SIAE, sialic acid acetylesterase, 54414

N. diseases: 30; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143070599
rs143070599
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.800 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs201877149
rs201877149
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.800 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs143070599
rs143070599
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		A 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs201877149
rs201877149
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		G 0.800 SusceptibilityMutation CLINVAR
dbSNP: rs12282107
rs12282107
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C0523465
Disease:
Serum albumin measurement 		C 0.700 GeneticVariation GWASDB Genetic determinants influencing human serum metabolome among African Americans. 24625756 2014
dbSNP: rs149466359
rs149466359
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs200862001
rs200862001
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs552372846
rs552372846
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs749579541
rs749579541
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT Functionally defective germline variants of sialic acid acetylesterase in autoimmunity. 20555325 2010
dbSNP: rs144510878
rs144510878
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs376857712
rs376857712
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT
dbSNP: rs746914032
rs746914032
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT
dbSNP: rs757586703
rs757586703
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 GeneticVariation UNIPROT
dbSNP: rs78778622
rs78778622
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C3150797
Disease:
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		C 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs7941523
rs7941523
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C4046049
Disease:
Anti-PIT-1 Antibody Syndrome 		0.010 GeneticVariation BEFREE Intriguingly, we found A467V SIAE variants (c.1400C>T, rs7941523) in a heterozygous state in all the patients with anti-PIT-1 antibody syndrome, while we detected in 6 % of control subjects, in which the prevalence was significantly increased in the patients (P<0.0005). 24748456 2014
dbSNP: rs78778622
rs78778622
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent 		0.010 GeneticVariation BEFREE The prevalence of Met89Val homozygosity was similar among patients (GD: 0.4%, n = 2; T1DM: 0.3%, n = 1) and controls (0.4%, n = 7) yielding OR of 0.93 [95% confidence interval (CI): 0.19-4.48, P = 0.9] and 0.69 (95% CI: 0.08-5.59, P = 0.71) for GD and T1DM, respectively. 21615338 2011
dbSNP: rs78778622
rs78778622
Entrez Id: 54414
Gene Symbol: SIAE
SIAE
CUI: C0018213
Disease:
Graves Disease 		0.010 GeneticVariation 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