|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
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
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI).
|
31144250 |
2019 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Cryo-EM structures of STING reveal its mechanism of activation by cyclic GMP-AMP.
|
30842659 |
2019 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the STING-encoding gene TMEM173 are central to the pathology of the autoinflammatory disorder STING-associated vasculopathy with onset in infancy (SAVI).
|
30796349 |
2019 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.
|
28484079 |
2017 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation).
|
27613991 |
2016 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
STING Activation by Translocation from the ER Is Associated with Infection and Autoinflammatory Disease.
|
26235147 |
2015 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
|
25401470 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Activated STING in a vascular and pulmonary syndrome.
|
25029335 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GermlineCausalMutation
|
disease |
ORPHANET |
Activated STING in a vascular and pulmonary syndrome.
|
25029335 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
STING-associated vasculopathy with onset in infancy (SAVI) is an autoinflammatory disease caused by gain-of-function mutations in TMEM173.
|
25029335 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Activated STING in a vascular and pulmonary syndrome.
|
25029335 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Activated STING in a vascular and pulmonary syndrome.
|
25029335 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
GeneticVariation
|
disease |
UNIPROT |
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
|
25401470 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
|
25401470 |
2014 |
|
STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Squamous cell carcinoma of esophagus
|
0.400 |
Biomarker
|
disease |
CTD_human |
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
|
25129146 |
2014 |
|
Squamous cell carcinoma of esophagus
|
0.400 |
GeneticVariation
|
disease |
GWASCAT |
Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.
|
25129146 |
2014 |
|
Autoinflammatory disorder
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the STING-encoding gene TMEM173 are central to the pathology of the autoinflammatory disorder STING-associated vasculopathy with onset in infancy (SAVI).
|
30796349 |
2019 |
|
Chilblain lupus 1
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Familial chilblain lupus due to a gain-of-function mutation in STING.
|
27566796 |
2017 |
|
Chilblain lupus 1
|
0.310 |
Biomarker
|
disease |
CTD_human |
In a multigenerational family with five members affected with chilblain lupus, we identified a heterozygous mutation of STING, a signalling molecule in the cytosolic DNA sensing pathway.
|
27566796 |
2017 |
|
Autoinflammatory disorder
|
0.310 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations.
|
25401470 |
2014 |
|
Lung Diseases, Interstitial
|
0.130 |
GeneticVariation
|
group |
BEFREE |
Stimulator of interferon genes associated vasculopathy with onset in infancy (SAVI), caused by heterozygote gain-of-function mutations in TMEM173, is characterized by fever attacks with ulcerating cutaneous manifestations on cold-sensitive areas and interstitial lung disease.
|
31626957 |
2020 |
|
Lung Diseases, Interstitial
|
0.130 |
Biomarker
|
group |
BEFREE |
In addition, pulmonary alveolar proteinosis is associated with mutations in CSF2RA, CSF2RB, and MARS, and specific auto-inflammatory forms of chILD implicate STING and COPA disorders.
|
29517585 |
2018 |
|
Lung Diseases, Interstitial
|
0.130 |
Biomarker
|
group |
BEFREE |
• SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease.
|
26584874 |
2016 |