument MP:0010771 10.22 BRAF HRAS IGFBP7 JAG1 KRAS MAP2K1
12 hearing/vestibular/ear MP:0005377 10.2 NF1 PTPN11 RAF1 ZIC3 BRAF JAG1
13 nervous system MP:0003631 10.17 BRAF DTNA HRAS JAG1 KRAS MAP2K1
14 muscle MP:0005369 10.08 BRAF DTNA JAG1 KRAS NF1 NR2F2
15 normal MP:0002873 10.07 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
16 neoplasm MP:0002006 10.06 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
17 liver/biliary system MP:0005370 10.05 BRAF JAG1 KRAS NF1 PTPN11 RAF1
18 no phenotypic analysis MP:0003012 9.95 PTPN11 RAF1 HRAS IGFBP7 JAG1 KRAS
19 reproductive system MP:0005389 9.8 NR2F2 PTPN11 ZIC3 BRAF IGFBP7 KRAS
20 pigmentation MP:0001186 9.72 BRAF KRAS NF1 NR2F2 PTPN11
21 respiratory system MP:0005388 9.7 BRAF HRAS KRAS NF1 PTPN11 RAF1
22 skeleton MP:0005390 9.7 BRAF DTNA HRAS JAG1 KRAS MAP2K1
23 vision/eye MP:0005391 9.32 NR2F2 PTPN11 RAF1 ZIC3 BRAF JAG1

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Minoxidil Approved Phase 2 38304-91-5 4201
2
Everolimus Approved Phase 2 159351-69-6 6442177
3
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
5 Antihypertensive Agents Phase 2
6 Vasodilator Agents Phase 2
7 Anti-Bacterial Agents Phase 2
8 Antibiotics, Antitubercular Phase 2
9 Antifungal Agents Phase 2
10 Anti-Infective Agents Phase 2
11 Immunosuppressive Agents Phase 2
12 Anticoagulants
13 Bone Density Conservation Agents
14 Calcium, Dietary
15 Chelating Agents
16 Hormones
17 Citrate Nutraceutical
18
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 26)

id Name Status NCT ID Phase Drugs
1 COMPASSION XT PAS - Post-approval Study of the SAPIEN XT THV in Patients With Pulmonary Valve Dysfunction Not yet recruiting NCT02987387 Phase 4
2 COMPASSION S3 - Evaluation of the SAPIEN 3 Transcatheter Heart Valve in Patients With Pulmonary Valve Dysfunction Recruiting NCT02744677 Phase 3
3 Efficacy of Minoxidil in Children With Williams-Beuren Syndrome Completed NCT00876200 Phase 2 Minoxidil;Placebo
4 Systemic Rapamycin (Sirolimus) to Prevent In-Stent Restenosis Following Pulmonary Artery Stent Placement Recruiting NCT02365415 Phase 2 Sirolimus
5 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
6 Pulmonary Arteriopathy-Diagnostics and Therapy Completed NCT00266175
7 Follow Up on Freestyle Valves in Children Completed NCT00385112
8 Retrospective Pulmonary Valve Replacement Imaging Completed NCT00446108
9 CryoValve SG Pulmonary Human Heart Valve Post Clearance Study Completed NCT01092442
10 Early Re-intervention in Infants and Small Children After Correction of Tetralogy of Fallot Completed NCT00536432
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 Reproduction and Survival After Cardiac Defect Repair Completed NCT00005190
13 Right and Left Ventricle Remodeling Predictors After Pulmonary Valve Replacement in Patients With Repaired Tetralogy of Fallot Recruiting NCT02186691
14 PULSTA® Transcatheter Pulmonary Valve Korean Multicenter Study Recruiting NCT03110861
15 Williams Syndrome (WS) and Supravalvular Aortic Stenosis (SVAS) DNA and Tissue Bank Recruiting NCT02706639
16 Multicenter Trial of Congenital Pulmonic Valve Dysfunction Studying the SAPIEN 3 THV With the Alterra Adaptive Prestent Recruiting NCT03130777
17 Xeltis Bioabsorbable Pulmonary Valved Conduit Early Feasibility Study Recruiting NCT03022708
18 Pulmonic Valve REplacement Multi-discIpline EMEA Registry Active, not recruiting NCT01356108
19 Pulmonary Artery Repair With Covered Stents Active, not recruiting NCT01824160
20 COMPASSION - COngenital Multicenter Trial of Pulmonic VAlve Regurgitation Studying the SAPIEN InterventIONal THV Active, not recruiting NCT00676689
21 A Feasibility Study to Evaluate the Safety and Short-term Effectiveness of Transcatheter Pulmonary Valve (TPV) Active, not recruiting NCT02555319
22 Study to Assess Safety of the Pulmonary Valved Conduit (PV-001) in Subjects Undergoing Right Ventricular Outflow Tract Reconstruction Active, not recruiting NCT02700100
23 Hormonal Sensitivity in Patients With Noonan and LEOPARD Syndromes Not yet recruiting NCT02486731
24 Implantation of the Venus P-Valveā„¢ in the Pulmonic Position in Patients With Native Outflow Tracts Not yet recruiting NCT02846753
25 Mild Valvar Pulmonary Stenosis Terminated NCT00277927
26 Adult Pulmonary Valve Replacement: A Simple and Reproducible Technique Terminated NCT00384163

