MCID: PLM070
MIFTS: 46

Pulmonic Stenosis malady

Rare diseases category
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Summaries for Pulmonic Stenosis

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65Wikipedia, 33MalaCards
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Wikipedia:65 Pulmonic stenosis, also known as pulmonary stenosis, is a dynamic or fixed obstruction of flow from the... more...

MalaCards: Pulmonic Stenosis, also known as valvular pulmonic stenosis, is related to congenital heart disease and pulmonary valve stenosis. An important gene associated with Pulmonic Stenosis is IGFBP7 (insulin-like growth factor binding protein 7), and among its related pathways are Development Leptin signaling via JAK STAT and MAPK cascades and Development FGFR signaling pathway. The compounds trifluoroethanol and gppnhp have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and lung, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

Aliases & Classifications for Pulmonic Stenosis

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43NIH Rare Diseases, 62UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Aliases & Descriptions:

pulmonic stenosis 43
valvular pulmonic stenosis 43
pulmonary stenosis 62


Related Diseases for Pulmonic Stenosis

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17GeneCards, 18GeneDecks
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Diseases related to Pulmonic Stenosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 76)
idRelated DiseaseScoreTop Affiliating Genes
1congenital heart disease30.6JAG1, PTPN11
2pulmonary valve stenosis30.5ELN, JAG1, PTPN11
3leopard syndrome 130.3PTPN11
4noonan syndrome 130.3PTPN11
5mental retardation30.2PTPN11, ELN, HRAS, BRAF
6leopard syndrome30.1RAF1, PTPN11, HRAS
7cardiofaciocutaneous syndrome30.1PTPN11, HRAS, BRAF
8sarcoma30.1RAF1, BRAF, HRAS
9ventricular septal defect10.7
10double outlet right ventricle10.6
11tetralogy of fallot10.6
12hypertension10.5
13aneurysm10.5
14mediastinitis10.5
15patent ductus arteriosus10.5
16retinal arterial macroaneurysm with supravalvular pulmonic stenosis10.4
17pulmonary subvalvular stenosis10.3
18patent foramen ovale10.3
19watson syndrome10.3
20congestive heart failure10.3
21keutel syndrome10.3
22intrahepatic cholestasis10.1
23dextrocardia10.1
24portal hypertension10.1
25alagille syndrome10.1
26situs inversus10.1
27pulmonary edema10.1
28hemosiderosis10.1
29azoospermia10.1
30marfan syndrome10.1
31aortic aneurysm10.1
32cholestasis10.1
33chondrosarcoma10.1
34fibrosarcoma10.1
35myocardial infarction10.1
36seminoma10.1
37subvalvular aortic stenosis10.1
38tuberculosis10.1
39b-cell lymphomas10.1
40prune belly syndrome10.1
41x-linked visceral heterotaxy 110.1
42blindness10.1
43teratoma10.1
44right aortic arch10.1
45juvenile myelomonocytic leukemia10.0PTPN11, HRAS
46neurofibromatosis10.0HRAS, PTPN11
47spitz nevus10.0BRAF, HRAS
48nodular goiter10.0HRAS, BRAF
49thyroid adenoma10.0BRAF, RAF1
50skin benign neoplasm10.0HRAS, BRAF

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



Diseases related to pulmonic stenosis

Symptoms for Pulmonic Stenosis

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Drugs & Therapeutics for Pulmonic Stenosis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pulmonic Stenosis

Search NIH Clinical Center for Pulmonic Stenosis

Genetic Tests for Pulmonic Stenosis

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Anatomical Context for Pulmonic Stenosis

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33MalaCards
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MalaCards organs/tissues related to Pulmonic Stenosis:

33
Heart, Liver, Lung, B cells

Animal Models for Pulmonic Stenosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Pulmonic Stenosis:

37 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3IGFBP7, PTPN11, JAG1, RAF1, HRAS
2MP:00053708.0PTPN11, BRAF, JAG1, RAF1
3MP:00020068.0HRAS, RAF1, BRAF, PTPN11
4MP:00053697.8PTPN11, BRAF, JAG1, ELN, RAF1
5MP:00053827.8PTPN11, BRAF, JAG1, RAF1, HRAS
6MP:00053917.8PTPN11, BRAF, JAG1, RAF1
7MP:00107717.8PTPN11, BRAF, JAG1, RAF1, HRAS
8MP:00053887.8HRAS, RAF1, ELN, BRAF, PTPN11
9MP:00028737.7PTPN11, BRAF, JAG1, RAF1, HRAS
10MP:00036317.6HRAS, RAF1, JAG1, BRAF, PTPN11
11MP:00053907.4HRAS, RAF1, ELN, JAG1, BRAF, PTPN11
12MP:00053857.4PTPN11, BRAF, JAG1, ELN, RAF1, HRAS
13MP:00053767.2PTPN11, BRAF, JAG1, ELN, RAF1, HRAS
14MP:00107687.2PTPN11, BRAF, JAG1, ELN, RAF1, HRAS

