Pulmonic Stenosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PLM070 MIFTS: 58	Pulmonic Stenosis Categories: Cardiovascular diseases, Fetal diseases, Rare diseases, Respiratory diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Pulmonic Stenosis

MalaCards integrated aliases for Pulmonic Stenosis:

Name: Pulmonic Stenosis ⁵⁷ ¹⁹ ⁷⁵ ²⁸ ⁵

Congenital Stenosis of Pulmonary Valve ⁵⁸ ³³

Congenital Pulmonary Valvar Stenosis ⁵⁸ ³³

Valvular Pulmonic Stenosis ¹⁹ ⁵

Congenital Pulmonary Valve Stricture ³³

Congenital Pulmonary Valve Stenosis ³³

Pulmonary Valve Stenosis ⁷¹

Pulmonary Stenosis ⁷¹

Characteristics:

Inheritance:

Pulmonic Stenosis: ? Autosomal recessive more likely multifactorial ⁵⁷

Congenital Pulmonary Valvar Stenosis: Multigenic/multifactorial ⁵⁸

Prevelance:

Congenital Pulmonary Valvar Stenosis: 1-5/10000 (France, Austria, Belgium, Croatia, Denmark, Italy, Malta, Norway, Poland, Portugal, Spain, United Kingdom, Ukraine, Europe) 6-9/10000 (Germany, Hungary, Switzerland) 1-9/100000 (Ireland, Netherlands) ⁵⁸

Age Of Onset:

Congenital Pulmonary Valvar Stenosis: Childhood,Infancy,Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the circulatory system

Congenital malformations of pulmonary and tricuspid valves

Congenital pulmonary valve stenosis

ICD11: ³³

Developmental anomalies

Structural developmental anomalies primarily affecting one body system

Structural developmental anomalies of the circulatory system

Structural developmental anomaly of heart or great vessels

Congenital anomaly of a ventriculo-arterial valve or adjacent regions

Congenital anomaly of pulmonary valve

Congenital pulmonary valvar stenosis

Orphanet: ⁵⁸

Rare circulatory system diseases

Rare cardiac malformations

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 265500

ICD10 ³¹ Q22.1

MESH via Orphanet ⁴⁴ D011666

ICD10 via Orphanet ³² Q22.1

UMLS via Orphanet ⁷² C0162164

Orphanet ⁵⁸ ORPHA3189

MedGen ⁴⁰ C1956257

SNOMED-CT via HPO ⁶⁹ 253366007 405752007 56786000 more

ICD11 ³³ 353180069

UMLS ⁷¹ C0034089 C1956257

Sources

Summaries for Pulmonic Stenosis

Orphanet: ⁵⁸ A rare congenital heart malformation characterized by an obstruction to flow through the pulmonary valve with a clinical presentation that may vary from critical stenosis presenting in the neonatal period to asymptomatic mild stenosis. The obstruction at the valvular level can be associated with obstruction at the subpulmonary, or supravalvar levels (valvar, subpulmonary, supravalvar pulmonary stenosis (PS).

MalaCards based summary: Pulmonic Stenosis, also known as congenital stenosis of pulmonary valve, is related to ventricular septal defect and double outlet right ventricle. An important gene associated with Pulmonic Stenosis is SOS1 (SOS Ras/Rac Guanine Nucleotide Exchange Factor 1), and among its related pathways/superpathways are Disease and ERK Signaling. The drugs Pharmaceutical Solutions and Parathyroid hormone have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related phenotypes are laryngeal stenosis and atrial septal defect

GARD: ¹⁹ Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.

Wikipedia: ⁷⁵ Pulmonic stenosis, is a dynamic or fixed obstruction of flow from the right ventricle of the heart to... more...

More information from OMIM: 265500

Sources

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 274)

#	Related Disease	Score	Top Affiliating Genes
1	ventricular septal defect	30.6	ZIC3 NR2F2 JAG1 GATA5 BRAF
2	double outlet right ventricle	30.5	ZIC3 NR2F2 JAG1 GATA5
3	cardiofaciocutaneous syndrome 1	30.5	SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
4	heart septal defect	30.4	ZIC3 SOS1 PTPN11 JAG1 GATA5
5	legius syndrome	30.2	NF1 HRAS
6	noonan syndrome with multiple lentigines	30.2	SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
7	costello syndrome	30.1	SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
8	atrioventricular septal defect	30.1	ZIC3 NR2F2 GATA5
9	atrial heart septal defect	30.1	ZIC3 SOS1 PTPN11 JAG1 GATA5
10	patent foramen ovale	30.0	ZIC3 SOS1 PTPN11 JAG1 GATA5
11	patent ductus arteriosus 1	30.0	ZIC3 SOS1 PTPN11 JAG1 GATA5
12	hydrops fetalis, nonimmune	30.0	PTPN11 KRAS HRAS
13	tetralogy of fallot	29.8	ZIC3 SOS1 PTPN11 NR2F2 JAG1 GATA5
14	pulmonary valve stenosis	29.7	ZIC3 SOS1 PTPN11 MAP2K2 MAP2K1 JAG1
15	noonan syndrome 1	29.6	ZIC3 SOS1 RAF1 PTPN11 NF1 MAP2K2
16	neurofibromatosis	29.2	SOS1 PTPN11 NF1 KRAS HRAS BRAF
17	neurofibromatosis-noonan syndrome	29.1	SOS1 PTPN11 NF1 MAP2K2 MAP2K1 HRAS
18	neurofibromatosis, type i	28.8	SOS1 RAF1 PTPN11 NF1 MAP2K1 KRAS
19	hypertrophic cardiomyopathy	28.7	SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
20	retinal arterial macroaneurysm with supravalvular pulmonic stenosis	11.9
21	watson syndrome	11.6
22	pulmonary subvalvular stenosis	11.5
23	keutel syndrome	11.4
24	alagille syndrome 1	11.3
25	long-thumb brachydactyly syndrome	11.3
26	leopard syndrome 1	11.3
27	mcdonough syndrome	11.3
28	prune belly syndrome with pulmonic stenosis, mental retardation, and deafness	11.2
29	pulmonic stenosis, atrial septal defect, and unique electrocardiographic abnormalities	11.2
30	pulmonic stenosis and deafness	11.2
31	pulmonic stenosis and congenital nephrosis	11.2
32	deafness, congenital heart defects, and posterior embryotoxon	11.1
33	heterotaxy, visceral, 1, x-linked	11.1
34	leopard syndrome 2	11.1
35	leopard syndrome 3	11.1
36	cardiofaciocutaneous syndrome 2	11.1
37	cardiofaciocutaneous syndrome 3	11.1
38	cardiofaciocutaneous syndrome 4	11.1
39	congenital heart defects, multiple types, 4	11.1
40	congenital heart defects, multiple types, 5	11.1
41	conotruncal heart malformations	10.4
42	congestive heart failure	10.4
43	interatrial communication	10.4
44	transposition of the great arteries, dextro-looped	10.3
45	atypical coarctation of aorta	10.3	NF1 JAG1
46	aortic valve disease 2	10.3
47	spitz nevus	10.3	HRAS BRAF
48	pilocytic astrocytoma of cerebellum	10.3	NF1 BRAF
49	conjunctival nevus	10.3	NF1 HRAS
50	trachea carcinoma in situ	10.3	KRAS HRAS

