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
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.400 GeneticVariation disease UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
0.400 SusceptibilityMutation disease CLINVAR
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 GeneticVariation group BEFREE Our results show that <i>SIAE</i> rare variants are not causative of autoimmunity as single defects. 28900629 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 Biomarker group BEFREE Sialic acid acetylesterase (SIAE) removes acetyl moieties from the carbon 9 and 4 hydroxyl groups of sialic acid and recently a debate has been opened on its association to autoimmunity. 28922741 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 GeneticVariation group BEFREE The function of rare genotypes encoding defective variants of sialic acid acetylesterase (SIAE) in some autoimmune diseases, including rheumatoid arthritis (RA), is ambiguous. 26535733 2015
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 Biomarker group BEFREE Sialic acid acetylesterase (SIAE) plays a crucial role in regulating the threshold of autoantibody production of B-cells and the defective variants of SIAE are associated with an increased risk of various autoimmune diseases such as type 1 diabetes (T1DM). 24748456 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 GeneticVariation group BEFREE We fine mapped two primary biliary cirrhosis (PBC) risk loci, CLEC16A (C-type lectin domain family 16 member A)-suppressor of cytokine signaling 1 (SOCS1) and Spi-B protein (SPIB) and sequenced a locus, sialic acid acetylesterase (SIAE), proposed to harbor autoimmunity-associated mutations. 22257840 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 GeneticVariation group BEFREE We conclude that further studies are needed before the proposed strong effect of defective SIAE variants on susceptibility to autoimmunity can be universally accepted. 21615338 2011
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 GeneticVariation group BEFREE Functionally defective SIAE rare and polymorphic variants represent a strong genetic link to susceptibility in relatively common human autoimmune disorders. 20555325 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.370 Biomarker group CTD_human
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.100 GeneticVariation phenotype GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.030 Biomarker disease BEFREE In all subjects with AIS≥6, the depression inventory was statistically significantly (p<0.005) higher than in the subjects with AIS<6 (respectively: 17.02 vs 12.13; 15.6 vs 8.05; 5.45 vs 1.81). 30286609 2019
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.030 Biomarker disease BEFREE In all subjects with AIS≥6, the depression inventory was statistically significantly (p<0.005) higher than in the subjects with AIS<6 (respectively: 17.02 vs 12.13; 15.6 vs 8.05; 5.45 vs 1.81). 30286609 2019
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.030 Biomarker phenotype BEFREE In all subjects with AIS≥6, the depression inventory was statistically significantly (p<0.005) higher than in the subjects with AIS<6 (respectively: 17.02 vs 12.13; 15.6 vs 8.05; 5.45 vs 1.81). 30286609 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression
0.030 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: C0011581
Disease: Depressive disorder
Depressive disorder
0.030 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: C0344315
Disease: Depressed mood
Depressed mood
0.030 Biomarker phenotype 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: C0011570
Disease: Mental Depression
Mental Depression
0.030 Biomarker disease BEFREE LSE was associated with depression and anxiety symptoms. 28285253 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.030 Biomarker disease BEFREE LSE was associated with depression and anxiety symptoms. 28285253 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.030 Biomarker phenotype BEFREE LSE was associated with depression and anxiety symptoms. 28285253 2017
CUI: C0028259
Disease: Nodule
Nodule
0.020 Biomarker phenotype BEFREE (LSBR-3) (KF906140) and non-rhizobial nodule endophytic diazotroph Leclercia adecarboxylata (LSE-1) (KX925974) with multifunctional plant growth promoting (PGP) traits in cereal based cropping system (Rice-Wheat). 31673798 2019
CUI: C0028259
Disease: Nodule
Nodule
0.020 Biomarker phenotype BEFREE Synergism of Pseudomonas aeruginosa (LSE-2) nodule endophyte with Bradyrhizobium sp. (LSBR-3) for improving plant growth, nutrient acquisition and soil health in soybean. 30834977 2019
Diabetes Mellitus, Insulin-Dependent
0.020 Biomarker disease BEFREE Sialic acid acetylesterase (SIAE) plays a crucial role in regulating the threshold of autoantibody production of B-cells and the defective variants of SIAE are associated with an increased risk of various autoimmune diseases such as type 1 diabetes (T1DM). 24748456 2014
Diabetes Mellitus, Insulin-Dependent
0.020 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
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 Biomarker disease 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