Publications for Pulmonic Stenosis

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52PubMed
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Articles related to Pulmonic Stenosis:

(show top 50)    (show all 323)
idTitleAuthorsYear
1
Prevalence of patent foramen ovale with right-to-left shunting in dogs with pulmonic stenosis. (22151278)
2012
2
Massive dilatation of the pulmonary artery in association with pulmonic stenosis and pulmonary hypertension. (22837867)
2012
3
The relevance of echocardiography heart measures for breeding against the risk of subaortic and pulmonic stenosis in Boxer dogs. (21908643)
2012
4
Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis. (20720393)
2010
5
Partial anomalous pulmonary venous return presenting as pseudo-pulmonic stenosis. (19083893)
2007
6
Balloon valvuloplasty of valvular pulmonic stenosis in the dog. (16180401)
2005
7
ECG of the month. Pulmonic stenosis. (15154725)
2004
8
Pulmonic stenosis in dogs: balloon dilation improves clinical outcome. (15515581)
2004
9
Branchio-oculo-facial syndrome with valvular pulmonic stenosis. (15591681)
2004
10
Pathogenesis of single right coronary artery and pulmonic stenosis in English Bulldogs. (11300591)
2001
11
Pulmonic stenosis caused by single coronary artery in dogs: four cases (1965-1984). (2295544)
1990
12
Management of neonatal critical pulmonic stenosis in the balloon valvotomy era. (2306149)
1990
13
Congenital subvalvular pulmonic stenosis in a cat. (7190749)
1980
14
Frequency and direction of interatrial shunting in valvular pulmonic stenosis with intact ventricular septum and without left ventricular inflow or outflow obstruction. An analysis of 127 patients treated by valvulotomy. (7352396)
1980
15
Double-outlet right ventricle (S,D,D), VSD related to pulmonary artery, and pulmonic stenosis absent. Correction with an intraventricular conduit in infancy. (875443)
1977
16
Combined tricuspid and pulmonic stenosis. Clinical, echocardiographic, hemodynamic, surgical, and pathological features. (559886)
1977
17
USE OF AN EXTRACARDIAC CONDUIT IN THE REPAIR OF l-TRANSPOSITION WITH l-LOOPING ASSOCIATED WITH SEVERE SUBVALVULAR PULMONIC STENOSIS AND A VENTRICULAR SEPTAL DEFECT. (15216089)
1977
18
A patch-graft technique for correction of pulmonic stenosis in dogs. (789311)
1976
19
Giant blood cyst and congenital pulmonic stenosis. Report of a case. (1190181)
1975
20
Hypercyanotic spells (cyanotic crisis) in an infant with valvar pulmonic stenosis. (4768120)
1973
21
Pulmonic stenosis in the adult. Long-term follow-up results. (5082217)
1972
22
Myocardial infarction and pulmonic stenosis in a dog. (5105715)
1971
23
Pulmonary regurgitation with ventricular septal defect and pulmonic stenosis--tetralogy of Fallot variant. (5769310)
1969
24
Dilatation of the aorta and pulmonary artery with aortic and pulmonary insufficiency in the presence of a ventricular septal defect and infundibular pulmonic stenosis. Report of a case of forme fruste of the Marfan syndrome. (5923672)