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

Sources

Symptoms & Phenotypes for Pulmonic Stenosis

Human phenotypes related to Pulmonic Stenosis:

⁵⁸ ³⁰

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	laryngeal stenosis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001602
2	atrial septal defect ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001631
3	malformation of the heart and great vessels ⁵⁸		Occasional (29-5%)
4	pulmonic stenosis ³⁰			HP:0001642

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Cardiac:
pulmonic stenosis

Clinical features from OMIM®:

265500 (Updated 08-Dec-2022)

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

²⁵ (show all 24)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-111	9.66	NF1
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-112	9.66	NF1
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.66	RAF1
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.66	SOS1
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-130	9.66	SOS1
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-148	9.66	SOS1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-149	9.66	BRAF NF1
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-150	9.66	RAF1
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	9.66	RAF1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-165	9.66	SOS1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-178	9.66	PTPN11
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-204	9.66	NF1
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-46	9.66	NF1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-47	9.66	BRAF
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-52	9.66	RAF1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-68	9.66	SOS1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-7	9.66	PTPN11
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-72	9.66	RAF1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-74	9.66	NF1
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-78	9.66	PTPN11
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-91	9.66	SOS1
22	shRNA abundance <= 50%	GR00343-S	9.56	KRAS MAP2K1 NF1 NR2F2 PTPN11 RAF1
23	Increased cell migration	GR00055-A-1	9.46	NF1
24	Increased cell migration	GR00055-A-3	9.46	NF1

MGI Mouse Phenotypes related to Pulmonic Stenosis:

⁴⁵ (show all 23)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.38	BRAF HRAS IGFBP7 JAG1 KRAS MAP2K1
2	homeostasis/metabolism	MP:0005376	10.37	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
3	endocrine/exocrine gland	MP:0005379	10.37	BRAF GATA5 HRAS IGFBP7 JAG1 KRAS
4	nervous system	MP:0003631	10.36	BRAF HRAS JAG1 KRAS MAP2K1 NF1
5	normal	MP:0002873	10.3	BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
6	muscle	MP:0005369	10.27	BRAF GATA5 HRAS JAG1 KRAS NF1
7	digestive/alimentary	MP:0005381	10.27	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
8	cellular	MP:0005384	10.27	BRAF GATA5 IGFBP7 JAG1 KRAS MAP2K1
9	craniofacial	MP:0005382	10.26	BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
10	cardiovascular system	MP:0005385	10.25	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
11	neoplasm	MP:0002006	10.21	BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
12	embryo	MP:0005380	10.21	BRAF JAG1 KRAS MAP2K1 NF1 NR2F2
13	hearing/vestibular/ear	MP:0005377	10.2	BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1
14	behavior/neurological	MP:0005386	10.18	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
15	no phenotypic analysis	MP:0003012	10.14	HRAS IGFBP7 JAG1 KRAS NR2F2 PTPN11
16	liver/biliary system	MP:0005370	10.11	BRAF JAG1 KRAS NF1 PTPN11 RAF1
17	skeleton	MP:0005390	10.07	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
18	reproductive system	MP:0005389	10.06	BRAF GATA5 IGFBP7 KRAS MAP2K1 MAP2K2
19	pigmentation	MP:0001186	10.01	BRAF KRAS NF1 NR2F2 PTPN11
20	vision/eye	MP:0005391	9.93	BRAF JAG1 KRAS MAP2K1 MAP2K2 NF1
21	respiratory system	MP:0005388	9.91	BRAF HRAS KRAS NF1 PTPN11 RAF1
22	mortality/aging	MP:0010768	9.8	BRAF GATA5 HRAS JAG1 KRAS MAP2K1
23	integument	MP:0010771	9.4	BRAF GATA5 HRAS IGFBP7 JAG1 KRAS

Sources

Drugs & Therapeutics for Pulmonic Stenosis

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

(show all 15)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Pharmaceutical Solutions

