SIAE, sialic acid acetylesterase, 54414

N. diseases: 30; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0269102
Disease: Endometrioma
Endometrioma
0.010 Biomarker disease BEFREE In this paper we studied whether ovarian cortex adjacent to excised small (diameter ≤ 4 cm) endometriotic cyst (here referred as Cortex Surrounding Endometriotic Cyst, CSEC) showed signs of tissue damages by evaluating the expression of proteins involved in DNA repair and apoptosis. 31416694 2019
CUI: C0917801
Disease: Sleeplessness
Sleeplessness
0.010 GeneticVariation phenotype BEFREE Symptoms of depression confirmed with depression inventory≥ 10 occurred as follows: patients with rheumatoid arthritis - 75.83%, patients with osteoarthritis - 50%, control group - 23.53% (p<0.0001), with the prevalence of insomnia (AIS≥6) at: 71%, 32% and 33%, respectively (p<0.001). 30286609 2019
CUI: C0011847
Disease: Diabetes
Diabetes
0.010 Biomarker disease BEFREE Technology-facilitated care was significantly associated with depression remission (technology-facilitated care vs usual care: OR=2.98, P=.04); increased satisfaction with care for emotional problems among depressed patients (LSE: usual care=3.20, technology-facilitated care=3.70; P=.05); reduced total cholesterol level (LSE: usual care=176.40, technology-facilitated care=160.46; P=.01); improved satisfaction with diabetes care (LSE: usual care=4.01, technology-facilitated care=4.20; P=.05); and increased odds of taking an glycated hemoglobin test (technology-facilitated care vs usual care: OR=3.40, P<.001). 29685872 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.010 Biomarker group BEFREE Technology-facilitated care was significantly associated with depression remission (technology-facilitated care vs usual care: OR=2.98, P=.04); increased satisfaction with care for emotional problems among depressed patients (LSE: usual care=3.20, technology-facilitated care=3.70; P=.05); reduced total cholesterol level (LSE: usual care=176.40, technology-facilitated care=160.46; P=.01); improved satisfaction with diabetes care (LSE: usual care=4.01, technology-facilitated care=4.20; P=.05); and increased odds of taking an glycated hemoglobin test (technology-facilitated care vs usual care: OR=3.40, P<.001). 29685872 2018
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.010 Biomarker group BEFREE Average (SD) age was 15.4 (1.8) years for CSEC/CST patients and 14.8 (1.6) years for ASA patients; 100% of the CSEC/CST and 95% of the ASA patients were female. 26599463 2018
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity
0.010 AlteredExpression disease BEFREE LncRNA of POLDIP2, GAS5, NEFL and UHRF1, circRNA of ZNF280C_hsa_circ_001211 and SIAE_hsa_circ_002083, tar-get gene of QKI showed meaningful differential expression in ROP. 29862174 2018
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression
0.010 Biomarker disease BEFREE Compared with usual care, both the supported care and technology-facilitated care groups were associated with significant reduction in depressive symptoms measured by scores on the 9-item Patient Health Questionnaire (least squares estimate, LSE: usual care=6.35, supported care=5.05, technology-facilitated care=5.16; P value: supported care vs usual care=.02, technology-facilitated care vs usual care=.02); decreased prevalence of major depression (odds ratio, OR: supported care vs usual care=0.45, technology-facilitated care vs usual care=0.33; P value: supported care vs usual care=.02, technology-facilitated care vs usual care=.007); and reduced functional disability as measured by Sheehan Disability Scale scores (LSE: usual care=3.21, supported care=2.61, technology-facilitated care=2.59; P value: supported care vs usual care=.04, technology-facilitated care vs usual care=.03). 29685872 2018
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
