Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 255743
Gene Symbol: NPNT
NPNT
0.050 Biomarker disease BEFREE We, therefore, designed this propensity score (PS) case-control study with the aim of evaluating how POEM compares to the long-standing laparoscopic Heller myotomy + Dor fundoplication (LHD) and verifying if it may really replace the latter as the first-line treatment for achalasia. 31848870 2020
Entrez Id: 255743
Gene Symbol: NPNT
NPNT
0.050 Biomarker disease BEFREE Our study demonstrated that POEM is effective and safe for treating achalasia during the long-term followed up over 2 years. 30606216 2019
Entrez Id: 255743
Gene Symbol: NPNT
NPNT
0.050 Biomarker disease BEFREE Types I and II achalasia respond well to POEM, LHM, and PD, while most studies have shown that type III achalasia responds better to POEM than to LHM and PD. 30881999 2019
Entrez Id: 255743
Gene Symbol: NPNT
NPNT
0.050 Biomarker disease BEFREE POEM has been adopted worldwide as a treatment for achalasia. 28660419 2018
Entrez Id: 255743
Gene Symbol: NPNT
NPNT
0.050 Biomarker disease BEFREE <i>Background.</i> Here we aimed to evaluate and compare the efficacy and safety between partial full-thickness myotomy and circular muscle myotomy during POEM procedure in achalasia patients. 28316620 2017
Entrez Id: 2525
Gene Symbol: FUT3
FUT3
0.040 Biomarker disease BEFREE Yet, some patients exhibit clinical features of achalasia despite normal IRP and have LES dysfunction demonstrable by other means. 30957312 2019
Entrez Id: 2525
Gene Symbol: FUT3
FUT3
0.040 Biomarker disease BEFREE Increased lower esophageal sphincter integrated relaxation pressure (LES-IRP) is a cardinal feature of achalasia. 30153516 2019
Entrez Id: 2525
Gene Symbol: FUT3
FUT3
0.040 Biomarker disease BEFREE The resting LES pressure was 8.9±5.94 mmHg with GER symptoms, 16.4±12.79 mmHg without GER symptoms, and 26.8±14.03 mmHg with achalasia. 29915812 2018
Entrez Id: 2525
Gene Symbol: FUT3
FUT3
0.040 Biomarker disease BEFREE Gastro-esophageal reflux disease (GERD) may occur post-achalasia intervention due to disruption of the LES and therefore requires diligent follow-up, especially in children treated with POEM. 29439587 2018
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
0.030 GeneticVariation disease BEFREE We report a nine year old patient with alacrima, optic atrophy and achalasia with mutation in the AAAS gene. 19172511 2009
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
0.030 GeneticVariation disease BEFREE The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. 18628786 2008
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.030 GeneticVariation disease BEFREE The majority of authors attribute a limited contribution unless achalasia is related to a multisystem disorder, like the triple-A or Allgrove's syndrome, an autosomal recessive disease characterized by the triad of adrenocorticotropic hormone (ACTH) resistant adrenal insufficiency, achalasia and alacrima. 16197535 2005
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.030 Biomarker disease BEFREE Evidence indicates that patients with familial achalasia associated with Allgrove or triple-A syndrome (i.e. alacrima, achalasia and adrenocorticotropin-resistant adrenal insufficiency with neurological impairment) have mutations of the alacrima achalasia adrenal insufficiency syndrome (AAAS) gene. 15843079 2005
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
0.030 GeneticVariation disease BEFREE The present study was aimed at identifying possible AAAS gene mutations in patients with established idiopathic non-familial achalasia. 15843079 2005
Entrez Id: 5443
Gene Symbol: POMC
POMC
0.030 Biomarker disease BEFREE Familial adrenocorticotropin unresponsiveness associated with alacrima and achalasia: biochemical and molecular studies in two siblings with clinical heterogeneity. 7758515 1995
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.020 GeneticVariation disease BEFREE The frequency of the HLA-DQB1 insertion differs among high-resolution manometry achalasia subtypes. 30788115 2019
Entrez Id: 3815
Gene Symbol: KIT
KIT
0.020 GeneticVariation disease BEFREE A familial germline mutation in KIT associated with achalasia, mastocytosis and gastrointestinal stromal tumors shows response to kinase inhibitors. 31109590 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 AlteredExpression disease BEFREE The expression of tumor necrosis factor (TNF)-α in the esophagogastric junction (EGJ) was significantly higher in EGJOO (14.6, 14.0-15.8, n = 10) than in normal esophageal motility (13.3, 12.8-14.1, n = 25); however, there was no difference in the expression of TNF-α between achalasia (13.4, 13.0-14.1, n = 10) and normal esophageal motility (13.3, 12.8-14.1, n = 25). 29698944 2018
Entrez Id: 7472
Gene Symbol: WNT2
WNT2
0.020 GeneticVariation disease BEFREE The 40 patients with 4s-IRP of 25 - 34 mmHg were further divided into 2 subgroups; the 28 patients with type II achalasia responded better to POEM than the 12 with type I disease (p < 0.05). 29113005 2018
Entrez Id: 3123
Gene Symbol: HLA-DRB1
HLA-DRB1
0.020 Biomarker disease BEFREE Significant increases in the frequencies of alleles DRB1*14:54 and DQB1*05:03 and the extended haplotypes DRB1*14:54-DQB1*05:03 and DRB1*11:01-DQB1*03:01, even after Bonferroni correction (pC<0.05), were found in the achalasia group compared to those in the controls. 30092016 2018
Entrez Id: 129831
Gene Symbol: RBM45
RBM45
0.020 Biomarker disease BEFREE Significant increases in the frequencies of alleles DRB1*14:54 and DQB1*05:03 and the extended haplotypes DRB1*14:54-DQB1*05:03 and DRB1*11:01-DQB1*03:01, even after Bonferroni correction (pC<0.05), were found in the achalasia group compared to those in the controls. 30092016 2018
Entrez Id: 7472
Gene Symbol: WNT2
WNT2
0.020 GeneticVariation disease BEFREE Optimal diagnostic thresholds identified in the development set (IRP-RDC ≥12 mmHg achalasia, IRP-RDC ≥ 8mmHg "all cause" EGJ dysfunction), were confirmed in the validation set (both, sensitivity ~85%, specificity >95%). 27420913 2017
Entrez Id: 4842
Gene Symbol: NOS1
NOS1
0.020 Biomarker disease BEFREE The finding recapitulates the previously reported phenotype of nitric oxide synthase 1-deficient mice, which have achalasia. 25479138 2015
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.020 GeneticVariation disease BEFREE The rs1799724 SNP located between the lymphotoxin-α (LTA) and tumour necrosis factor-α (TNFα) genes was significantly associated with achalasia and withstood correction for testing multiple SNPs (p=1.17E-4, OR=1.41 (1.18 to 1.67)). 24259423 2014
Entrez Id: 3119
Gene Symbol: HLA-DQB1
HLA-DQB1
0.020 Biomarker disease BEFREE In addition, two amino acid substitutions in the extracellular domain of HLA-DQα1 at position 41 (lysine encoded by HLA-DQA1*01:03; P=5.60×10(-10)) and of HLA-DQβ1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P=1.20×10(-9)) independently confer achalasia risk. 24997987 2014