Phase 2

Parathyroid hormone

Approved, Investigational

9002-64-6

Sodium citrate

Approved, Investigational

68-04-2

23431961

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

Tannic acid

Approved

1401-55-4

16129878 16129778

Ketamine

Approved, Vet_approved

6740-88-1, 1867-66-9

3821

Sevoflurane

Approved, Vet_approved

28523-86-6

5206

Citric acid

Approved, Nutraceutical, Vet_approved

77-92-9

311

Hormones

Calcium, Dietary

Anticoagulants

Citrate

Chelating Agents

Anesthetics

Calcium

Nutraceutical

7440-70-2

271

Interventional clinical trials:

(show all 22)

#	Name	Status	NCT ID	Phase	Drugs
1	Optical Tissue Identification for Myocardial Architecture (OPTIMA Study)	Active, not 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	Reproduction and Survival After Cardiac Defect Repair	Completed	NCT00005190
5	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	Completed	NCT02555319
6	Follow Up on Freestyle Valves for Right Ventricular Outflow Tract Reconstruction in Children	Completed	NCT00385112
7	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
8	CryoValve SG Pulmonary Human Heart Valve Post Clearance Study	Completed	NCT01092442
9	Right Ventricle REmodeling After Pulmonary vAlve Replacement and Percutaneous Pulmonary Valve InseRtion, a Functional and Histopathological Assessment	Completed	NCT05090228
10	Implantation of the SAPIEN Transcatheter Heart Valve (THV) in the Pulmonic Position	Completed	NCT00676689
11	Pulmonary Arteriopathy; Evaluation of Invasive Treatments of Peripheral Pulmonary Stenosis in Terms of Right Ventricular Function and Patient Exercise Tolerance	Completed	NCT00266175
12	Implantation of the SAPIEN™ Transcatheter Heart Valve (THV) in the Pulmonic Position	Completed	NCT01356108
13	Pulmonary Artery Repair With Covered Stents	Completed	NCT01824160
14	Targeting Normoxia in Neonates With Cyanotic Congenital Heart Disease in the Intra-operative and Immediate Post-operative Period (T-NOX)	Recruiting	NCT04452188
15	New Enrollment SAPIEN XT Post-Approval Study	Active, not recruiting	NCT02987387
16	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
17	The PULSTA Transcatheter Pulmonary Valve (TPV) Pre-Approval Study	Active, not recruiting	NCT03983512
18	Evaluation of the GORE PV1 Device for Replacement of the Pulmonary Valve and Reconstruction of Right Ventricular Outflow Tract	Active, not recruiting	NCT03441971
19	Effect of Ketamine Versus Sevoflurane On The Right Ventricular Pressure During Congenital Pulmonary Stenosis Balloon Dilatation	Not yet recruiting	NCT05582213
20	Role of Echocardiography in the Assessment of Right Ventricular Function in the Pediatric Population With Valvular Pulmonary Stenosis After Percutaneous Balloon Pulmonary Valvuoplasty.	Not yet recruiting	NCT04960085
21	MASA Valve Early Feasibility Study	Not yet recruiting	NCT05452720
22	Clinical Management of Children With Mild Valvar Pulmonary Stenosis	Terminated	NCT00277927

Search NIH Clinical Center for Pulmonic Stenosis

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

Alprostadil

Sources

Genetic Tests for Pulmonic Stenosis

Genetic tests related to Pulmonic Stenosis:

#	Genetic test	Affiliating Genes
1	Pulmonic Stenosis ²⁸

Sources

Anatomical Context for Pulmonic Stenosis

Organs/tissues related to Pulmonic Stenosis:

MalaCards : Heart, Lung, Liver, Skin

Sources

Publications for Pulmonic Stenosis

Articles related to Pulmonic Stenosis:

(show top 50) (show all 890)

