MCID: PLM070
MIFTS: 37

Pulmonic Stenosis malady

Summaries for Pulmonic Stenosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 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 pulmonary valve stenosis and noonan syndrome. An important gene associated with Pulmonic Stenosis is ZIC3 (Zic family member 3), and among its related pathways are Nongenotropic Androgen signaling and FGFR2c ligand binding and activation. The compounds estrogen and gppnhp have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are embryogenesis and renal/urinary system.

Aliases & Classifications for Pulmonic Stenosis

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

pulmonic stenosis 42
valvular pulmonic stenosis 42
pulmonary stenosis 60


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 143)
idRelated DiseaseScoreTop Affiliating Genes
1pulmonary valve stenosis30.8ELN, JAG1, PTPN11
2noonan syndrome30.1PTPN11, KRAS, RAF1, HRAS, MAP2K1, MAP2K2
3congenital heart defect30.1ZIC3, PTPN11, JAG1
4fibrosarcoma30.1MAP2K1, RAF1
5leopard syndrome30.1PTPN11, RAF1, HRAS
6cardiofaciocutaneous syndrome30.0KRAS, MAP2K1, MAP2K2, BRAF
7sarcoma30.0BRAF, NF1, HRAS, RAF1, KRAS
8neurofibromatosis29.8PTPN11, HRAS, NF1, KRAS
9ventricular septal defect10.7
10double outlet right ventricle10.6
11coronary stenosis10.5
12tetralogy of fallot10.5
13hypertension10.5
14mediastinitis10.5
15patent ductus arteriosus10.4
16pulmonary subvalvular stenosis10.4
17subvalvular aortic stenosis10.4
18watson syndrome10.4
19retinal arterial macroaneurysm with supravalvular pulmonic stenosis10.4
20patent foramen ovale10.3
21congestive heart failure10.3
22atrioventricular septal defect10.2
23heart septal defect10.2
24keutel syndrome10.2
25hypoplastic left heart syndrome10.1
26williams syndrome10.1
27marfan syndrome10.1
28pulmonary tuberculosis10.1
29intrahepatic cholestasis10.1
30supravalvular aortic stenosis10.1
31pulmonary edema10.1
32hemosiderosis10.1
33tricuspid valve stenosis10.1
34dextrocardia10.1
35portal hypertension10.1
36alagille syndrome10.1
37situs inversus10.1
38azoospermia10.1
39aortic aneurysm10.1
40atrial heart septal defect10.1
41cholestasis10.1
42chondrosarcoma10.1
43hodgkin's lymphoma10.1
44myocardial infarction10.1
45seminoma10.1
46tuberculosis10.1
47x-linked visceral heterotaxy 110.1
48noonan syndrome 110.1
49leopard syndrome 110.1
50takayasu's arteritis10.1

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



Diseases related to pulmonic stenosis

Clinical Features for Pulmonic Stenosis

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Drugs & Therapeutics for Pulmonic Stenosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Pulmonic Stenosis

Drug clinical trials:

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Search NIH Clinical Center for Pulmonic Stenosis

Search CenterWatch for Pulmonic Stenosis

Genetic Tests for Pulmonic Stenosis

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Anatomical Context for Pulmonic Stenosis

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32MalaCards
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MalaCards organs/tissues related to Pulmonic Stenosis:

32
Heart

Animal Models for Pulmonic Stenosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Pulmonic Stenosis:

