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MCID: PYL006
MIFTS: 48

Pyloric Stenosis

Categories: Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Pyloric Stenosis

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MalaCards integrated aliases for Pyloric Stenosis:

Name: Pyloric Stenosis 12 29 54 6 44 15 17 71

Classifications:

MalaCards categories:
Anatomical: Gastrointestinal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:12639
MeSH 44 D011707
NCIt 50 C34966
SNOMED-CT 67 367403001
ICD10 32 K31.1
UMLS 71 C0034194
Sources

Summaries for Pyloric Stenosis

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MalaCards based summary : Pyloric Stenosis is related to pyloric stenosis, infantile hypertrophic, 1 and duodenal ulcer. An important gene associated with Pyloric Stenosis is MAP1B (Microtubule Associated Protein 1B), and among its related pathways/superpathways are Neuroscience and Salivary secretion. The drugs Midazolam and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include small intestine, pancreas and breast, and related phenotypes are mortality/aging and cardiovascular system

Wikipedia : 74 Pyloric stenosis is a narrowing of the opening from the stomach to the first part of the small intestine... more...

Sources

Related Diseases for Pyloric Stenosis

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

(show top 50) (show all 338)
# Related Disease Score Top Affiliating Genes
1 pyloric stenosis, infantile hypertrophic, 1 33.4 NOS1 LOC111258526
2 duodenal ulcer 31.0 SST MLN GAST
3 intestinal obstruction 30.9 RET MLN BLVRB
4 volvulus of midgut 30.8 SST MLN FOXF1
5 hypertrophic pyloric stenosis 30.8 TRPC6 TRPC5 TRPC1 SST RET NTRK1
6 esophageal atresia 30.7 TENT5A FOXF1 CHD7
7 achalasia 30.7 RET NOS1 GAST BLVRB
8 gastritis, familial giant hypertrophic 30.3 GAST BARX1
9 hypoganglionosis 30.3 RET BLVRB
10 intestinal pseudo-obstruction 30.3 SST RET MLN
11 hernia, hiatus 30.2 MLN GAST FOXF1 BARX1
12 gastroparesis 30.1 SST NOS1 MLN GAST
13 dumping syndrome 30.0 SST MLN GAST
14 constipation 29.9 SST RET NOS1 MLN GAST
15 hirschsprung disease 1 29.4 RET NTRK1 NOS1 KCNN3 BLVRB
16 renal hypodysplasia/aplasia 1 29.4 RET FOXF1 CHD7
17 hypothyroidism 29.2 SST RET NKX2-5 CHD7
18 acquired gastric outlet stenosis 11.5
19 pyloric stenosis, infantile hypertrophic, 5 11.5
20 pyloric stenosis, infantile hypertrophic, 2 11.4
21 pyloric stenosis, infantile hypertrophic, 4 11.4
22 pyloric stenosis, infantile hypertrophic, 3 11.4
23 congenital generalized lipodystrophy 11.2
24 epidermolysis bullosa junctionalis with pyloric atresia 11.1
25 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.1
26 duodenal atresia 11.1
27 myhre syndrome 11.1
28 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.6
29 gastritis 10.5
30 peptic ulcer disease 10.5
31 pylorospasm 10.5
32 gastric ulcer 10.5
33 muscle hypertrophy 10.4
34 gastric cancer 10.4
35 gastroesophageal reflux 10.4
36 gastroenteritis 10.4
37 eosinophilic gastroenteritis 10.4
38 bilirubin metabolic disorder 10.3
39 gastric dilatation 10.3
40 crohn's disease 10.3
41 neurogenic bowel 10.3 MLN GAST
42 postcholecystectomy syndrome 10.3 MLN GAST
43 hypokalemia 10.3
44 functional colonic disease 10.3 SST MLN
45 esophagitis 10.3
46 colonic pseudo-obstruction 10.3 SST MLN
47 t cell and nk cell immunodeficiency 10.3 TRPC6 TRPC1
48 gastrointestinal neuroendocrine benign tumor 10.3 SST GAST
49 non-functioning pancreatic endocrine tumor 10.3 SST GAST
50 rectum neuroendocrine neoplasm 10.3 SST GAST

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



Diseases related to Pyloric Stenosis
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Symptoms & Phenotypes for Pyloric Stenosis