#	Title	Authors	PMID	Year
1	Familial congenital valvular pulmonic stenosis. ⁶² ⁵⁷	McCarron WE...Perloff JK	4852014	1974
2	A family with congenital pulmonary valve stenosis. ⁶² ⁵⁷	David TJ	4847731	1974
3	Hereditary dysplasia of the pulmonary valve in beagle dogs. Pathologic and genetic studies. ⁵⁷	Patterson DF...Schnarr WR	7468498	1981
4	Familial pulmonary stenosis with underdeveloped or normal right ventricle. ⁵⁷	Klinge T...Laursen HB	1111560	1975
5	Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1188 cases. ⁵⁷	LAMY M...SCHWEISGUTH O	13410899	1957
6	[Congenital pulmonary stenosis in two sisters]. ⁵⁷	COBLENTZ B...MATHIVAT A	12987021	1952
7	PPP2R1A neurodevelopmental disorder is associated with congenital heart defects. ⁶²	Baker EK...Weaver KN	36209351	2022
8	Pembrolizumab Improves Survival After Resection of Intracardiac Metastatic Cervical Carcinoma. ⁶²	Steely AM...Chu LM	35090858	2022
9	Pulmonary artery dissection following pulmonary balloon valvuloplasty in dogs. ⁶²	Mikulak H...Stauthammer CD	36370467	2022
10	Accuracy of physical examination of cardiovascular system in the diagnosis of common congenital heart diseases in children. ⁶²	Alawani SS...Kumar RK	36053582	2022
11	Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation. ⁶²	Onesimo R...Zampino G	35373511	2022
12	Outcome and right ventricle remodelling after valve replacement for pulmonic stenosis. ⁶²	Laflamme E...Alonso-Gonzalez R	34815333	2022
13	Retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome can be associated with coronary and major systemic arterial disease. ⁶²	Jomar DE...Nowilaty SR	35464689	2022
14	Right ventricular outflow tract anomalies: Neonatal interventions and outcomes. ⁶²	Arunamata A...Goldstein BH	35422353	2022
15	Effect of preoperative administration of atenolol to dogs with pulmonic stenosis undergoing interventional procedures. ⁶²	Gomart S...Borgeat K	35302255	2022
16	Acquired cyanosis secondary to RVOT obstruction due to pacemaker lead prolapse and vegetation in a child with ASD. ⁶²	Kumar R...Singh A	35911071	2022
17	Acute pulmonary edema in a dog with severe pulmonary valve stenosis: A rare complication after balloon valvuloplasty. ⁶²	Oricco S...Bussadori CM	34861639	2022
18	Retinal arteriolar macroaneurysms with supravalvular pulmonic stenosis in the United Arab Emirates. ⁶²	Khan AO...Abboud EB	34519236	2022
19	A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response. ⁶²	Strong A...Hakonarson H	34655156	2022
20	Right axis deviation in the canine electrocardiogram for predicting severity of pulmonic stenosis: a retrospective cohort analysis. ⁶²	Ackerman LH...Swift ST	35038304	2022
21	Cardiac Disease in Pregnancy: Hypertrophic Obstructive Cardiomyopathy and Pulmonic Stenosis. ⁶²	Arnolds DE...Chaney MA	33926782	2021
22	Transvalvular pulmonic stent angioplasty: procedural outcomes and complications in 15 dogs with pulmonic stenosis. ⁶²	Borgeat K...Payne JR	34653742	2021
23	Red blood cell abnormalities occur in dogs with congenital ventricular outflow tract obstruction. ⁶²	Passavin P...Deshuillers P	34936577	2021
24	Type B valvular and supravalvular pulmonic stenosis with aberrant pre-pulmonic right coronary artery diagnosed by non-electrocardiography-gated, multislice computed tomography in a Boston terrier. ⁶²	Kim J...Yoon J	34689048	2021
25	Sub-pulmonic stenosis caused by a right ventricular outflow tract vegetation in a children with restricted ventricular septal defect. ⁶²	Halder V...Azmeera S	33755205	2021
26	Outcomes of percutaneous balloon pulmonary valvuloplasty in congenital pulmonary valve stenosis. ⁶²	Yin D...Li M	34484754	2021
27	Immediate outcomes of low-pressure balloon valvuloplasty for severe pulmonary valve stenosis in 20 dogs: a retrospective, single-center case series. ⁶²	Gunasekaran T...Sanders RA	34144361	2021
28	Williams Syndrome With Rare Ureteric Abnormality. ⁶²	Khan J...Fan R	34540437	2021
29	Identification and Clinical Significance of Heart Murmurs in Puppies Involved in Puppy Trade. ⁶²	Pugliese M...Passantino A	34437461	2021
30	Balloon valvuloplasty in 2 juvenile alpacas with severe valvular pulmonic stenosis. ⁶²	Funk LL...Leach SB	34101907	2021
31	Coronary arterial compression testing by simultaneous balloon valvuloplasty and coronary angiography in an English bulldog with pulmonary valve stenosis. ⁶²	Morgan KRS...Gruenstein D	33951596	2021
32	Valvular heart disease in congenital heart disease: a narrative review. ⁶²	Saef JM...Ghobrial J	34295708	2021
33	Congenital Heart Disease in Dogs: A Retrospective Study of 95 Cases. ⁶²	Lucina SB...Froes TR	33346164	2021
34	Transcatheter pulmonic valve implantation: Techniques, current roles, and future implications. ⁶²	Law MA...Chatterjee A	34131475	2021
35	Senning With Aortic Translocation and Anatomic Repair for Congenitally Corrected Transposition. ⁶²	Tam VKH...Nikaidoh H	33045205	2021
36	Outcomes 60 years after surgical valvotomy for isolated congenital pulmonary valve stenosis. ⁶²	Sekhon S...Abarbanell AM	33522622	2021
37	Biventricular Pulsus Alternans in a Dog with Pulmonic Stenosis and Sepsis. ⁶²	Ware WA...Murphy S	33937597	2021
38	Supravalvar aortic stenosis: Imaging characteristics and associations on multidetector computed tomography angiography. ⁶²	Sinha M...Ramakrishnan S	33590497	2021
39	Immediate results of balloon valvuloplasty in congenital pulmonary valve stenosis. ⁶²	Bouhlel I...Naffati E	33899201	2021
40	Transoesophageal echocardiography-guided hybrid balloon valvuloplasty for severe pulmonic stenosis in small dogs. ⁶²	Uemura A...Yilmaz Z	33567831	2021
41	Expression Profile of Circulating MicroRNAs in Dogs With Cardiac Hypertrophy: A Pilot Study. ⁶²	Ro WB...Park HM	33898546	2021
42	Identification and Characterization of Circulating MicroRNAs as Novel Biomarkers in Dogs With Heart Diseases. ⁶²	Ro WB...Park HM	34708100	2021
43	Circulating Galectin-3 Evaluation in Dogs With Cardiac and Non-cardiac Diseases. ⁶²	Lee GW...Park HM	34722704	2021
44	Imperforate cor triatriatum dexter with patent foramen ovale and pulmonic stenosis in three dogs: Diagnostic findings and attempted surgical correction. ⁶²	Schrope DP...Galla J	33186877	2020
45	A novel hybrid stent technique to treat canine pulmonic stenosis. ⁶²	Swift ST...Fudge C	33031996	2020
46	Imaging characteristics and associations in twisted atrioventricular connections on multidetector computed tomography angiography. ⁶²	Sinha M...Kumar S	33111443	2020
47	Rare Case of Coincident Quadricuspid Pulmonic Valve and Suprapulmonic Ridge: Multimodality Imaging. ⁶²	Guo A...Srichai MB	34317137	2020
48	Left ventricular systolic function in dogs with pulmonic stenosis. ⁶²	Trikhun P...Buranakarl C	33363338	2020
49	The variety of phenotypes behind 'double outlet right ventricle': clinical and imaging presentations in four dogs and a cat. ⁶²	Chetboul V...Saponaro V	32980747	2020
50	Familial Retinal Arterial Macroaneurysms with Peripheral Retinal Ischemia: A Characterization on Ultra-Widefield Fluorescein Angiography. ⁶²	Alotaibi MD...Abu El-Asrar AM	33814820	2020