36 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538010.5ZIC3
2MP:000536710.2JAG1
3MP:00011869.4NF1
4MP:00053719.3DTNA, ZIC3, PTPN11
5MP:00053919.2ZIC3, JAG1, MAP2K2, MAP2K1, RAF1
6MP:00053908.8DTNA, ZIC3, NF1, HRAS
7MP:00107718.5JAG1, MAP2K2, MAP2K1, HRAS, RAF1, KRAS
8MP:00053798.3NF1, MAP2K1, HRAS, KRAS, PTPN11
9MP:00053778.2ZIC3, JAG1, NF1, MAP2K2, MAP2K1, PTPN11
10MP:00053768.2JAG1, NF1, MAP2K2, MAP2K1, PTPN11, ELN
11MP:00053888.0ZIC3, NF1, RAF1, KRAS, PTPN11, ELN
12MP:00053817.9ZIC3, BRAF, JAG1, MAP2K2, MAP2K1, KRAS
13MP:00036317.6DTNA, ZIC3, NF1, MAP2K1, HRAS, RAF1
14MP:00053707.3ZIC3, BRAF, JAG1, NF1, RAF1, KRAS
15MP:00053977.0ZIC3, BRAF, JAG1, NF1, RAF1, KRAS
16MP:00053827.0ZIC3, BRAF, JAG1, NF1, MAP2K2, MAP2K1
17MP:00020067.0BRAF, NF1, MAP2K2, MAP2K1, HRAS, RAF1
18MP:00053696.9DTNA, BRAF, JAG1, NF1, RAF1, KRAS
19MP:00053866.8DTNA, ZIC3, BRAF, JAG1, NF1, HRAS
20MP:00053846.8BRAF, JAG1, NF1, MAP2K2, MAP2K1, RAF1
21MP:00028736.5ZIC3, BRAF, JAG1, NF1, MAP2K2, MAP2K1
22MP:00053856.0ELN, DTNA, ZIC3, BRAF, JAG1, NF1
23MP:00053785.9DTNA, ZIC3, BRAF, JAG1, NF1, MAP2K2
24MP:00107685.6DTNA, ZIC3, BRAF, JAG1, NF1, MAP2K2

Publications for Pulmonic Stenosis

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Genetic Variations for Pulmonic Stenosis

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Expression for genes affiliated with Pulmonic Stenosis