1966
25
EFFECT OF CHRONICALLY INCREASED VENTRICULAR PRESSURE ON ELECTRICAL FORCES OF THE HEART. A CORRELATION BETWEEN HEMODYNAMIC AND VECTROCARDIOGRAPHIC DATA (FRANK SYSTEM) IN 90 PATIENTS WITH AORTIC OR PULMONIC STENOSIS. (14211813)
1964
26
THE FATE OF THE PATIENT WITH PULMONIC STENOSIS. (14211817)
1964
27
CONGENITAL PULMONIC STENOSIS COMPLICATING EBSTEIN'S ANOMALY OF THE TRICUSPID VALVE. (14222416)
1964
28
LEFT SUPERIOR VENA CAVA WITH ANOMALOUS INFERIOR VENA CAVA. REPORT OF A CASE WITH ASSOCIATED ATRIAL SEPTAL DEFECT AND PULMONIC STENOSIS, SUCCESSFULLY CORRECTED. (14056243)
1963
29
Calcific pulmonic stenosis. (13938996)
1963
30
Combined aortic and pulmonic stenosis. (14477792)
1962
31
Acquired pulmonic stenosis. Report of a case caused by mediastinal neoplasm. (13965836)
1962
32
An electrographic study of right ventricular hypertrophy in pulmonic stenosis. (13606054)
1959
33
Valvular pulmonic stenosis: ausculatory and phonocardiographic characteristics. (13594834)
1958
34
Dynamics of valvular pulmonic stenosis studied by needle puncture of pulmonary artery and right ventricle on the operating table. (13525307)
1958
35
Relative pulmonic stenosis. (13402715)
1957
36
Functional changes during high output failure produced by daily hemorrhage in dogs with pulmonic stenosis. (13447182)
1957
37
Experience in the surgical management of atrial septal defect and pulmonic stenosis under hypothermia. (13403184)
1957
38
Experiences in the surgical alleviation of congenital pulmonic stenosis. (14380099)
1955
39
Clinical and hemodynamic studies of congenital pulmonic stenosis with intact ventricular septum. (13171388)
1954
40
Hemodynamic effects of valvulotomy in pulmonic stenosis. (13082668)
1953
41
The problem of isolated valvular versus infundibular pulmonic stenosis with particular reference to cardiac catheterization data and records obtained at the time of operation. (13014127)
1953
42
The surgical treatment of pure pulmonic stenosis; a description of and expansible valvulotomy. (14855226)
1951
43
Changes in blood volume following operation for pulmonic stenosis: studies with Evans blue and radioactive phosphorus. (14869923)
1951
44
Aortic vascular rings encountered in the surgical treatment of congenital pulmonic stenosis. (15410299)
1950
45
Roentgenographic changes in pulmonic stenosis; a report of 9 cases. (15419338)
1950
46
The surgical treatment of congenital pulmonic stenosis. (20342447)
1947
47
The technique of creation of an artificial ductus arteriosus in the treatment of pulmonic stenosis. (20242212)
1947
48
The Blalock operation for congenital pulmonic stenosis; report of two successful cases. (20284738)
1947
49
The surgical treatment of congenital pulmonic stenosis. (21000853)
1946
50
Anesthesia in the surgical treatment of congenital pulmonic stenosis. (20996692)
1946