Sources

Genes for Pulmonic Stenosis

Genes related to Pulmonic Stenosis (2 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	400	Pathogenic ⁵
2	TMCO1	Transmembrane And Coiled-Coil Domains 1	Protein Coding	400	Pathogenic ⁵
3	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	32.88	Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)
4	ZNF526	Zinc Finger Protein 526	Protein Coding	25	Likely pathogenic ⁵
5	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	16.87	GeneCards inferred via : Disorders Publications (show sections)
6	IGFBP7	Insulin Like Growth Factor Binding Protein 7	Protein Coding	16.6	GeneCards inferred via : Disorders Publications (show sections)
7	NF1	Neurofibromin 1	Protein Coding	16.17	GeneCards inferred via : Disorders Publications (show sections)
8	GATA5	GATA Binding Protein 5	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
9	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
10	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
11	MAP2K1	Mitogen-Activated Protein Kinase Kinase 1	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
12	MAP2K2	Mitogen-Activated Protein Kinase Kinase 2	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
13	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
14	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
15	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)
16	ZIC3	Zic Family Member 3	Protein Coding	7.54	GeneCards inferred via : Disorders (show sections)

Sources

Variations for Pulmonic Stenosis

ClinVar genetic disease variations for Pulmonic Stenosis:

⁵ (show all 11)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 78 genes		DEL	Pathogenic	1684631		GRCh37: GRCh38: 18:69541066-80373285
2	SOS1	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SNV	Pathogenic	40672	rs397517148	GRCh37: 2:39250269-39250269 GRCh38: 2:39023128-39023128
3	TMCO1	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	SNV	Pathogenic	598963	rs765379963	GRCh37: 1:165712409-165712409 GRCh38: 1:165743172-165743172
4	ZNF526	NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)	SNV	Likely Pathogenic	183288	rs730882205	GRCh37: 19:42729034-42729034 GRCh38: 19:42224882-42224882
5	BRAF	NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)	SNV	Likely Pathogenic	13978	rs180177039	GRCh37: 7:140477806-140477806 GRCh38: 7:140778006-140778006
6	MYH11	NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro)	SNV	Uncertain Significance	492839	rs1555554139	GRCh37: 16:15820835-15820835 GRCh38: 16:15726978-15726978
7	CACNA1C	NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)	SNV	Uncertain Significance	190707	rs369483452	GRCh37: 12:2224416-2224416 GRCh38: 12:2115250-2115250
8	GATA4	NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	SNV	Uncertain Significance	9034	rs56208331	GRCh37: 8:11615928-11615928 GRCh38: 8:11758419-11758419
9	ARID1A	NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup)	MICROSAT	Uncertain Significance	992765	rs2080258350	GRCh37: 1:27023162-27023163 GRCh38: 1:26696671-26696672
10	SOX3	NM_005634.3(SOX3):c.735_737dup (p.Ala248dup)	DUP	Uncertain Significance	95305	rs398124211	GRCh37: X:139586488-139586489 GRCh38: X:140504323-140504324
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

Sources

Expression for Pulmonic Stenosis

Search GEO for disease gene expression data for Pulmonic Stenosis.

Sources

Pathways for Pulmonic Stenosis

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

(show top 50) (show all 183)