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1BioGPS, 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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37NCBI BioSystems Database, 53Reactome, 12EMD Millipore, 55SinoBiological, 49PharmGKB, 51QIAGEN, 59Tocris Bioscience, 29KEGG, 52R&D Systems, 4Cell Signaling Technology
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Pathways related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 159)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0MAP2K1, HRAS, RAF1, MAP2K2
2
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8.7PTPN11, RAF1, KRAS, HRAS
3
Immune response IL-6 signaling pathway
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8.6PTPN11, RAF1, HRAS, MAP2K1, MAP2K2
4
Immune response IL-2 activation and signaling pathway
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8.6RAF1, MAP2K2, MAP2K1, HRAS, PTPN11
58.6HRAS, PTPN11, RAF1, MAP2K1, MAP2K2
6
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8.6MAP2K2, PTPN11, RAF1, HRAS, MAP2K1
7
Development EPO-induced Jak-STAT pathway
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8.6RAF1, MAP2K1, MAP2K2, HRAS, PTPN11
8
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8.6MAP2K2, MAP2K1, HRAS, PTPN11, RAF1
98.6MAP2K2, RAF1, HRAS, MAP2K1, PTPN11
108.5KRAS, HRAS, MAP2K1, MAP2K2, RAF1
11
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8.5RAF1, KRAS, MAP2K2, MAP2K1, HRAS
12
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8.5KRAS, RAF1, HRAS, MAP2K1, MAP2K2
138.5MAP2K2, MAP2K1, HRAS, RAF1, KRAS
14
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8.5MAP2K2, MAP2K1, HRAS, RAF1, KRAS
158.4PTPN11, MAP2K2, KRAS, RAF1, HRAS
16
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8.4HRAS, MAP2K1, MAP2K2, BRAF, RAF1
17
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8.4RAF1, MAP2K2, HRAS, MAP2K1, BRAF
188.3HRAS, MAP2K1, BRAF, KRAS, MAP2K2
198.2RAF1, KRAS, BRAF, MAP2K2, MAP2K1
20
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8.1MAP2K2, KRAS, RAF1, HRAS, MAP2K1, PTPN11
21
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8.1HRAS, RAF1, KRAS, PTPN11, MAP2K2, MAP2K1
22
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8.1KRAS, PTPN11, HRAS, MAP2K1, RAF1, MAP2K2
23
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8.1RAF1, HRAS, MAP2K1, MAP2K2, KRAS, PTPN11
24
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8.1MAP2K2, MAP2K1, KRAS, HRAS, PTPN11, RAF1
258.1KRAS, PTPN11, MAP2K2, MAP2K1, HRAS, RAF1
26
Development Prolactin receptor signaling
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8.1RAF1, HRAS, MAP2K1, MAP2K2, KRAS, PTPN11
27
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7.9BRAF, RAF1, NF1, MAP2K2, MAP2K1
28
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7.9KRAS, HRAS, MAP2K1, MAP2K2, BRAF, RAF1
29
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7.9HRAS, KRAS, MAP2K1, RAF1, BRAF, MAP2K2
30
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7.9MAP2K1, RAF1, KRAS, MAP2K2, BRAF, HRAS
31
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7.9KRAS, BRAF, RAF1, HRAS, MAP2K1, MAP2K2
327.9MAP2K1, MAP2K2, RAF1, KRAS, BRAF, HRAS
33
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7.9KRAS, MAP2K1, BRAF, MAP2K2, HRAS, RAF1
34
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7.9BRAF, MAP2K2, HRAS, MAP2K1, RAF1, KRAS
35
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7.9KRAS, BRAF, MAP2K2, HRAS, RAF1, MAP2K1
36
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7.9BRAF, MAP2K1, KRAS, RAF1, HRAS, MAP2K2
37
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7.9BRAF, MAP2K2, HRAS, RAF1, KRAS, MAP2K1
387.8MAP2K2, MAP2K1, RAF1, KRAS, PTPN11, BRAF
397.6NF1, BRAF, MAP2K2, MAP2K1, HRAS, RAF1
40
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7.4PTPN11, KRAS, MAP2K2, BRAF, HRAS, MAP2K1
417.4HRAS, MAP2K1, MAP2K2, BRAF, PTPN11, KRAS
42
Translation Insulin regulation of translation
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7.4KRAS, RAF1, PTPN11, HRAS, BRAF, MAP2K2
43
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7.4KRAS, HRAS, MAP2K2, PTPN11, BRAF, RAF1
44
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7.4HRAS, MAP2K1, BRAF, MAP2K2, RAF1, KRAS
45
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7.4MAP2K2, KRAS, RAF1, HRAS, MAP2K1, PTPN11
46
G-protein signaling Ras family GTPases in kinase cascades (scheme)
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7.4RAF1, HRAS, MAP2K1, PTPN11, KRAS, MAP2K2
47
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7.4MAP2K2, MAP2K1, HRAS, RAF1, KRAS, PTPN11
48
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7.0MAP2K2, NF1, BRAF, KRAS, MAP2K1, HRAS
49
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7.0BRAF, NF1, MAP2K2, HRAS, MAP2K1, KRAS
50
Hide members
6.6RAF1, KRAS, HRAS, MAP2K1, MAP2K2, BRAF

