ECI1, enoyl-CoA delta isomerase 1, 1632

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005890
Disease: Body Height
Body Height
0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.020 GeneticVariation disease BEFREE Preoperatively the median DCI (299 ES vs. 1523.5 MSA vs. 1132 NF, p = 0.001), HH size (0.5 cm ES vs. 1 cm MSA vs. 2 cm NF, p = 0.001) and presence of GERD-related symptoms differed significantly between the groups. 31844179 2019
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.020 Biomarker disease BEFREE In the preoperative findings on MII-pH, the RE+ group demonstrated significantly longer acid reflux time (4.7 vs. 1.3%, p = 0.005), while in the HRM findings, the RE- group demonstrated a significantly longer abdominal esophagus (0 vs. 0.4 cm, p = 0.049) and maintained esophageal body motor function (DCI: 1054 vs. 1407 mmHg s cm, p = 0.021, Intact peristalsis ratio: 90 vs. 100%, p = 0.037). 30225739 2018
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia
0.010 Biomarker disease BEFREE Increased MRS DCI was seen in 53% type 2 achalasia, 92% type 3 achalasia, 10% EGJOO, 22% jackhammer, and 18% DES. 30805798 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis revealed that death or functional dependence (defined as an mRS score of 4 to 6) at hospital discharge was independently associated with sepsis (OR 3.4, 95% CI 1.16-9.96, p = 0.026) even after controlling for World Federation of Neurological Surgeons (WFNS) Scale (OR 4.66, 95% CI 1.69-12.88, p = 0.003), hydrocephalus (OR 4.55, 95% CI 1.61-12.85, p = 0.004) and DCI (OR 3.86, 95% CI 1.39-10.74, p = 0.01). 31432283 2019
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis revealed that death or functional dependence (defined as an mRS score of 4 to 6) at hospital discharge was independently associated with sepsis (OR 3.4, 95% CI 1.16-9.96, p = 0.026) even after controlling for World Federation of Neurological Surgeons (WFNS) Scale (OR 4.66, 95% CI 1.69-12.88, p = 0.003), hydrocephalus (OR 4.55, 95% CI 1.61-12.85, p = 0.004) and DCI (OR 3.86, 95% CI 1.39-10.74, p = 0.01). 31432283 2019
CUI: C0243026
Disease: Sepsis
Sepsis
0.010 GeneticVariation disease BEFREE Multivariable logistic regression analysis revealed that death or functional dependence (defined as an mRS score of 4 to 6) at hospital discharge was independently associated with sepsis (OR 3.4, 95% CI 1.16-9.96, p = 0.026) even after controlling for World Federation of Neurological Surgeons (WFNS) Scale (OR 4.66, 95% CI 1.69-12.88, p = 0.003), hydrocephalus (OR 4.55, 95% CI 1.61-12.85, p = 0.004) and DCI (OR 3.86, 95% CI 1.39-10.74, p = 0.01). 31432283 2019
CUI: C1321756
Disease: Achalasia
Achalasia
0.010 Biomarker disease BEFREE Increased MRS DCI was seen in 53% type 2 achalasia, 92% type 3 achalasia, 10% EGJOO, 22% jackhammer, and 18% DES. 30805798 2019
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia
0.010 GeneticVariation disease BEFREE Preoperatively the median DCI (299 ES vs. 1523.5 MSA vs. 1132 NF, p = 0.001), HH size (0.5 cm ES vs. 1 cm MSA vs. 2 cm NF, p = 0.001) and presence of GERD-related symptoms differed significantly between the groups. 31844179 2019
CUI: C0014869
Disease: Peptic Esophagitis
Peptic Esophagitis
0.010 Biomarker disease BEFREE Moreover, for both groups, the total length of the lower esophageal sphincter (LES) (RE+ group: 2.7 vs. 3.2 cm, p = 0.001, RE- group: 3.0 vs. 3.4 cm, p = 0.003) and the total length of the abdominal esophagus (RE+ group: 0 vs. 1.6 cm, p < 0.001, RE- group: 0 vs. 1.8 cm, p = 0.001) were significantly extended following surgery; however, no change was observed in DCI before and after surgery. 30225739 2018
CUI: C0018834
Disease: Heartburn