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MGI Mouse Phenotypes related to Pyloric Stenosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.1 BARX1 BNIP1 CHD7 FOXF1 GAST KCNN3
2 cardiovascular system MP:0005385 10.07 CHD7 FOXF1 MBNL1 NKX2-5 NOS1 RET
3 digestive/alimentary MP:0005381 9.97 BARX1 CHD7 FOXF1 GAST NKX2-5 NOS1
4 muscle MP:0005369 9.76 CHD7 FOXF1 MBNL1 NKX2-5 NOS1 NTRK1
5 nervous system MP:0003631 9.73 CHD7 KCNN3 MAP1B MBNL1 NKX2-5 NOS1
6 no phenotypic analysis MP:0003012 9.17 KCNN3 NKX2-5 NOS1 NTRK1 RET SST
Sources

Drugs & Therapeutics for Pyloric Stenosis

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
2 Anesthetics Phase 2, Phase 3
3
Racepinephrine Approved 329-65-7 838
4
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
5
Sevoflurane Approved, Vet_approved 28523-86-6 5206
6
Epinephrine Approved, Vet_approved 51-43-4 5816
7
Bupivacaine Approved, Investigational 38396-39-3, 2180-92-9 2474
8
Rocuronium Approved 119302-91-9, 143558-00-3 441290
9
Propofol Approved, Investigational, Vet_approved 2078-54-8 4943
10
Acetaminophen Approved 103-90-2 1983
11
Alprostadil Approved, Investigational 745-65-3 149351 5280723
12 Epinephryl borate
13 Bromides
14 Analgesics, Non-Narcotic
15 Analgesics
16 Antipyretics
17 Hemostatics
18 Platelet Aggregation Inhibitors
19 Vasodilator Agents

Interventional clinical trials:

(show all 27)
# Name Status NCT ID Phase Drugs
1 Phase IV Study of Double Bare Self-expandable Metallic Stent for Malignant Gastric Outlet Obstruction Unknown status NCT02156505 Phase 4
2 Outcomes of Stapled Trans-Anal Rectal Resection (STARR) vs. Biofeedback in the Treatment of Outlet Obstruction Associated With Rectal Intussusception and Rectocele: A Multi-center Randomized Controlled Trial Completed NCT00556283 Phase 4
3 Laparoscopic Versus Open Pyloromyotomy for Infants With Idiopathic Hypertrophic Pyloric Stenosis Completed NCT00195949 Phase 3
4 Partially Covered Versus Uncovered Pyloro-duodenal Stents for Unresectable Malignant Gastric Outlet Obstruction. A Double Blinded Randomised Controlled Trial. Completed NCT03223831 Phase 3
5 Comparison of Efficacy of Covered Versus Uncovered Self-expandable Metallic Stents for Treatment of Malignant Gastric Outlet Obstruction: a Prospective, Randomized Study Completed NCT01646476 Phase 3
6 EUS - Guided Balloon-occluded Gastrojejunostomy Bypass (EPASS) for Unresectable Malignant Gastric Outlet Obstruction. Recruiting NCT03223480 Phase 2, Phase 3
7 The Effect of Hypertrophic Pyloric Stenosis (HPS) on Sodium Intake in Childhood Unknown status NCT01159509
8 A Retrospective Comparative Study, Post Operative Outcomes of Pyloromyotomy Procedure Under Spinal Anesthesia Compared to General Anesthesia Unknown status NCT03095144
9 Open vs Laparoscopic Pyloromyotomy for Pyloric Stenosis Unknown status NCT00144924
10 The Usefulness of Self-expandable Metal Stents(SEMS) for Malignant Gastric Outlet Obstruction: a Prospective Study Using New Designed Stents Unknown status NCT02440724
11 Post-Operative Impact of Nasogastric Tubes on Rates of Emesis in Infants Diagnosed With Pyloric Stenosis: A Prospective, Randomized Controlled Pilot Trial Completed NCT01139853 Early Phase 1
12 Prospective Randomized Trial Evaluating the Feeding Regimen After Pyloromyotomy. Completed NCT01509417
13 Frequency of Formula Change Prior to the Accurate Diagnosis of Pyloric Stenosis Completed NCT00409734
14 Institutional Audit of the Use of Intravenous Acetaminophen in Infants Undergoing Pyloromyotomy Completed NCT02359305 Acetaminophen;Acetaminophen
15 Changes in Cerebral Oxygenation During Laparoscopic Pyloromyotomy Completed NCT03650842
16 A Newly Designed Conformable Uncovered Versus Covered Self-expandable Metallic Stent for Palliation of Malignant Gastric Outlet Obstruction: a Prospective, Randomized Multicenter Study Completed NCT01839292
17 A Multicenter Randomized Controlled Trial of Malignant Gastric Outlet Obstruction: Tailored Partially Covered Stents (Placed Fluoroscopically) Versus Standard Uncovered Stents (Placed Endoscopically) Completed NCT02299258
18 Treatment of Duodenal or Gastric Outlet Obstruction and Duodenal Strictures Caused by Malignant Neoplasms With the EVOLUTION® Duodenal Stent Completed NCT00991614
19 Evaluation of the Efficacy of Duodenal Prostheses Not Covered Over 6 Years Recruiting NCT03463668
20 Per-oral Pyloromyotomy for Treating Infantile Hypertrophic Pyloric Stenosis Recruiting NCT04148040
21 EUS-guided Balloon-occluded Gastrojejunostomy Bypass (EPASS) Versus Uncovered Duodenal Stent for Unresectable Malignant Gastric Outlet Obstruction. Recruiting NCT03823690
22 Serie de Casos Prospectiva de Gastroenteroanastomosis Guiada Por Ecoendoscopia Para la obstrucción al Vaciado gástrico en Neoplasias Avanzadas Mediante la técnica Del Drenaje Nasobiliar Recruiting NCT04660695
23 EUS-guided Gastroenterostomy Versus Enteral Stenting for Palliation of Malignant Gastric Outlet Obstruction: A Randomized Clinical Trial Recruiting NCT03259763
24 Effect Of Prostaglandin E1 Treatment On Pyloric Wall Thickness in Newborns With Ductal Dependent Critical Congenital Heart Diseases Active, not recruiting NCT04496050 Prostaglandin E1
25 Conventional Direct Laryngoscopy Vs. Video Laryngoscopy With The C-MAC For Pyloromyotomy Enrolling by invitation NCT02775214
26 AspireAssist for Palliative Venting Gastrostomy in Malignant Bowel Obstruction Patients Not yet recruiting NCT04375462
27 Endoscopic Gastroenteric Anastomosis Formed by Magnetic Compression and Stent Placement for Palliation of Malignant Gastric Outlet Obstruction Terminated NCT00487552