#	Super pathways	Score	Top Affiliating Genes
1	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.92	BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
2	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.9	SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
3	Signal Transduction ⁶⁶	13.9	SOS1 RAF1 PTPN11 NF1 MAP2K2 MAP2K1
4	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.78	ZIC3 SOS1 PTPN11 NR2F2 MAP2K2 MAP2K1
5	GPCR Pathway ⁶⁴ Show member pathways Breast Cancer Regulation by Stathmin1 ⁶⁴ Estrogen Pathway ⁶⁴ NFAT in Immune Response ⁶⁴ P2Y Receptor Signaling ⁶⁴ Pancreatic Adenocarcinoma ⁶⁴ Paxillin Interactions ⁶⁴ Ras Pathway ⁶⁴	13.75	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
6	MIF Mediated Glucocorticoid Regulation ⁶⁴ Show member pathways all-trans-Retinoic Acid Signaling in Brain ⁶⁴ Endothelin-1 Signaling Pathway ⁶⁴ Glucocorticoid Receptor Signaling ⁶⁴ IL-6 Pathway ⁶⁴ MIF Regulation of Innate Immune Cells ⁶⁴ NFAT Signaling and Lymphocyte Interactions ⁶⁴ Overview of proinflammatory and profibrotic mediators ⁷⁴ PEDF Induced Signaling ⁶⁴ PGC1Alpha Pathway ⁶⁴ RAR-Gamma-RXR-Alpha Degradation ⁶⁴ STAT3 Pathway ⁶⁴	13.68	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
7	TGF-Beta Pathway ⁶⁴ Show member pathways JAK-STAT Pathway ⁶⁴ JNK Pathway ⁶⁴ MAPK Family Pathway ⁶⁴ Regulation of eIF4 and p70S6K ⁶⁴ SOCS Pathway ⁶⁴	13.65	SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
8	Activation of cAMP-Dependent PKA ⁶⁴ Show member pathways Activation of PKA through GPCR ⁶⁴ cAMP Pathway ⁶⁴ PKA Signaling ⁶⁴	13.62	BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
9	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.61	BRAF HRAS KRAS MAP2K1 MAP2K2 NF1
10	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	13.52	BRAF HRAS JAG1 KRAS MAP2K1 MAP2K2
11	Integrin Pathway ⁶⁴ Show member pathways FAK1 Signaling ⁶⁴ GnRH Signaling ⁶⁴ Inhibition of Angiogenesis by TSP1 ⁶⁴ Transendothelial Migration of Leukocytes ⁶⁴ UPA-UPAR Pathway ⁶⁴	13.5	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
12	Nanog in Mammalian ESC Pluripotency ⁶⁴ Show member pathways 14-3-3 Induced Intracellular Signaling ⁶⁴ eNOS Signaling ⁶⁴ GSK3 Signaling ⁶⁴	13.4	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
13	CREB Pathway ⁶⁴ Show member pathways Activation of PKC through GPCR ⁶⁴ Intracellular Calcium Signaling ⁶⁴ IP3 Pathway ⁶⁴	13.39	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
14	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.36	SOS1 RAF1 PTPN11 KRAS HRAS GATA5
15	ADORA2B mediated anti-inflammatory cytokines production ⁶⁶ Show member pathways Alpha-Adrenergic Signaling ⁶⁴ Androgen receptor signaling pathway ⁷⁴ Anti-inflammatory response favouring Leishmania parasite infection ⁶⁶ Beta-agonist/Beta-blocker Pathway, Pharmacodynamics ⁶⁰ CD163 mediating an anti-inflammatory response ⁶⁶ Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation ²² G alpha (z) signalling events ⁶⁶ G protein signaling pathways ⁷⁴ Glucagon signaling in metabolic regulation ⁶⁶ GPER1 signaling ⁶⁶ Hedgehog Signaling in Mammals ⁶⁴ Leishmania infection ⁶⁶ Leishmania parasite growth and survival ⁶⁶ LTC4-CYSLTR mediated IL4 production ⁶⁶ Relaxin Pathway ⁶⁴ Signal transduction cAMP signaling ²²	13.34	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
16	Phospholipase-C Pathway ⁶⁴ Show member pathways PTEN Pathway ⁶⁴	13.22	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
17	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	13.17	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
18	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	13.09	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
19	TCR Signaling (Qiagen) ⁶⁴ Show member pathways Fc-EpsilonRI Pathway ⁶⁴ ITK and TCR Signaling ⁶⁴ PDGF Pathway ⁶⁴ PKC-Theta Pathway ⁶⁴	13.06	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
20	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	13.06	BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
21	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	13.06	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
22	NFAT and Cardiac Hypertrophy ⁶⁴ Show member pathways IGF1R Signaling ⁶⁴ Signaling Involved in Cardiac Hypertrophy ⁶⁴	13.04	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
23	IL-9 Signaling Pathways ⁶⁵ Show member pathways Adipocytokines and Insulin Signaling ⁶⁵ Common Cytokine Receptor Gamma-Chain Family Signaling Pathways ⁶⁵ Development Thrombopoietin-regulated cell processes ²² IL-15 Signaling Pathways ⁶⁵ IL-2 Signaling Pathways ⁶⁵ IL-21 Signaling Pathways ⁶⁵ IL-4 Pathway ⁶⁴ IL-4 Signaling Pathways ⁶⁵ IL-7 Signaling Pathways ⁶⁵ IL-9 Pathway ⁶⁴ Immune response IL-9 signaling pathway ²² Interleukin-9 signaling ⁶⁶	13.03	BRAF HRAS KRAS MAP2K1 MAP2K2 PTPN11
24	Toll-like receptor signaling pathway ⁷⁴ Show member pathways Hepatitis B infection ⁷⁴ Measles virus infection ⁷⁴ Regulation of toll-like receptor signaling pathway ⁷⁴	13.02	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
25	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	13.02	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
26	CCR5 Pathway in Macrophages ⁶⁴ Show member pathways Androgen Signaling ⁶⁴ Chemokine Signaling ⁶⁴ Chemokine signaling pathway ⁷⁴	13.01	SOS1 RAF1 MAP2K1 KRAS HRAS BRAF
27	Signaling by Receptor Tyrosine Kinases ⁶⁶	13.01	SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
28	Alzheimer's disease and miRNA effects ⁷⁴ Show member pathways Alzheimer's disease ⁷⁴	12.99	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
29	TNFR1 Pathway ⁶⁴ Show member pathways Apoptosis ⁷⁴ Apoptosis and survival TNFR1 signaling pathway ²² Apoptosis modulation by HSP70 ⁷⁴ Apoptosis through Death Receptors ⁶⁴ Apoptotic Pathways Triggered By HIV1 ⁶⁴ Ceramide signaling pathway ⁶¹ DR3 Signaling ⁶⁴ GITR Pathway ⁶⁴ HIV-1 Nef: Negative effector of Fas and TNF-alpha ⁶¹ Stimulation of the cell death response by PAK-2p34 ⁶⁶ TNF Signaling ⁶⁴ TNF-related weak inducer of apoptosis (TWEAK) signaling pathway ⁷⁴ TRAIL Pathway ⁶⁴ TWEAK Pathway ⁶⁴	12.98	SOS1 RAF1 MAP2K2 MAP2K1 HRAS
30	fMLP Pathway ⁶⁴ Show member pathways CXCR4 Pathway ⁶⁴ Huntington's Disease Pathway ⁶⁴ Internalin Pathway ⁶⁴ Signal transduction Activation of PKC via G-Protein coupled receptor ²²	12.94	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