Heartburn
0.010 Biomarker phenotype BEFREE In the preoperative findings on MII-pH, the RE+ group demonstrated significantly longer acid reflux time (4.7 vs. 1.3%, p = 0.005), while in the HRM findings, the RE- group demonstrated a significantly longer abdominal esophagus (0 vs. 0.4 cm, p = 0.049) and maintained esophageal body motor function (DCI: 1054 vs. 1407 mmHg s cm, p = 0.021, Intact peristalsis ratio: 90 vs. 100%, p = 0.037). 30225739 2018
Gastro-esophageal reflux disease with esophagitis
0.010 Biomarker disease BEFREE Moreover, for both groups, the total length of the lower esophageal sphincter (LES) (RE+ group: 2.7 vs. 3.2 cm, p = 0.001, RE- group: 3.0 vs. 3.4 cm, p = 0.003) and the total length of the abdominal esophagus (RE+ group: 0 vs. 1.6 cm, p < 0.001, RE- group: 0 vs. 1.8 cm, p = 0.001) were significantly extended following surgery; however, no change was observed in DCI before and after surgery. 30225739 2018
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
0.010 Biomarker group BEFREE The symptom chest pain was not associated with any of the manometric findings, whereas dysphagia was associated with the DCI of the hypercontractile swallows and with intrabolus pressure. 27753176 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 Biomarker disease BEFREE Based on the published results, both MI and DCI represent potential valid therapeutic approaches for the treatment of insulin resistance and its associated metabolic and reproductive disorders, such as those occurring in women affected by PCOS. 28642705 2017
CUI: C0036572
Disease: Seizures
Seizures
0.010 Biomarker phenotype BEFREE The patients were divided into cerebral vasospasm group (CVS group) (n = 37) and no convulsion group (non-CVS group) (n = 46); delayed cerebral ischemia group (DCI group) (n = 31) and non-delayed cerebral ischemia group (non-DCI group) (n = 52). 29077161 2017
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.010 Biomarker disease BEFREE No significant difference between blood type and the reviewed variables for SAH outcome were identified: World Federation of Neurosurgical Societies admission status (odds ratio, 1.12; 95% confidence interval [CI], 0.7-1.6; P = 0.56); SAH-associated intracerebral hemorrhage (odds ratio, 0.81; 95% CI, 0.5-1.3; P = 0.36); cerebral vasospasm (odds ratio, 1.08; 95% CI, 0.7-1.6; P = 0.71); DCI (odds ratio, 1.23; 95% CI, 0.8-1.8; P = 0.30); Fisher grade (odds ratio, 1.13; 95% CI, 0.7-1.6; P = 0.19). 27777156 2017
CUI: C4048158
Disease: Convulsions
Convulsions
0.010 Biomarker phenotype BEFREE The patients were divided into cerebral vasospasm group (CVS group) (n = 37) and no convulsion group (non-CVS group) (n = 46); delayed cerebral ischemia group (DCI group) (n = 31) and non-delayed cerebral ischemia group (non-DCI group) (n = 52). 29077161 2017
Noninfiltrating Intraductal Carcinoma
0.010 GeneticVariation disease BEFREE To determine whether synchronously diagnosed ipsilateral DCI and IDCs have modal populations with distinct repertoires of gene copy number aberrations and mutations in common oncogenes, matched frozen samples of DCIS and IDC were retrieved from 13 patients and subjected to microarray-based comparative genomic hybridization (aCGH) and Sequenom MassARRAY (Oncocarta v 1.0 panel). 22252965 2012
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.010 Biomarker disease BEFREE Although the genomic profiles of matched DCI and IDCs were similar, in three of 13 matched pairs amplification of distinct loci (ie 1q41, 2q24.2, 6q22.31, 7q11.21, 8q21.2 and 9p13.3) was either restricted to, or more prevalent in, the modal population of cancer cells of one of the components. 22252965 2012