Search NIH Clinical Center for Pyloric Stenosis

Cochrane evidence based reviews: pyloric stenosis

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Genetic Tests for Pyloric Stenosis

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Genetic tests related to Pyloric Stenosis:

# Genetic test Affiliating Genes
1 Pyloric Stenosis 29
Sources

Anatomical Context for Pyloric Stenosis

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MalaCards organs/tissues related to Pyloric Stenosis:

40
Small Intestine, Pancreas, Breast, Smooth Muscle, Brain, Colon, Lymph Node
Sources

Publications for Pyloric Stenosis

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Articles related to Pyloric Stenosis:

(show top 50) (show all 3159)
# Title Authors PMID Year
1
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis. 54 61
19851341 2009
2
Nonfatal congenital alveolar dysplasia due to abnormalities of NO synthase isoforms. 54 61
17590189 2007
3
Pyloric stenosis in a newborn baby with polycystic kidneys. 61 54
17262047 2007
4
Low plasma nitrite in infantile hypertrophic pyloric stenosis patients. 61 54
16758311 2006
5
[Pyloric stenosis and neuronal nitric oxide synthase]. 61 54
15361336 2004
6
Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis. 61 54
14757827 2004
7
Pathophysiological significance of neuronal nitric oxide synthase in the gastrointestinal tract. 61 54
12768383 2003
8
Gastrin, somatostatin and infantile hypertrophic pyloric stenosis. 54 61
11529535 2001
9
Nitric oxide synthase is absent in only a subset of cases of pyloric stenosis. 61 54
11283889 2001
10
Distinct expression of splice variants of neuronal nitric oxide synthase in the human gastrointestinal tract. 61 54
10784584 2000
11
Endogenous nitric oxide synthesis: biological functions and pathophysiology. 61 54
10630682 1999
12
Neuronal nitric oxide synthase, nNOS, is not linked to infantile hypertrophic pyloric stenosis in three families. 54 61
9660065 1998
13
Altered messenger RNA expression of the neuronal nitric oxide synthase gene in infantile hypertrophic pyloric stenosis. 61 54
9354728 1997
14
Gastric somatostatin content and binding in children with hypertrophic pyloric stenosis: a long-term follow-up study. 54 61
8786484 1995
15
Nitric oxide in the peripheral nervous system. 54 61
7546628 1995
16
Immunochemical characterization of neural cell adhesion molecule (NCAM), nitric oxide synthase, and neurofilament protein expression in pyloric muscle of patients with pyloric stenosis. 61 54
7541835 1995
17
Serum gastrin level and gastric somatostatin content and binding in long-term pyloromyotomized children. 54 61
7913200 1994
18
Nitric oxide synthase activity in infantile hypertrophic pyloric stenosis. 54 61
1378938 1992
19
Annular pancreas mimicking hypertrophic pyloric stenosis in a female infant. 61
33537107 2021
20
Diagnostic decision-making tool for imaging term neonatal bowel obstruction. 61
33097229 2021
21
Pediatric Surgery Simulation-Based Training for the General Surgery Resident. 61
32561030 2021
22
[Deviation of Peripherally Inserted Central Catheter(PICC)during Total Parenteral Nutrition(TPN)for a Gastric Cancer Patient-A Case of Report]. 61
33597377 2021
23
Macrolides for the prevention and treatment of feeding intolerance in preterm low birth weight infants: a systematic review and meta-analysis. 61