0.010 Biomarker disease BEFREE Compared with usual care, both the supported care and technology-facilitated care groups were associated with significant reduction in depressive symptoms measured by scores on the 9-item Patient Health Questionnaire (least squares estimate, LSE: usual care=6.35, supported care=5.05, technology-facilitated care=5.16; P value: supported care vs usual care=.02, technology-facilitated care vs usual care=.02); decreased prevalence of major depression (odds ratio, OR: supported care vs usual care=0.45, technology-facilitated care vs usual care=0.33; P value: supported care vs usual care=.02, technology-facilitated care vs usual care=.007); and reduced functional disability as measured by Sheehan Disability Scale scores (LSE: usual care=3.21, supported care=2.61, technology-facilitated care=2.59; P value: supported care vs usual care=.04, technology-facilitated care vs usual care=.03). 29685872 2018
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances
0.010 Biomarker phenotype BEFREE All patients had consistent sleep disturbances (AIS ≥6), with a large number of patients having intense-maximum sleep disturbances. 27957622 2017
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom
0.010 Biomarker phenotype BEFREE Low (LSE, n=40) and high (HSE, n=45) self-esteem participants were assessed in their interpersonal problems and psychiatric symptoms using self-reported questionnaires, and were compared on their decision making and emotional response during the UG. 28285253 2017
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders
0.010 Biomarker group BEFREE All patients had consistent sleep disturbances (AIS ≥6), with a large number of patients having intense-maximum sleep disturbances. 27957622 2017
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms
0.010 Biomarker phenotype BEFREE LSE was associated with depression and anxiety symptoms. 28285253 2017
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
0.010 Biomarker phenotype BEFREE All patients had consistent sleep disturbances (AIS ≥6), with a large number of patients having intense-maximum sleep disturbances. 27957622 2017
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
0.010 GeneticVariation disease BEFREE Considering the distinct pathogenesis of the two main subtypes of JIA, autoinflammatory systemic (sJIA) and autoimmune oligo/polyarticular (aJIA), and a predisposition to autoimmunity displayed by patients and families with primary antibody deficiencies (PADs), the aim of our study was to analyze whether <i>SIAE</i> rare variants are associated with both the phenotype of JIA and the autoimmunity risk in families with PADs. 28900629 2017
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.010 GeneticVariation disease BEFREE No significant differences in the seven SNPs of SIAE were observed between patients with RA and controls in this cohort (P > 0.05). 26535733 2015
CUI: C4046049
Disease: Anti-PIT-1 Antibody Syndrome
Anti-PIT-1 Antibody Syndrome
0.010 Biomarker disease BEFREE Considering the physiological function of SIAE and the clinical features of anti-PIT-1 antibody syndrome, present data imply a novel aspect of the pathogenesis in this disease. 24748456 2014
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
0.010 GeneticVariation disease BEFREE Sequencing of the SIAE gene and functional assays of newly identified variants revealed six patients with functional non-synonymous SIAE mutations (Fisher's P=9 × 10(-4) vs controls) We demonstrate independent effects on risk of PBC for CLEC16A, SOCS1 and SPIB variants, while identifying functionally defective SIAE variants as potential factors in risk for PBC. 22257840 2012
Childhood Acute Lymphoblastic Leukemia
0.010 AlteredExpression disease BEFREE These studies demonstrate that both SIAE and SOAT activities seem to be responsible for the enhanced level of Neu5,9Ac(2) in lymphoblasts, which is a hallmark in ALL. 21803834 2012
Addison's disease due to autoimmunity
0.010 GeneticVariation disease BEFREE We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. 23011869 2012
Autoimmune Primary Adrenal Insufficiency
0.010 GeneticVariation disease BEFREE We demonstrated the presence of 89*V homozygotes and the 312*M rare allele in the AAD cohort, but overall, our analysis does not support a role for rare variants in SIAE in the pathogenesis of AAD. 23011869 2012
CUI: C0018213
Disease: Graves Disease
Graves Disease
0.010 GeneticVariation disease BEFREE Functionally defective germline variant of sialic acid acetylesterase (Met89Val) is not associated with type 1 diabetes mellitus and Graves' disease in a Polish population. 21615338 2011