Search NIH Clinical Center for Pulmonic Stenosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Pulmonic Stenosis

Genetic tests related to Pulmonic Stenosis:

id Genetic test Affiliating Genes
1 Pulmonic Stenosis 29

Anatomical Context for Pulmonic Stenosis

MalaCards organs/tissues related to Pulmonic Stenosis:

39
Heart, Bone, Lung, Liver, B Cells

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 342)
id Title Authors Year
1
Infundibular Pulmonic Stenosis in a Moluccan Cockatoo (Cacatua moluccensis). ( 28358604 )
2017
2
Full Development of Consequences of Congenital Pulmonic Stenosis in Eighty-Four Years. ( 28256252 )
2017
3
Dehiscence of a pulmonary bioprosthesis with a focal dissection of the pulmonary artery in a patient with congenital pulmonic stenosis. ( 28345243 )
2017
4
Aortic Translocation for Repair of Transposition of the Great Arteries (S,D,L) With Ventricular Septal Defect and Pulmonic Stenosis. ( 26694279 )
2016
5
Balloon dilation of congenital supravalvular pulmonic stenosis in a dog. ( 27297421 )
2016
6
Use of ECG-gated computed tomography, echocardiography and selective angiography in five dogs with pulmonic stenosis and one dog with pulmonic stenosis and aberrant coronary arteries. ( 27693045 )
2016
7
50 Years Ago in The Journal of Pediatrics: Valvular Pulmonic Stenosis in Infancy. ( 26719177 )
2016
8
Palliative balloon dilation of pulmonic stenosis in a dog with tetralogy of Fallot. ( 27025569 )
2016
9
Pulmonary artery dissection following balloon valvuloplasty in a dog with pulmonic stenosis. ( 27913078 )
2016
10
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. ( 26178382 )
2015
11
Anaesthetic management and complications of balloon valvuloplasty for pulmonic stenosis in dogs. ( 26374780 )
2015
12
Plasma N-terminal pro B-type natriuretic peptide concentrations in dogs with pulmonic stenosis. ( 24561377 )
2014
13
Management and complications of anaesthesia during balloon valvuloplasty for pulmonic stenosis in dogs: 39 cases (2000 to 2012). ( 24450439 )
2014
14
Giant left atrial appendage mimicking a mediastinal mass in a new diagnosis of atrial septal defect and pulmonic stenosis. ( 24794055 )
2014
15
Endovascular stenting of suture line supravalvular pulmonic stenosis after orthotopic heart transplantation using rapid pacing stabilization. ( 25147046 )
2014
16
Combined aortic and pulmonic stenosis in an octogenarian: findings from echocardiography, catheterization, and pathology. ( 24493808 )
2014
17
Comparison of long-term postoperative sequelae in patients with tetralogy of Fallot versus isolated pulmonic stenosis. ( 24878128 )
2014
18
Novel coronary artery anomaly in an English Bulldog with pulmonic stenosis. ( 23869559 )
2013
19
A large left ventricular diverticulum in a patient withA congenital pulmonic stenosis. ( 23684527 )
2013
20
Pulmonic stenosis in dogs: survival and risk factors in a retrospective cohort of patients. ( 23889710 )
2013
21
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. ( 22151278 )
2012
22
Evidence for increased probability of cardiac death in dogs with pulmonic stenosis questionable. ( 22533322 )
2012
23
Surgical treatment of severe pulmonic stenosis under cardiopulmonary bypass in small dogs. ( 22225461 )
2012
24
Surgical therapy for canine congenital valvular pulmonic stenosis: when and how? ( 22283792 )
2012
25
The relevance of echocardiography heart measures for breeding against the risk of subaortic and pulmonic stenosis in Boxer dogs. ( 21908643 )
2012
26
Massive dilatation of the pulmonary artery in association with pulmonic stenosis and pulmonary hypertension. ( 22837867 )
2012
27
Pseudo-pulmonic stenosis in non-hodgkin's large B-cell lymphoma. ( 22494268 )
2012
28
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery--2 years later. ( 21777287 )
2011
29
A case of valvular pulmonic stenosis and an aberrant coronary artery in a Brittany spaniel. ( 22043079 )
2011
30
Outcome in 55 dogs with pulmonic stenosis that did not undergo balloon valvuloplasty or surgery. ( 21627655 )
2011
31
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. ( 20720393 )
2010
32
Balloon valvuloplasty for treatment of pulmonic stenosis in English Bulldogs with an aberrant coronary artery. ( 20102492 )
2010
33
Congenital pulmonic stenosis in a 77-year-old woman successfully treated with percutaneous balloon valvuloplasty. ( 20157499 )
2010
34
A case of left main systolic compression caused by a dilated pulmonary artery in a patient with congenital pulmonic stenosis. ( 21041858 )
2010
35
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis. ( 20437614 )
2010
36
Histological study of right ventricle-pulmonary artery valved conduit implantation (RPVC) in dogs with pulmonic stenosis. ( 19420842 )
2009
37
Cardiovascular effects of right ventricle-pulmonary artery valved conduit implantation in experimental pulmonic stenosis. ( 19420852 )
2009
38
Efficacy of open patch-grafting under cardiopulmonary bypass for pulmonic stenosis in small dogs. ( 19245618 )
2009
39
Cardiac troponin I and C-reactive protein concentrations in dogs with severe pulmonic stenosis before and after balloon valvuloplasty. ( 19473901 )
2009
40
Presentation of pulmonary artery intimal sarcoma in an infant with a history of neonatal valvular pulmonic stenosis. ( 18291210 )
2008
41
Aneurysm of right ventricular outflow tract with pulmonic stenosis 28 years after atrial septal defect repair. ( 18258521 )
2008
42
Percutaneous balloon valvuloplasty for pulmonic stenosis: the role of multimodality imaging. ( 18190536 )
2008
43
Partial anomalous pulmonary venous return presenting as pseudo-pulmonic stenosis. ( 19083893 )
2007
44
Increased chymase-like activity in a dog with congenital pulmonic stenosis. ( 17689467 )
2007
45
Surgical correction of pulmonic stenosis using transventricular pulmonic dilation valvuloplasty (Brock) in a dog. ( 17485937 )
2007
46
An unusual severe pulmonic stenosis case without significant electrocardiographic changes. ( 18065320 )
2007
47
Prospective evaluation of the balloon-to-annulus ratio for valvuloplasty in the treatment of pulmonic stenosis in the dog. ( 16955810 )
2006
48
Transcatheter intravascular stent placement to relieve supravalvular pulmonic stenosis. ( 19083348 )
2006
49
Subvalvular pulmonic stenosis. ( 17063954 )
2006
50
Pathologic and molecular analysis in a family with rare mixed supravalvar aortic and pulmonic stenosis. ( 16944981 )
2006