Compounds for genes affiliated with Pulmonic Stenosis

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44Novoseek, 59Tocris Bioscience, 49PharmGKB, 11DrugBank, 24HMDB, 28IUPHAR
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Compounds related to Pulmonic Stenosis according to GeneCards/GeneDecks:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1estrogen449.8ELN, NF1
2gppnhp449.7RAF1, HRAS
3gdc 0879599.7BRAF, RAF1
4sb 590885599.7RAF1, BRAF
5l-779,450599.7BRAF, RAF1
6gw 5074599.7BRAF, RAF1
7manumycin449.7RAF1, HRAS, MAP2K1
8gw-5074449.7BRAF, RAF1
9zm 33637244 5910.7BRAF, RAF1
10panitumumab44 49 1111.6KRAS, BRAF
11pd-184352449.5RAF1, MAP2K1, KRAS
12depsipeptide449.4BRAF, ELN, RAF1
13Dabrafenib119.4BRAF, RAF1
1417-(allylamino)-17-demethoxygeldanamycin449.4MAP2K1, RAF1, BRAF
15crcs449.3KRAS, HRAS, BRAF
16ag 1478449.3MAP2K1, PTPN11, RAF1
17herbimycin a44 5910.3PTPN11, HRAS, MAP2K1, RAF1
18gp 130449.2MAP2K1, HRAS, PTPN11
19phosphotyrosine449.1HRAS, MAP2K1, RAF1, PTPN11
20guanosine44 11 2411.1NF1, MAP2K1, HRAS
21lovastatin44 49 59 28 1113.0RAF1, MAP2K1, HRAS
2212-o-tetradecanoylphorbol 13-acetate448.9BRAF, RAF1, HRAS, MAP2K1
23pd 98,059448.8MAP2K2, HRAS, RAF1, MAP2K1, BRAF
24nitric oxide44 11 2410.8HRAS, MAP2K1, MAP2K2, JAG1, PTPN11
25sb 20358044 599.8RAF1, MAP2K1, BRAF, PTPN11
26valine448.7HRAS, BRAF, RAF1, KRAS, ELN
27paclitaxel44 49 1110.6KRAS, RAF1, HRAS, MAP2K1, BRAF
28imatinib44 49 1110.5KRAS, BRAF, MAP2K1, PTPN11, RAF1
29h2o2448.5HRAS, KRAS, PTPN11, RAF1, ELN, MAP2K1
30threonine448.3MAP2K1, BRAF, MAP2K2, HRAS, RAF1, PTPN11
31lysine448.3ELN, PTPN11, MAP2K1, NF1, BRAF
32paraffin448.3BRAF, NF1, KRAS, ELN, HRAS
33forskolin44 49 1110.2NF1, MAP2K1, PTPN11, RAF1, BRAF
34ly294002448.2PTPN11, KRAS, RAF1, BRAF, HRAS, MAP2K1
35cisplatin44 49 59 1111.2PTPN11, RAF1, HRAS, MAP2K1, BRAF, KRAS
36cyclic amp44 249.1MAP2K1, RAF1, NF1, HRAS, BRAF
37agar448.1ELN, BRAF, IGFBP7, MAP2K1, HRAS, RAF1
38gtp44 289.1KRAS, NF1, BRAF, RAF1, HRAS
39cysteine448.1MAP2K1, PTPN11, ELN, NF1, RAF1, HRAS
40arginine448.0ELN, MAP2K1, HRAS, NF1, BRAF, PTPN11
41wortmannin447.9PTPN11, HRAS, MAP2K2, MAP2K1, RAF1, KRAS
42phosphoinositide447.9RAF1, MAP2K2, MAP2K1, BRAF, PTPN11, HRAS
43alanine447.9RAF1, NF1, BRAF, PTPN11, ELN, MAP2K1
44oligonucleotide447.7RAF1, HRAS, KRAS, PTPN11, NF1, BRAF
45vegf447.6HRAS, PTPN11, MAP2K1, ELN, IGFBP7, KRAS
46retinoic acid44 248.2BRAF, ELN, KRAS, NF1, IGFBP7, MAP2K1
47rapamycin447.1KRAS, PTPN11, ELN, RAF1, MAP2K1, BRAF
48phosphatidylinositol447.1BRAF, NF1, MAP2K2, MAP2K1, HRAS, RAF1
49tyrosine447.0RAF1, BRAF, KRAS, NF1, PTPN11, MAP2K2
50serine446.5MAP2K2, BRAF, ELN, PTPN11, KRAS, NF1