33044576 2021
24
Simultaneous laparoscopic hiatal hernia repair and pyloroplasty for a type 3 hiatal hernia with post-ESD pyloric stenosis for early gastric cancer. 61
33547758 2021
25
Getting it right first time: implementation of laparoscopic pyloromyotomy without a learning curve. 61
33559548 2021
26
Coagulation standards in healthy newborns and infants. 61
33277135 2021
27
[Right upper abdominal pain, vomiting, weight loss and icterus in a 20-year-old male refugee]. 61
33052456 2021
28
Adult hypertrophic pyloric stenosis that improved by spontaneous double channel pylorus formation. 61
33553675 2021
29
Digestive Diseases in Brachycephalic Dogs. 61
33187623 2021
30
The incidence of infantile hypertrophic pyloric stenosis nearly halved from 2005 to 2017: analysis of German administrative data. 61
33469698 2021
31
Protocol: A systematic review and meta-analysis of the role of fetal and infantile environmental exposure in etiopathogenesis of infantile hypertrophic pyloric stenosis. 61
33592043 2021
32
Untwisting the complexity of midgut malrotation and volvulus ultrasound. 61
33398405 2021
33
Integrating genetics with newborn metabolomics in infantile hypertrophic pyloric stenosis. 61
33417075 2021
34
The therapeutic strategy for advanced gastric cancer with pyloric stenosis and liver metastasis; successfully treated by gastro-jejunal bypass and chemotherapy first, followed by curative R0 resection. 61
33409765 2021
35
Laparoscopic pyloromyotomy for congenital hypertrophic pyloric stenosis: Our experience with twenty cases. 61
33595535 2021
36
New insight into clinical heterogeneity and inheritance diversity of FBLN5-related cutis laxa. 61
33509220 2021
37
A rare case of recessive dystrophic epidermolysis bullosa with aplasia cutis and pyloric stenosis. 61
33426253 2021
38
Update on transumbilical laparoscopic-assisted surgery in infants and neonates. 61
33595534 2021
39
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway. 61
33510604 2020
40
[Efficacy of Laparoscopic Gastrojejunal Bypass for Unresectable Gastric Cancer with Pyloric Stenosis]. 61
33468941 2020
41
[Successful Treatment with Nab-Paclitaxel for Stage â…£ Gastric Cancer in an Elderly Patient on Hemodialysis]. 61
33468981 2020
42
Respiratory problems owing to severe metabolic alkalosis in infants presenting with hypertrophic pyloric stenosis. 61
32641249 2020
43
A Delphi Analysis to Reach Consensus on Preoperative Care in Infants with Hypertrophic Pyloric Stenosis. 61
31958865 2020
44
Epidural versus general anesthesia for open pyloromyotomy in infants: A retrospective observational study. 61
33368903 2020
45
Prolonged neuromuscular block after rocuronium administration in laparoscopic pyloromyotomy patients: A retrospective bayesian regression analysis. 61
33382505 2020
46
Long-term follow-up in surgical newborns: A single-institution experience. 61
32201108 2020
47
Leveraging a phenome-wide approach to identify novel exposure-birth defect associations: A proof of concept using maternal smoking and a spectrum of birth defects. 61
33275842 2020
48
Safety of azithromycin in pediatrics: a systematic review and meta-analysis. 61
32681202 2020
49
Pyloric stenosis of Infancy, primary hyperacidity and Occam's razor. 61
33075583 2020
50
Lockdown during the COVID-19 pandemic: impact on infants with pyloric stenosis. 61
33262176 2020
Sources