31	Translation Insulin regulation of translation ²² Show member pathways Butyrate-induced histone acetylation ⁷⁴ Cell adhesion PLAU signaling ²² Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² Overview of perturbations to host-cell autophagy, induced by distinct proteins of SARS-CoV-2 ⁷⁴ Regulation of lipid metabolism Insulin signaling-generic cascades ²² Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation inhibitors in chronically activated PDGFRA cells ⁷⁴	12.91	SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 HRAS
32	MAPK-Erk Pathway ⁶⁷ Show member pathways Actin Dynamics Signaling Pathway ⁶⁷ G Protein-coupled Receptors Signaling ⁶⁷	12.91	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
33	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.87	SOS1 RAF1 NF1 MAP2K2 MAP2K1 KRAS
34	G-protein signaling G-Protein alpha-i signaling cascades ²² Show member pathways Development Beta-adrenergic receptors regulation of ERK ²² G-protein signaling G-Protein alpha-s signaling cascades ²² G-protein signaling G-Protein beta/gamma signaling cascades ²² Signaling in Gap Junctions ⁶⁴	12.86	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS
35	G-Beta Gamma Signaling ⁶⁴ Show member pathways CRHR Pathway ⁶⁴ GHRH Signaling ⁶⁴	12.85	BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1
36	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.84	SOS1 RAF1 MAP2K2 MAP2K1 KRAS BRAF
37	4-1BB Pathway ⁶⁴ Show member pathways CD27 Pathway ⁶⁴ CD40 Signaling ⁶⁴ CMV and MAPK Pathways ⁶⁴ NF-KappaB Activation by EBV ⁶⁴ NF-kappaB Activation by Viruses ⁶⁴ PKR Pathway ⁶⁴ SUMO Pathway ⁶⁴ TNFR2 Pathway ⁶⁴	12.84	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
38	CNTF Signaling ⁶⁴ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ FLT3 Signaling ⁶⁴ G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Host-pathogen interaction of human coronaviruses - MAPK signaling ⁷⁴ IL-3 Pathway ⁶⁴ Immune response Oncostatin M signaling via MAPK in human cells ²² Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cells ⁷⁴ MAPK cascade ⁷⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.84	SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
39	G-AlphaQ Signaling ⁶⁴ Show member pathways G-AlphaI Signaling ⁶⁴ PAR4-mediated thrombin signaling events ⁶¹ Thrombin Signaling ⁶⁴	12.84	BRAF GATA5 HRAS KRAS MAP2K1 MAP2K2
40	Signaling downstream of RAS mutants ⁶⁶ Show member pathways MAP2K and MAPK activation ⁶⁶ Negative regulation of MAPK pathway ⁶⁶ Paradoxical activation of RAF signaling by kinase inactive BRAF ⁶⁶ RAF activation ⁶⁶ Signaling by high-kinase activity BRAF mutants ⁶⁶ Signaling by moderate kinase activity BRAF mutants ⁶⁶ Signaling by RAF1 mutants ⁶⁶ Signaling by RAS mutants ⁶⁶	12.83	RAF1 MAP2K2 MAP2K1 KRAS HRAS BRAF
41	Malignant pleural mesothelioma ⁷⁴	12.82	SOS1 RAF1 MAP2K2 MAP2K1 HRAS
42	IL-1 Family Signaling Pathways ⁶⁵ Show member pathways IL1 signaling pathway ⁶⁷ Immune response IL-1 signaling pathway ²² Interleukin-1 (IL-1) structural pathway ⁷⁴ Interleukin-33 signaling ⁶⁶ Interleukin-36 pathway ⁶⁶ Mucin expression in CF via TLRs, EGFR signaling pathways ²² Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways ⁶⁵	12.81	SOS1 RAF1 PTPN11 MAP2K2 MAP2K1 KRAS
43	Overview of interferons-mediated signaling pathway ⁷⁴ Show member pathways all-trans-Retinoic Acid Mediated Apoptosis ⁶⁴ Cytokine Network ⁶⁴ Immune response IFN alpha/beta signaling pathway ²² Interferon alpha/beta signaling ⁶⁶ Jak/STAT Signaling Pathway ⁶⁵ Regulation of IFNA/IFNB signaling ⁶⁶ Type III interferon signaling ⁷⁴	12.78	RAF1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
44	TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions ⁶⁵ Show member pathways 14-3-3 Induced Apoptosis ⁶⁴ TNF Superfamily Pathway ⁶⁴ TNFs bind their physiological receptors ⁶⁶ TRAF Pathway ⁶⁴	12.75	SOS1 RAF1 MAP2K2 MAP2K1 HRAS
45	Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases ²² Show member pathways Cell adhesion Integrin-mediated cell adhesion and migration ²² Cell adhesion Tight junctions ²² Cytoskeleton remodeling Integrin outside-in signaling ²² Development MAG-dependent inhibition of neurite outgrowth ²²	12.75	SOS1 RAF1 MAP2K2 MAP2K1 HRAS
46	Signaling by NTRKs ⁶⁶ Show member pathways Activated NTRK3 signals through PI3K ⁶⁶ Activated NTRK3 signals through PLCG1 ⁶⁶ Activated NTRK3 signals through RAS ⁶⁶ Activation of TRKA receptors ⁶⁶ NGF-independant TRKA activation ⁶⁶ NTF3 activates NTRK3 signaling ⁶⁶ NTRK3 as a dependence receptor ⁶⁶ PI3K/AKT activation ⁶⁶ Retrograde neurotrophin signalling ⁶⁶ Signaling by NTRK1 (TRKA) ⁶⁶ Signaling by NTRK3 (TRKC) ⁶⁶	12.74	SOS1 PTPN11 MAP2K2 MAP2K1 KRAS HRAS
47	Negative regulation of FGFR1 signaling ⁶⁶ Show member pathways FGFR1 ligand binding and activation ⁶⁶ FGFR1b ligand binding and activation ⁶⁶ FGFR1c and Klotho ligand binding and activation ⁶⁶ FGFR1c ligand binding and activation ⁶⁶ FGFRL1 modulation of FGFR1 signaling ⁶⁶ Negative regulation of FGFR2 signaling ⁶⁶ Negative regulation of FGFR3 signaling ⁶⁶ Negative regulation of FGFR4 signaling ⁶⁶ Signaling by activated point mutants of FGFR1 ⁶⁶ Signaling by FGFR1 ⁶⁶ Signaling by FGFR1 amplification mutants ⁶⁶ Signaling by FGFR3 ⁶⁶ Signaling by FGFR4 ⁶⁶ Spry regulation of FGF signaling ⁶⁶	12.73	SOS1 PTPN11 KRAS HRAS BRAF
48	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	12.71	HRAS MAP2K1 MAP2K2 PTPN11 RAF1 SOS1
49	Semaphorin interactions ⁶⁶ Show member pathways CRMPs in Sema3A signaling ⁶⁶ Other semaphorin interactions ⁶⁶ RHO GTPases activate CIT ⁶⁶ RHO GTPases activate PAKs ⁶⁶ RHO GTPases Activate ROCKs ⁶⁶ Sema3A PAK dependent Axon repulsion ⁶⁶ SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion ⁶⁶ Sema4D in semaphorin signaling ⁶⁶ Sema4D induced cell migration and growth-cone collapse ⁶⁶ Sema4D mediated inhibition of cell attachment and migration ⁶⁶ Semaphorin Signaling ⁶⁴	12.7	SOS1 RAF1 NF1 MAP2K2 MAP2K1 BRAF
50	Development EGFR signaling pathway ²² Show member pathways Development ERBB-family signaling ²² EGF Pathway ⁶⁴ EGFR Signaling Pathway ⁶⁷ ErbB receptor signaling network ⁶¹	12.68	BRAF HRAS KRAS MAP2K1 MAP2K2 RAF1

