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: 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