rs587777609, STING1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.810 GeneticVariation UNIPROT Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP. 30842659 2019
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.810 GeneticVariation BEFREE Patients with this mutation (STING N154S in humans) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. 30463976 2019
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.810 GeneticVariation UNIPROT Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 25401470 2014
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.810 GeneticVariation UNIPROT Activated STING in a vascular and pulmonary syndrome. 25029335 2014
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
CUI: C4014722
Disease: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
0.810 CausalMutation CLINVAR
Autoinflammatory disease
CUI: C3267073
Disease: Autoinflammatory disease
0.010 GeneticVariation BEFREE Patients with this mutation (STING N154S in humans) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. 30463976 2019
STING-associated vasculopathy with onset in infancy
CUI: C4040879
Disease: STING-associated vasculopathy with onset in infancy
0.010 GeneticVariation BEFREE Patients with this mutation (STING N154S in humans) develop STING-associated vasculopathy with onset in infancy (SAVI), a severe pediatric autoinflammatory disease characterized by pulmonary fibrosis. 30463976 2019
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
0.010 GeneticVariation BEFREE STING N153S mice were highly vulnerable to infection and developed pulmonary fibrosis after infection. 30463976 2019