Sources

GO Terms for Pulmonic Stenosis

Cellular components related to Pulmonic Stenosis according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	GTPase complex	GO:1905360	8.92	SOS1 HRAS

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

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	10.26	MAP2K2 MAP2K1 KRAS HRAS GATA5 BRAF
2	positive regulation of MAPK cascade	GO:0043410	10.14	HRAS MAP2K1 MAP2K2 RAF1
3	regulation of cell population proliferation	GO:0042127	10.13	SOS1 NF1 JAG1 HRAS BRAF
4	Ras protein signal transduction	GO:0007265	10.11	SOS1 NF1 KRAS HRAS
5	heart development	GO:0007507	10.1	ZIC3 PTPN11 NF1 MAP2K2 MAP2K1 GATA5
6	ERK1 and ERK2 cascade	GO:0070371	10.09	MAP2K2 MAP2K1 BRAF
7	visual learning	GO:0008542	10.07	NF1 KRAS BRAF
8	epidermal growth factor receptor signaling pathway	GO:0007173	10.06	SOS1 PTPN11 BRAF
9	thymus development	GO:0048538	10.03	BRAF MAP2K1 MAP2K2 RAF1
10	positive regulation of axonogenesis	GO:0050772	10.02	MAP2K2 MAP2K1 BRAF
11	regulation of long-term neuronal synaptic plasticity	GO:0048169	9.97	HRAS KRAS NF1
12	neurotrophin TRK receptor signaling pathway	GO:0048011	9.93	SOS1 RAF1 PTPN11
13	regulation of early endosome to late endosome transport	GO:2000641	9.92	MAP2K2 MAP2K1
14	thyroid gland development	GO:0030878	9.92	BRAF MAP2K1 MAP2K2 RAF1
15	trachea formation	GO:0060440	9.91	MAP2K2 MAP2K1
16	epithelial cell proliferation involved in lung morphogenesis	GO:0060502	9.88	MAP2K1 MAP2K2
17	regulation of Golgi inheritance	GO:0090170	9.87	MAP2K1 MAP2K2
18	cerebellar cortex formation	GO:0021697	9.84	PTPN11 MAP2K1
19	forebrain astrocyte development	GO:0021897	9.83	NF1 KRAS
20	insulin receptor signaling pathway	GO:0008286	9.8	SOS1 RAF1 HRAS
21	MAPK cascade	GO:0000165	9.8	RAF1 NF1 MAP2K2 MAP2K1 KRAS HRAS
22	regulation of axon regeneration	GO:0048679	9.77	MAP2K2 MAP2K1 BRAF
23	positive regulation of protein serine/threonine kinase activity	GO:0071902	9.7	SOS1 RAF1 MAP2K2 MAP2K1 KRAS
24	positive regulation of miRNA maturation	GO:1903800	9.61	MAP2K2 MAP2K1
25	insulin-like growth factor receptor signaling pathway	GO:0048009	9.56	SOS1 RAF1 MAP2K2 MAP2K1
26	face development	GO:0060324	9.32	ZIC3 RAF1 MAP2K2 MAP2K1 BRAF

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

#	Name	GO ID	Score	Top Affiliating Genes
1	scaffold protein binding	GO:0097110	9.63	MAP2K2 MAP2K1 BRAF
2	MAP kinase kinase activity	GO:0004708	9.43	MAP2K2 MAP2K1 BRAF
3	protein serine/threonine kinase activator activity	GO:0043539	9.23	SOS1 RAF1 MAP2K2 MAP2K1 KRAS HRAS