Variations for Pyloric Stenosis

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ClinVar genetic disease variations for Pyloric Stenosis:

6 (show all 33)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MAP1B NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter) SNV Pathogenic 638688 rs1580027036 5:71494550-71494550 5:72198723-72198723
2 CHD7 NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter) SNV Likely pathogenic 523522 rs367557471 8:61734614-61734614 8:60822055-60822055
3 TENT5A NM_017633.3(TENT5A):c.65C>G (p.Pro22Arg) SNV Likely pathogenic 691346 rs1311215973 6:82461794-82461794 6:81752077-81752077
4 TENT5A NM_017633.3(TENT5A):c.26C>G (p.Ala9Gly) SNV Uncertain significance 691347 rs1581992148 6:82461833-82461833 6:81752116-81752116
5 IGSF3 NM_001007237.3(IGSF3):c.1841G>T (p.Arg614Leu) SNV Uncertain significance 691355 rs190300523 1:117142751-117142751 1:116600129-116600129
6 INSR NM_000208.4(INSR):c.3364G>A (p.Ala1122Thr) SNV Uncertain significance 691357 rs1250061465 19:7122895-7122895 19:7122884-7122884
7 ITGB1 NM_002211.4(ITGB1):c.2252G>A (p.Trp751Ter) SNV Uncertain significance 691359 rs1593853217 10:33197375-33197375 10:32908447-32908447
8 KCNA6 NM_002235.3(KCNA6):c.233A>G (p.Asp78Gly) SNV Uncertain significance 691364 rs1591588696 12:4919440-4919440 12:4810274-4810274
9 PDE4D NM_001104631.2(PDE4D):c.1339T>C (p.Tyr447His) SNV Uncertain significance 691367 rs1580132131 5:58285695-58285695 5:58989868-58989868
10 RPGR NM_000328.3(RPGR):c.780G>T (p.Glu260Asp) SNV Uncertain significance 691374 rs1328506002 X:38164042-38164042 X:38304789-38304789
11 SIPA1 NM_006747.4(SIPA1):c.367A>G (p.Ser123Gly) SNV Uncertain significance 691381 rs1590917647 11:65408759-65408759 11:65641288-65641288
12 STAT5A NM_001288719.1(STAT5A):c.1189G>A (p.Ala397Thr) SNV Uncertain significance 691386 rs1598364148 17:40456569-40456569 17:42304551-42304551
13 TENM2 NM_001080428.3(TENM2):c.3448C>A (p.Leu1150Met) SNV Uncertain significance 691387 rs1581659572 5:167643859-167643859 5:168216854-168216854
14 ATP1A3 NM_152296.5(ATP1A3):c.1978C>A (p.Leu660Ile) SNV Uncertain significance 691412 rs1599713761 19:42480684-42480684 19:41976532-41976532
15 ATP6V0A1 NM_001130020.2(ATP6V0A1):c.1361G>A (p.Arg454Gln) SNV Uncertain significance 691414 rs1204448380 17:40647077-40647077 17:42495059-42495059
16 C2CD4A NM_207322.3(C2CD4A):c.284A>C (p.His95Pro) SNV Uncertain significance 691415 rs1596557030 15:62360096-62360096 15:62067897-62067897
17 CDC27 NM_001256.6(CDC27):c.4A>G (p.Thr2Ala) SNV Uncertain significance 691419 rs62077280 17:45266535-45266535 17:47189169-47189169
18 DROSHA NM_013235.5(DROSHA):c.323G>A (p.Arg108Lys) SNV Uncertain significance 691431 rs1580396270 5:31526717-31526717 5:31526610-31526610
19 DSCAM NM_001389.5(DSCAM):c.4979T>A (p.Ile1660Asn) SNV Uncertain significance 691432 rs1601280227 21:41427708-41427708 21:40055781-40055781
20 MID2 NM_012216.4(MID2):c.1757T>C (p.Ile586Thr) SNV Uncertain significance 691447 rs1602513371 X:107169483-107169483 X:107926253-107926253
21 NAGS NM_153006.3(NAGS):c.1378C>G (p.Leu460Val) SNV Uncertain significance 691450 rs1272126077 17:42085068-42085068 17:44007700-44007700
22 WDR13 NM_001347217.2(WDR13):c.911C>T (p.Thr304Ile) SNV Uncertain significance 691467 rs1602147382 X:48460251-48460251 X:48601863-48601863
23 KCNN3 NM_002249.6(KCNN3):c.200_202AGC[16] (p.Gln79_Gln80dup) Microsatellite Uncertain significance 682032 rs3831942 1:154842199-154842200 1:154869723-154869724
24 PLK2 NM_006622.4(PLK2):c.1049C>T (p.Thr350Ile) SNV Uncertain significance 691369 rs1579964675 5:57752879-57752879 5:58457052-58457052
25 CMIP NM_030629.3(CMIP):c.1196C>G (p.Thr399Ser) SNV Uncertain significance 691425 rs1597258512 16:81726786-81726786 16:81693181-81693181
26 TERT NM_198253.3(TERT):c.1185G>T (p.Glu395Asp) SNV Uncertain significance 691457 rs1579596881 5:1293816-1293816 5:1293701-1293701
27 CACNA1C-AS1 NM_000719.7(CACNA1C):c.5761C>T (p.Pro1921Ser) SNV Uncertain significance 691416 rs1603462691 12:2795412-2795412 12:2686246-2686246
28 GABRG2 NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser) SNV Uncertain significance 691349 rs1581342223 5:161520881-161520881 5:162093875-162093875
29 NOTCH1 NM_017617.5(NOTCH1):c.6032T>C (p.Leu2011Pro) SNV Uncertain significance 691452 rs1589054568 9:139393614-139393614 9:136499162-136499162
30 TCF4 NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) SNV Uncertain significance 468958 rs1556050492 18:53070717-53070717 18:55403486-55403486
31 AMBRA1 NM_001267782.2(AMBRA1):c.431C>T (p.Ala144Val) SNV Uncertain significance 691340 rs1565279367 11:46567274-46567274 11:46545724-46545724
32 DST NM_015548.5(DST):c.4124C>G (p.Ser1375Ter) SNV Uncertain significance 691344 rs1586153937 6:56462740-56462740 6:56597942-56597942
33 TENT5A NM_017633.3(TENT5A):c.64C>G (p.Pro22Ala) SNV Uncertain significance 691345 rs1581992092 6:82461795-82461795 6:81752078-81752078
Sources

Expression for Pyloric Stenosis

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Search GEO for disease gene expression data for Pyloric Stenosis.
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Pathways for Pyloric Stenosis

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
12.16 TRPC6 RET NTRK1 NOS1
2
Salivary secretion 36
Show member pathways
 11.99 TRPC1 SST NOS1 GAST
3
Netrin-1 signaling 65
Show member pathways
 11.21 TRPC6 TRPC5 TRPC1
4
GnRH secretion 36
10.94 TRPC5 TRPC1 KCNN3
5
TRP channels 65
10.2 TRPC6 TRPC5 TRPC1
Sources

GO Terms for Pyloric Stenosis

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

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.43 TRPC5 SST RET NTRK1 MAP1B KCNN3
2 cation channel complex GO:0034703 8.8 TRPC6 TRPC5 TRPC1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.85 TRPC5 RET NTRK1 MBNL1 MAP1B
2 response to drug GO:0042493 9.8 SST RET NTRK1 MAP1B
3 cellular response to growth factor stimulus GO:0071363 9.58 NTRK1 NOS1 MAP1B
4 regulation of cardiac conduction GO:1903779 9.54 TRPC1 NOS1 NKX2-5
5 regulation of cytosolic calcium ion concentration GO:0051480 9.5 TRPC6 TRPC5 TRPC1
6 adult heart development GO:0007512 9.48 NKX2-5 CHD7
7 positive regulation of neuron differentiation GO:0045666 9.46 TRPC6 TRPC5 NKX2-5 MAP1B
8 negative regulation of dendrite morphogenesis GO:0050774 9.43 TRPC6 TRPC5
9 olfactory nerve development GO:0021553 9.26 NTRK1 CHD7
10 innervation GO:0060384 9.13 RET NTRK1 CHD7
11 manganese ion transport GO:0006828 8.8 TRPC6 TRPC5 TRPC1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.54 SST MLN GAST
2 calcium channel activity GO:0005262 9.5 TRPC6 TRPC5 TRPC1
3 ATPase binding GO:0051117 9.33 TRPC6 TRPC5 TRPC1
4 actinin binding GO:0042805 9.26 TRPC6 TRPC5
5 inositol 1,4,5 trisphosphate binding GO:0070679 9.13 TRPC6 TRPC5 TRPC1
6 store-operated calcium channel activity GO:0015279 8.8 TRPC6 TRPC5 TRPC1
Sources

Sources for Pyloric Stenosis

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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