WNT2, Wnt family member 2, 7472

N. diseases: 96; N. variants: 9
Disease: Esophageal Achalasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		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
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		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