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 32)
idNameGO IDScoreTop Affiliating Genes
1regulation of early endosome to late endosome transportGO:200064110.1MAP2K1, MAP2K2
2regulation of Golgi inheritanceGO:09017010.1MAP2K1, MAP2K2
3regulation of stress-activated MAPK cascadeGO:03287210.1MAP2K1, MAP2K2
4positive regulation of Rac protein signal transductionGO:0350229.9KRAS, HRAS
5positive regulation of protein serine/threonine kinase activityGO:0719029.9MAP2K2, MAP2K1
6striated muscle cell differentiationGO:0511469.9KRAS, HRAS
7cellular senescenceGO:0903989.8MAP2K1, HRAS
8activation of MAPK activityGO:0001879.7PTPN11, MAP2K1, MAP2K2
9organ morphogenesisGO:0098879.5BRAF, HRAS, ELN
10leukocyte migrationGO:0509009.4KRAS, PTPN11, HRAS
11RNA modificationGO:0094519.3IGFBP7, NF1
12cell proliferationGO:0082839.3MAP2K1, RAF1, HRAS, ELN
13negative regulation of cell proliferationGO:0082859.2IGFBP7, MAP2K1, RAF1, HRAS
14regulation of synaptic transmission, GABAergicGO:0322289.1KRAS, HRAS, NF1
15regulation of long-term neuronal synaptic plasticityGO:0481699.1HRAS, NF1, KRAS
16visual learningGO:0085429.1NF1, KRAS, HRAS
17positive regulation of Ras GTPase activityGO:0323209.0MAP2K1, NF1
18actin cytoskeleton organizationGO:0300368.9HRAS, KRAS, NF1
19heart developmentGO:0075078.9PTPN11, RAF1, NF1
20synaptic transmissionGO:0072688.7RAF1, DTNA, BRAF, HRAS
21blood coagulationGO:0075968.6RAF1, PTPN11, KRAS, HRAS
22insulin receptor signaling pathwayGO:0082868.4MAP2K2, KRAS, RAF1, MAP2K1, HRAS, PTPN11
23Fc-epsilon receptor signaling pathwayGO:0380958.4KRAS, RAF1, HRAS, MAP2K1, MAP2K2, PTPN11
24epidermal growth factor receptor signaling pathwayGO:0071738.4MAP2K2, MAP2K1, HRAS, RAF1, KRAS, PTPN11
25axon guidanceGO:0074118.4MAP2K1, PTPN11, MAP2K2, KRAS, RAF1, HRAS
26innate immune responseGO:0450878.4PTPN11, KRAS, MAP2K1, MAP2K2, HRAS, RAF1
27activation of MAPKK activityGO:0001868.3HRAS, BRAF, MAP2K2, MAP2K1, RAF1, KRAS
28small GTPase mediated signal transductionGO:0072648.2MAP2K2, MAP2K1, BRAF, KRAS, RAF1, HRAS
29MAPK cascadeGO:0001658.1NF1, RAF1, HRAS, MAP2K1, KRAS, MAP2K2
30Ras protein signal transductionGO:0072658.0HRAS, KRAS, MAP2K2, NF1, MAP2K1, RAF1
31fibroblast growth factor receptor signaling pathwayGO:0085437.8MAP2K2, BRAF, PTPN11, HRAS, RAF1, KRAS
32neurotrophin TRK receptor signaling pathwayGO:0480117.8KRAS, MAP2K1, PTPN11, HRAS, MAP2K2, RAF1

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

idNameGO IDScoreTop Affiliating Genes
1protein serine/threonine kinase activator activityGO:0435399.9MAP2K2, MAP2K1
2protein serine/threonine/tyrosine kinase activityGO:0047129.8MAP2K1, MAP2K2
3Ras GTPase bindingGO:0170169.5MAP2K1, RAF1
4MAP kinase kinase activityGO:0047089.5MAP2K1, MAP2K2
5protein serine/threonine kinase activityGO:0046748.7RAF1, MAP2K1, MAP2K2, BRAF
6protein bindingGO:0055155.4ELN, DTNA, ZIC3, BRAF, NF1, IGFBP7

Products for genes affiliated with Pulmonic Stenosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pulmonic Stenosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet