Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.370 | Biomarker | group | CTD_human | |||||||
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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 | ||||
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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 | ||||
|
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 | ||||
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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 | ||||
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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 | ||||
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0.370 | GeneticVariation | group | BEFREE | Our results show that <i>SIAE</i> rare variants are not causative of autoimmunity as single defects. | 28900629 | 2017 | ||||
|
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 |