Variations for Pulmonic Stenosis

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Expression for genes affiliated with Pulmonic Stenosis

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pulmonic Stenosis

Search GEO for disease gene expression data for Pulmonic Stenosis.

Pathways for genes affiliated with Pulmonic Stenosis

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Sources:
50PathCards, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 30KEGG, 53QIAGEN, 61Tocris Bioscience, 51PharmGKB, 5Cell Signaling Technology, 54R&D Systems
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Pathways related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 98)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8RAF1, PTPN11, HRAS
2
Show member pathways
Development Flt3 signaling60
8.8HRAS, PTPN11, RAF1
38.8HRAS, RAF1, PTPN11
4
Show member pathways
EPO Receptor Signaling38
EPO signaling pathway38
8.8RAF1, HRAS, PTPN11
5
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)38
8.8HRAS, RAF1, PTPN11
6
Show member pathways
Immune response IL 3 activation and signaling pathway60
8.8PTPN11, HRAS, RAF1
78.8HRAS, RAF1, PTPN11
88.8PTPN11, HRAS, RAF1
98.8RAF1, HRAS, PTPN11
10
Show member pathways
8.8HRAS, PTPN11, RAF1
11
Show member pathways
8.8HRAS, RAF1, PTPN11
128.8PTPN11, RAF1, HRAS
13
Show member pathways
Prostate Cancer38
Integrated Cancer pathway38
Steroid Biosynthesis38
8.8PTPN11, RAF1, HRAS
148.8PTPN11, RAF1, HRAS
158.8PTPN11, RAF1, HRAS
168.8PTPN11, RAF1, HRAS
17
Show member pathways
IL-2 Signaling pathway38
8.8PTPN11, RAF1, HRAS
18
Show member pathways
8.6BRAF, HRAS, RAF1
19
Show member pathways
8.6BRAF, RAF1, HRAS
20
Show member pathways
Signal transduction PTEN pathway60
8.6HRAS, RAF1, BRAF
218.6BRAF, RAF1, HRAS
22
Show member pathways
PLK2 and PLK4 events38
Polo-like kinase signaling events in the cell cycle38
8.6RAF1, BRAF, HRAS
238.6HRAS, RAF1, BRAF
24
Show member pathways
8.6RAF1, HRAS, BRAF
25
Show member pathways
ErbB receptor signaling network38
ErbB signaling pathway38
8.6HRAS, BRAF, RAF1
26
Show member pathways
8.6BRAF, HRAS, RAF1
27
Show member pathways
Development Beta adrenergic receptors regulation of ERK60
G protein signaling G Protein alpha s signaling cascades60
G protein signaling G Protein beta gamma signaling cascades60
8.6HRAS, RAF1, BRAF
28
Show member pathways
RAC1 signaling pathway38
8.6HRAS, RAF1, BRAF
29
Show member pathways
8.6BRAF, RAF1, HRAS
308.6BRAF, HRAS, RAF1
31
Show member pathways
8.6BRAF, HRAS, RAF1
328.6BRAF, RAF1, HRAS
338.6BRAF, RAF1, HRAS
34
Show member pathways
8.5BRAF, RAF1, PTPN11
358.2HRAS, IGFBP7, RAF1, BRAF
36
Show member pathways
8.2BRAF, ELN, RAF1, HRAS
37
Show member pathways
8.2RAF1, HRAS, ELN, BRAF
38
Show member pathways
IL-9 Signaling Pathway38
Development Thrombopoietin regulated cell processes60
IL-7 Signaling Pathway38
Immune response IL 9 signaling pathway60
8.0BRAF, RAF1, HRAS, PTPN11
398.0HRAS, RAF1, BRAF, PTPN11
40
Show member pathways
8.0HRAS, BRAF, PTPN11, RAF1
41
Show member pathways
MAPK Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
8.0BRAF, RAF1, HRAS, PTPN11
42
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells38
8.0HRAS, RAF1, BRAF, PTPN11
43
Show member pathways
8.0PTPN11, BRAF, RAF1, HRAS
44
Show member pathways
8.0RAF1, BRAF, HRAS, PTPN11
45
Show member pathways
8.0PTPN11, BRAF, HRAS, RAF1
46
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
8.0BRAF, RAF1, PTPN11, HRAS
478.0HRAS, PTPN11, RAF1, BRAF
48
Show member pathways
Development EGFR signaling via PIP360
Development PDGF signaling via MAPK cascades60
Apoptosis and survival Anti apoptotic action of membrane bound ESR160
Signaling of Hepatocyte Growth Factor Receptor38
Development EGFR signaling via small GTPases60
Development Neurotrophin family signaling60
Apoptosis and survival NGF signaling pathway60
Apoptosis and survival Role of CDK5 in neuronal death and survival60
8.0BRAF, PTPN11, RAF1, HRAS
49
Show member pathways
Immune response CD16 signaling in NK cells60
8.0HRAS, PTPN11, RAF1, BRAF
507.6RAF1, HRAS, PTPN11, JAG1, BRAF