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 BRAF NM_004333.4(BRAF): c.1502A> G (p.Glu501Gly) single nucleotide variant Pathogenic/Likely pathogenic rs180177039 GRCh37 Chromosome 7, 140477806: 140477806

Expression for Pulmonic Stenosis

Search GEO for disease gene expression data for Pulmonic Stenosis.

Pathways for Pulmonic Stenosis

Pathways related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show top 50) (show all 159)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.8 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
2
Show member pathways
13.59 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
3
Show member pathways
13.57 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
4
Show member pathways
13.47 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
5
Show member pathways
13.43 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
6
Show member pathways
13.33 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
7
Show member pathways
13.27 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
8
Show member pathways
13.16 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
9
Show member pathways
13.11 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
10
Show member pathways
13.1 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
11
Show member pathways
13.09 HRAS KRAS MAP2K1 MAP2K2 RAF1
12
Show member pathways
13.05 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
13
Show member pathways
13.04 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
14
Show member pathways
13.02 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
15
Show member pathways
13.01 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
16
Show member pathways
13.01 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
17
Show member pathways
13 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
18
Show member pathways
12.99 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
19
Show member pathways
12.98 HRAS KRAS MAP2K1 MAP2K2 RAF1
20
Show member pathways
12.96 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
21
Show member pathways
12.95 BRAF HRAS KRAS MAP2K1 RAF1
22
Show member pathways
12.94 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
23
Show member pathways
12.94 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
24
Show member pathways
12.92 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
25
Show member pathways
12.9 HRAS KRAS MAP2K1 MAP2K2 RAF1
26
Show member pathways
12.88 HRAS KRAS MAP2K1 MAP2K2 RAF1
27 12.84 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
28 12.83 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
29
Show member pathways
12.82 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
30
Show member pathways
12.82 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
31 12.8 HRAS JAG1 KRAS MAP2K1 MAP2K2 RAF1
32
Show member pathways
12.8 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
33
Show member pathways
12.78 BRAF KRAS MAP2K1 MAP2K2 RAF1
34 12.78 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
35
Show member pathways
12.75 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
36
Show member pathways
12.7 HRAS MAP2K1 MAP2K2 PTPN11 RAF1
37
Show member pathways
12.68 BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
38
Show member pathways
12.67 HRAS MAP2K1 MAP2K2 RAF1
39
Show member pathways
12.67 HRAS MAP2K1 MAP2K2 RAF1
40
Show member pathways
12.67 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
41
Show member pathways
12.67 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
42
Show member pathways
12.65 HRAS MAP2K1 MAP2K2 RAF1
43
Show member pathways
12.65 HRAS MAP2K1 MAP2K2 PTPN11 RAF1
44 12.65 HRAS KRAS MAP2K1 MAP2K2 RAF1
45
Show member pathways
12.65 BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
46
Show member pathways
12.64 BRAF HRAS KRAS PTPN11
47
Show member pathways
12.64 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
48
Show member pathways
12.61 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1
49
Show member pathways
12.59 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
50
Show member pathways
12.59 HRAS KRAS MAP2K1 MAP2K2 PTPN11 RAF1

GO Terms for Pulmonic Stenosis

Biological processes related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.95 BRAF HRAS KRAS MAP2K1
2 negative regulation of cell proliferation GO:0008285 9.89 HRAS IGFBP7 MAP2K1 NF1 RAF1
3 heart development GO:0007507 9.86 MAP2K1 NF1 PTPN11 RAF1
4 positive regulation of protein phosphorylation GO:0001934 9.83 HRAS KRAS RAF1
5 negative regulation of neuron apoptotic process GO:0043524 9.83 BRAF HRAS KRAS
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.82 HRAS KRAS RAF1
7 animal organ morphogenesis GO:0009887 9.81 BRAF HRAS JAG1
8 activation of MAPK activity GO:0000187 9.8 MAP2K1 MAP2K2 PTPN11
9 Ras protein signal transduction GO:0007265 9.76 HRAS KRAS NF1
10 somatic stem cell population maintenance GO:0035019 9.72 BRAF RAF1 ZIC3
11 epidermal growth factor receptor signaling pathway GO:0007173 9.7 HRAS KRAS PTPN11
12 cellular senescence GO:0090398 9.65 HRAS MAP2K1
13 visual learning GO:0008542 9.65 BRAF KRAS NF1
14 neurotrophin TRK receptor signaling pathway GO:0048011 9.63 PTPN11 RAF1
15 regulation of synaptic transmission, GABAergic GO:0032228 9.62 KRAS NF1
16 placenta blood vessel development GO:0060674 9.62 MAP2K1 NR2F2
17 response to isolation stress GO:0035900 9.61 HRAS KRAS
18 regulation of stress-activated MAPK cascade GO:0032872 9.61 MAP2K1 MAP2K2
19 thymus development GO:0048538 9.61 BRAF MAP2K1 RAF1
20 Bergmann glial cell differentiation GO:0060020 9.6 MAP2K1 PTPN11
21 positive regulation of production of miRNAs involved in gene silencing by miRNA GO:1903800 9.59 MAP2K1 MAP2K2
22 regulation of axon regeneration GO:0048679 9.58 BRAF MAP2K1
23 regulation of early endosome to late endosome transport GO:2000641 9.57 MAP2K1 MAP2K2
24 proteolysis in other organism GO:0035897 9.54 MAP2K1 MAP2K2
25 thyroid gland development GO:0030878 9.5 BRAF MAP2K1 RAF1
26 regulation of Golgi inheritance GO:0090170 9.46 MAP2K1 MAP2K2
27 regulation of long-term neuronal synaptic plasticity GO:0048169 9.43 HRAS KRAS NF1
28 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.43 BRAF HRAS MAP2K1 MAP2K2 PTPN11 RAF1
29 cerebellar cortex formation GO:0021697 9.4 MAP2K1 PTPN11
30 forebrain astrocyte development GO:0021897 9.37 KRAS NF1
31 face development GO:0060324 9.33 BRAF MAP2K1 RAF1
32 MAPK cascade GO:0000165 9.17 BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
33 signal transduction GO:0007165 10.11 BRAF DTNA HRAS KRAS MAP2K1 NF1

Molecular functions related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.77 BRAF DTNA HRAS IGFBP7 JAG1 KRAS
2 protein serine/threonine kinase activity GO:0004674 9.62 BRAF MAP2K1 MAP2K2 RAF1
3 protein serine/threonine kinase activator activity GO:0043539 9.4 MAP2K1 MAP2K2
4 small GTPase binding GO:0031267 9.37 BRAF RAF1
5 MAP kinase kinase activity GO:0004708 9.26 MAP2K1 MAP2K2
6 mitogen-activated protein kinase kinase binding GO:0031434 9.16 BRAF RAF1
7 nucleotide binding GO:0000166 9.1 BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1

Sources for Pulmonic Stenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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