Compounds for genes affiliated with Pulmonic Stenosis

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Sources:
45Novoseek, 11DrugBank, 61Tocris Bioscience, 51PharmGKB, 29IUPHAR, 3BitterDB, 24HMDB
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Compounds related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1trifluoroethanol45 1110.8HRAS, ELN
2gppnhp459.8HRAS, RAF1
3phosphorothioate459.8HRAS, RAF1
4manumycin459.7RAF1, HRAS
5gdc 0879619.6BRAF, RAF1
6l-779,450619.6BRAF, RAF1
7gw 5074619.6BRAF, RAF1
8sb 590885619.6BRAF, RAF1
9gw-5074459.5BRAF, RAF1
10zm 33637261 4510.5RAF1, BRAF
11dabrafenib51 1110.5RAF1, BRAF
12regorafenib51 1110.4RAF1, BRAF
13sodium orthovanadate45 6110.4RAF1, PTPN11
14crcs459.3HRAS, BRAF
1517-(allylamino)-17-demethoxygeldanamycin459.3BRAF, RAF1
16herbimycin a45 6110.2HRAS, RAF1, PTPN11
17phosphotyrosine459.1PTPN11, RAF1, HRAS
18sorafenib45 51 1111.1RAF1, BRAF
19depsipeptide459.1BRAF, ELN, RAF1
20genistein45 29 61 3 24 1114.0ELN, RAF1, HRAS
2112-o-tetradecanoylphorbol 13-acetate458.9BRAF, RAF1, HRAS
22imatinib45 51 1110.9PTPN11, BRAF, RAF1
23phenylalanine458.9HRAS, BRAF, PTPN11
24paclitaxel45 51 1110.8HRAS, RAF1, BRAF
25pd 98,059458.8BRAF, RAF1, HRAS
26paraffin458.8HRAS, ELN, BRAF
27sb 20358045 619.8RAF1, BRAF, PTPN11
28h2o2458.7PTPN11, ELN, RAF1, HRAS
29cysteine458.6HRAS, RAF1, ELN, PTPN11
30forskolin45 51 1110.6PTPN11, BRAF, RAF1
31valine458.6BRAF, ELN, RAF1, HRAS
32aspartate458.6BRAF, ELN, RAF1, HRAS
33gtp45 299.5HRAS, RAF1, BRAF
34arginine458.4PTPN11, BRAF, ELN, HRAS
35ly294002458.4PTPN11, BRAF, RAF1, HRAS
36wortmannin458.4HRAS, RAF1, BRAF, PTPN11
37alanine458.4PTPN11, BRAF, ELN, RAF1
38phosphoinositide458.4PTPN11, BRAF, RAF1, HRAS
39glucose458.4IGFBP7, PTPN11, BRAF, HRAS
40cisplatin45 51 61 1111.4PTPN11, BRAF, RAF1, HRAS
41oligonucleotide458.4HRAS, RAF1, BRAF, PTPN11
42phosphatidylinositol458.3HRAS, RAF1, BRAF, PTPN11
43threonine458.3PTPN11, BRAF, RAF1, HRAS
44lysine458.3ELN, BRAF, PTPN11
45estrogen458.2IGFBP7, BRAF, ELN, RAF1, HRAS
46retinoic acid45 249.2HRAS, RAF1, ELN, BRAF, IGFBP7
47rapamycin458.0PTPN11, BRAF, ELN, RAF1, HRAS
48agar457.6HRAS, RAF1, ELN, BRAF, PTPN11, IGFBP7
49vegf457.6IGFBP7, PTPN11, BRAF, ELN, RAF1, HRAS
50serine457.6HRAS, RAF1, ELN, BRAF, PTPN11, IGFBP7

GO Terms for genes affiliated with Pulmonic Stenosis

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16Gene Ontology
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Biological processes related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1inner ear developmentGO:0488399.5IGFBP7, PTPN11
2positive regulation of peptidyl-serine phosphorylationGO:0331389.1RAF1, BRAF
3cell proliferationGO:0082839.0HRAS, RAF1, ELN
4insulin receptor signaling pathwayGO:0082869.0PTPN11, RAF1, HRAS
5Fc-epsilon receptor signaling pathwayGO:0380959.0HRAS, RAF1, PTPN11
6epidermal growth factor receptor signaling pathwayGO:0071739.0PTPN11, RAF1, HRAS
7negative regulation of cell proliferationGO:0082859.0HRAS, RAF1, IGFBP7
8axon guidanceGO:0074118.9PTPN11, RAF1, HRAS
9organ morphogenesisGO:0098878.9HRAS, ELN, BRAF
10activation of MAPKK activityGO:0001868.9BRAF, RAF1, HRAS
11small GTPase mediated signal transductionGO:0072648.8HRAS, RAF1, BRAF
12synaptic transmissionGO:0072688.3HRAS, RAF1, BRAF
13fibroblast growth factor receptor signaling pathwayGO:0085438.3HRAS, RAF1, BRAF, PTPN11
14neurotrophin TRK receptor signaling pathwayGO:0480118.3HRAS, RAF1, BRAF, PTPN11

Molecular functions related to Pulmonic Stenosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MAP kinase kinase kinase activityGO:0047099.1RAF1, BRAF
2small GTPase bindingGO:0312679.0RAF1, BRAF
3mitogen-activated protein kinase kinase bindingGO:0314348.8RAF1, BRAF
4protein bindingGO:0055156.7HRAS, IGFBP7, PTPN11, BRAF, JAG1, ELN

Products for genes affiliated with Pulmonic Stenosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pulmonic Stenosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet