SAVI
MCID: STN012
MIFTS: 42

Sting-Associated Vasculopathy, Infantile-Onset (SAVI)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Skin diseases

Aliases & Classifications for Sting-Associated Vasculopathy, Infantile-Onset

MalaCards integrated aliases for Sting-Associated Vasculopathy, Infantile-Onset:

Name: Sting-Associated Vasculopathy, Infantile-Onset 56 73 29 6 39 71
Savi 56 58 73
Sting-Associated Vasculopathy with Onset in Infancy 58

Characteristics:

Orphanet epidemiological data:

58
sting-associated vasculopathy with onset in infancy
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in first weeks of life
vasculitic symptoms are associated with cold exposure (in some patients)


HPO:

31
sting-associated vasculopathy, infantile-onset:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity neonatal onset


Classifications:

Orphanet: 58  
Rare circulatory system diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Sting-Associated Vasculopathy, Infantile-Onset

OMIM : 56 STING-associated vasculopathy with onset in infancy is an autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation. Many patients have interstitial lung disease. Tissue biopsy and laboratory findings show a hyperinflammatory state, with evidence of increased beta-interferon (IFNB1; 147640) signaling (summary by Liu et al., 2014). (615934)

MalaCards based summary : Sting-Associated Vasculopathy, Infantile-Onset, also known as savi, is related to sting-associated vasculopathy with onset in infancy and singleton-merten syndrome, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy, Infantile-Onset is STING1 (Stimulator Of Interferon Response CGAMP Interactor 1). The drugs interferons and Interferon-alpha have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and breast, and related phenotypes are joint stiffness and arthralgia

UniProtKB/Swiss-Prot : 73 STING-associated vasculopathy, infantile-onset: An autoinflammatory disease characterized by early-onset systemic inflammation and cutaneous vasculopathy, resulting in severe skin lesions. Violaceous, scaling lesions of fingers, toes, nose, cheeks and ears progress to acral necrosis in most of the patients. Some patients have severe interstitial lung disease.

Related Diseases for Sting-Associated Vasculopathy, Infantile-Onset

Diseases in the Sting-Associated Vasculopathy, Infantile-Onset family:

Sting-Associated Vasculopathy with Onset in Infancy

Diseases related to Sting-Associated Vasculopathy, Infantile-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 28, show less)
# Related Disease Score Top Affiliating Genes
1 sting-associated vasculopathy with onset in infancy 12.0
2 singleton-merten syndrome 11.3
3 interstitial lung disease 10.3
4 exanthem 10.3
5 vasculitis 10.3
6 autoimmune disease 10.2
7 pulmonary fibrosis 10.2
8 lymphopenia 10.2
9 lung disease 10.2
10 gastroesophageal reflux 10.1
11 myositis 10.1
12 diffuse alveolar hemorrhage 10.1
13 migraine with or without aura 1 10.1
14 dowling-degos disease 1 10.1
15 helicobacter pylori infection 10.1
16 systemic lupus erythematosus 2 10.1
17 pulmonary hypertension 10.1
18 respiratory failure 10.1
19 diphtheria 10.1
20 telangiectasis 10.1
21 focal segmental glomerulosclerosis 10.1
22 cholera 10.1
23 fibrosarcoma 10.1
24 breast disease 10.1
25 severe combined immunodeficiency 10.1
26 lupus erythematosus 10.1
27 splenomegaly 10.1
28 headache 10.1

Graphical network of the top 20 diseases related to Sting-Associated Vasculopathy, Infantile-Onset:



Diseases related to Sting-Associated Vasculopathy, Infantile-Onset

Symptoms & Phenotypes for Sting-Associated Vasculopathy, Infantile-Onset

Human phenotypes related to Sting-Associated Vasculopathy, Infantile-Onset:

31 (showing 22, show less)
# Description HPO Frequency HPO Source Accession
1 joint stiffness 31 occasional (7.5%) HP:0001387
2 arthralgia 31 occasional (7.5%) HP:0002829
3 myalgia 31 occasional (7.5%) HP:0003326
4 myositis 31 occasional (7.5%) HP:0100614
5 raynaud phenomenon 31 occasional (7.5%) HP:0030880
6 recurrent respiratory infections 31 HP:0002205
7 failure to thrive 31 HP:0001508
8 fever 31 HP:0001945
9 anemia 31 HP:0001903
10 erythema 31 HP:0010783
11 growth delay 31 HP:0001510
12 cutis marmorata 31 HP:0000965
13 nail dystrophy 31 HP:0008404
14 interstitial pulmonary abnormality 31 HP:0006530
15 leukopenia 31 HP:0001882
16 elevated erythrocyte sedimentation rate 31 HP:0003565
17 pustule 31 HP:0200039
18 telangiectasia 31 HP:0001009
19 follicular hyperplasia 31 HP:0002729
20 thrombocytosis 31 HP:0001894
21 malar rash 31 HP:0025300
22 increased circulating antibody level 31 HP:0010702

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
recurrent respiratory infections

Metabolic Features:
fever

Skin Nails Hair Skin:
erythema
telangiectasia
malar rash
livedo reticularis
ulceration
more
Skin Nails Hair Nails:
nail dystrophy
nail loss
nailfold capillary tortuosity

Laboratory Abnormalities:
increased erythrocyte sedimentation rate
increased c-reactive protein

Muscle Soft Tissue:
myalgia (in some patients)
myositis (in some patients)

Cardiovascular Vascular:
vasculitis, particularly of the capillaries

Skeletal Feet:
amputation resulting from acral necrosis (in some patients)

Growth Other:
failure to thrive
poor growth

Hematology:
anemia
thrombocytosis

Immunology:
recurrent infections
leukopenia
hypergammaglobulinemia
decreased t cells
normal b cells
more
Respiratory Lung:
follicular hyperplasia
interstitial lung disease
lung fibrosis
macrophage alveolitis

Skeletal:
arthralgia (in some patients)
joint stiffness (in some patients)

Head And Neck Nose:
nasal septal perforation (in some patients)

Skeletal Hands:
amputation resulting from acral necrosis (in some patients)

Clinical features from OMIM:

615934

UMLS symptoms related to Sting-Associated Vasculopathy, Infantile-Onset:


fever, onychomadesis

Drugs & Therapeutics for Sting-Associated Vasculopathy, Infantile-Onset

Drugs for Sting-Associated Vasculopathy, Infantile-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 interferons
2 Interferon-alpha

Interventional clinical trials:

(showing 13, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Three Fraction Accelerated Partial Breast Irradiation as the Sole Method of Radiation Therapy for Low-risk Stage 0 and I Breast Carcinoma Recruiting NCT03612648 Phase 1, Phase 2
2 A Prospective, Single-Arm, Multi-Site, Clinical Evaluation of the SAVI SCOUT® Surgical Guidance System for the Location of Non-Palpable Breast Lesions During Excision Unknown status NCT02370082
3 ACURATE TA™ Valve Implantation: SAVI Registry (Surveillance Plan #2011-02) (TA-SAVI) Completed NCT03143686
4 Symetis ACURATE Neo™ Valve Implantation Using TransFemoral Access: SAVI TF Registry Completed NCT02306226
5 Drain Placement for Seroma Prevention After Mammosite/SAVI Catheter Removal Completed NCT02390661
6 Evaluation of Longer Duration Use of the SAVI SCOUT Surgical Guidance System for Excision of Breast and Axillary Lesions in Neo-adjuvant Therapy Patients: A Pilot Study Completed NCT03015649
7 Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis Recruiting NCT00059748
8 Acral Cutaneous Thrombotic Vasculopathy and Covid-19 Infection: Search for Acquired Thrombophilia and Interferon-alpha Signature Recruiting NCT04361786
9 Using Radar Technology to Tag Abnormal Lymph Nodes for Removal During Surgery Following Neoadjuvant Chemotherapy Recruiting NCT03411070
10 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, NLRC4-MAS, Still S-like Diseases, and Other Undifferentiated Autoinflammatory Diseases) Recruiting NCT02974595
11 The Use of Virtual Reality During Breast Localization Procedures Not yet recruiting NCT04251507
12 Compassionate Use Treatment Protocol I4V-MC-JAGA: Treatment of Conditions Expected to Benefit From JAK 1/2 Inhibition: CANDLE, CANDLE-Related Conditions, SAVI and Severe Juvenile Dermatomyositis No longer available NCT01724580 Baricitinib
13 Patient Registry for Prospective Research on Evolving Radiation Oncology Techniques and Quality Withdrawn NCT02368106

Search NIH Clinical Center for Sting-Associated Vasculopathy, Infantile-Onset

Genetic Tests for Sting-Associated Vasculopathy, Infantile-Onset

Genetic tests related to Sting-Associated Vasculopathy, Infantile-Onset:

# Genetic test Affiliating Genes
1 Sting-Associated Vasculopathy, Infantile-Onset 29 STING1

Anatomical Context for Sting-Associated Vasculopathy, Infantile-Onset

MalaCards organs/tissues related to Sting-Associated Vasculopathy, Infantile-Onset:

40
Lung, Skin, Breast, Bone, Lymph Node, T Cells, B Cells

Publications for Sting-Associated Vasculopathy, Infantile-Onset

Articles related to Sting-Associated Vasculopathy, Infantile-Onset:

(showing 260, show less)
# Title Authors PMID Year
1
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. 56 6
25401470 2014
2
Activated STING in a vascular and pulmonary syndrome. 61 56
25029335 2014
3
Using Landsat satellites to assess the impact of check dams built across erosive gullies on vegetation rehabilitation. 61
32388364 2020
4
A comparison of two non-radioactive alternatives to wire for the localization of non-palpable breast cancers. 61
32451679 2020
5
Adapting CHMTRN (CHeMistry TRaNslator) for a New Use. 61
32539385 2020
6
Diversity of repetitive sequences within compact genomes of Phaseolus L. beans and allied genera Cajanus L. and Vigna Savi. 61
31734754 2020
7
STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice. 61
32553167 2020
8
Estimating reed loss caused by Locusta migratoria manilensis using UAV-based hyperspectral data. 61
32120114 2020
9
Type I interferon-independent T cell impairment in a Tmem173 N153S/WT mouse model of STING associated vasculopathy with onset in infancy (SAVI). 61
32470544 2020
10
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype. 61
32398023 2020
11
Dosimetric Limitations in Treating Breast Cancer with Accelerated Partial Breast Irradiation Using Strut Adjusted Volume Implant (SAVI). 61
32377476 2020
12
Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies. 61
32252809 2020
13
Interplay of Cyclic GMP-AMP Synthase/Stimulator of IFN Genes and Toll-Like Receptor Nucleic Acid Sensing Pathways in Autoinflammation and Abnormal Bone Formation due to DNaseII-Deficiency. 61
32286184 2020
14
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2020
15
Comparison of wire localization, radioactive seed, and Savi scout® radar for management of surgical breast disease. 61
31448530 2020
16
Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey. 61
31626957 2020
17
APOL1-Associated Collapsing Focal Segmental Glomerulosclerosis in a Patient With Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset in Infancy (SAVI). 61
31601430 2020
18
Permanent pacemaker lead insertion connected to an external pacemaker generator for temporary pacing after transcatheter aortic valve implantation. 61
32171678 2020
19
Association between residential greenness and metabolic syndrome in Chinese adults. 61
31837524 2020
20
Greenness around schools associated with lower risk of hypertension among children: Findings from the Seven Northeastern Cities Study in China. 61
31672364 2020
21
So Close and Yet So Irritating: Negative Relations and Implications for Well-being by Age and Closeness. 61
29596623 2020
22
Evaluating uncertainty in Landsat-derived postfire recovery metrics due to terrain, soil, and shrub type variations in southern California. 61
32076393 2020
23
Predicting grain protein content of field-grown winter wheat with satellite images and partial least square algorithm. 61
32160185 2020
24
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib. 61
31705453 2020
25
Inter-fractional variations in the dosimetric parameters of accelerated partial breast irradiation using a strut-adjusted volume implant. 61
31665490 2020
26
What's new in autoinflammation? 61
30552566 2019
27
The Challenge of Diagnosing SAVI: Case Studies. 61
32140288 2019
28
(Q)SAR Models of HIV-1 Protein Inhibition by Drug-Like Compounds. 61
31881687 2019
29
Associations of Residential Greenness with Diabetes Mellitus in Chinese Uyghur Adults. 61
31888136 2019
30
Maize Crop Coefficient Estimated from UAV-Measured Multispectral Vegetation Indices. 61
31795309 2019
31
The GA-BPNN-Based Evaluation of Cultivated Land Quality in the PSR Framework Using Gaofen-1 Satellite Data. 61
31771107 2019
32
Meta-analysis of Temporal and Surgical Risk Dependent Associations With Outcomes After Transcatheter Versus Surgical Aortic Valve Implantation. 61
31521258 2019
33
Spatial and temporal variation of the vegetation of the semiarid Puna in a pastoral system in the Pozuelos Biosphere Reserve. 61
31522254 2019
34
SAVI SCOUT as a Novel Localization and Surgical Navigation System for More Accurate Localization and Resection of Pulmonary Nodules. 61
31027475 2019
35
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome. 61
31144250 2019
36
Residential greenness and blood lipids in urban-dwelling adults: The 33 Communities Chinese Health Study. 61
30981931 2019
37
[Fraction of absorbed photosynthetically active radiation over summer maize canopy estimated by hyperspectral remote sensing under different drought conditions.] 61
31257775 2019
38
Biological activity of new flavonoids and phenolic compounds from Cirsium italicum (Savi) DC. 61
31219371 2019
39
Expression of a constitutively active human STING mutant in hematopoietic cells produces an Ifnar1-dependent vasculopathy in mice. 61
31221625 2019
40
Community greenness, blood pressure, and hypertension in urban dwellers: The 33 Communities Chinese Health Study. 61
30878868 2019
41
Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models. 61
30944222 2019
42
Trajectories of Perceived Workplace Age Discrimination and Long-Term Associations With Mental, Self-Rated, and Occupational Health. 61
28977664 2019
43
Associations of greenness with diabetes mellitus and glucose-homeostasis markers: The 33 Communities Chinese Health Study. 61
30545606 2019
44
STING palmitoylation as a therapeutic target. 61
30796349 2019
45
A comparison of satellite-based indices for hazard assessment of MSW open dumps using spatial analysis. 61
30537910 2019
46
[Discovering new antiretroviral compounds in "Big Data" chemical space of the SAVI library]. 61
30950810 2019
47
A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice. 61
30463976 2019
48
Response of plant production to growing/non-growing season asymmetric warming in an alpine meadow of the Northern Tibetan Plateau. 61
30296774 2019
49
TMEM173 variants and potential importance to human biology and disease. 61
29728611 2019
50
Prospective Comparison of Toxicity and Cosmetic Outcome After Accelerated Partial Breast Irradiation With Conformal External Beam Radiotherapy or Single-Entry Multilumen Intracavitary Brachytherapy. 61
30125673 2019
51
Novel TMEM173 Mutation and the Role of Disease Modifying Alleles. 61
31866997 2019
52
Satellite image fusion to detect changing surface permeability and emerging urban heat islands in a fast-growing city. 61
30601832 2019
53
Greenspace seems protective of both high and low blood pressure among residents of an Alpine valley. 61
30273867 2018
54
Monitoring ecosystem reclamation recovery using optical remote sensing: Comparison with field measurements and eddy covariance. 61
29906733 2018
55
Daily Social Interactions and the Biological Stress Response: Are There Age Differences in Links Between Social Interactions and Alpha-Amylase? 61
29240901 2018
56
SAVI SCOUT® localization of breast lesions as a practical alternative to wires: Outcomes and suggestions for trouble-shooting. 61
30193186 2018
57
Pharmacokinetics, Pharmacodynamics, and Proposed Dosing of the Oral JAK1 and JAK2 Inhibitor Baricitinib in Pediatric and Young Adult CANDLE and SAVI Patients. 61
29134648 2018
58
Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling. 61
30061387 2018
59
Evolution of brachytherapy treatment planning to deterministic radiation transport for calculation of cardiac dose. 61
29609845 2018
60
[Retrieval of leaf area index of Phyllostachys praecox forest based on MODIS reflectance time series data.] 61
30039679 2018
61
Safe Birth and Cultural Safety in southern Mexico: study protocol for a randomised controlled trial. 61
29973241 2018
62
Behavior of vegetation/soil indices in shaded and sunlit pixels and evaluation of different shadow compensation methods using UAV high-resolution imagery over vineyards. 61
31086430 2018
63
The SAVI-TF Registry: 1-Year Outcomes of the European Post-Market Registry Using the ACURATE neo Transcatheter Heart Valve Under Real-World Conditions in 1,000 Patients. 61
30025731 2018
64
Utilization of multiple SAVI SCOUT surgical guidance system reflectors in the same breast: A single-institution feasibility study. 61
29251387 2018
65
JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. 61
29649002 2018
66
Type I IFN-related NETosis in ataxia telangiectasia and Artemis deficiency. 61
29155101 2018
67
Study on the dose modification factor of strut adjusted volume implant (SAVI) with a 169Yb source using MCNP4C. 61
29756165 2018
68
Combination of lumped hydrological and remote-sensing models to evaluate water resources in a semi-arid high altitude ungauged watershed of Sierra Nevada (Southern Spain). 61
29289777 2018
69
Applicability of Downscaling Land Surface Temperature by Using Normalized Difference Sand Index. 61
29934513 2018
70
Development of a Validated Interferon Score Using NanoString Technology. 61
29638206 2018
71
[Stimulator of interferon genes-associated vasculopathy with onset in infancy: first case report in China]. 61
29518827 2018
72
Outcomes by molecular subtype after accelerated partial breast irradiation using single-entry catheters. 61
29146102 2018
73
[Advances in the studies on topographic effects of vegetation indices.] 61
29692084 2018
74
Real-world experience using the ACURATE neo prosthesis: 30-day outcomes of 1,000 patients enrolled in the SAVI TF registry. 61
29131801 2018
75
Phaeophleospora vochysiae Savi & Glienke sp. nov. Isolated from Vochysia divergens Found in the Pantanal, Brazil, Produces Bioactive Secondary Metabolites. 61
29449610 2018
76
Vasculitis in Systemic Autoinflammatory Diseases. 61
30560109 2018
77
Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes. 61
29032440 2018
78
Efficiency of using the day-of-implant CT for planning of SAVI APBI. 61
28869144 2018
79
An index for discrimination of mangroves from non-mangroves using LANDSAT 8 OLI imagery. 61
30302319 2018
80
How to Achieve Better Results Using PASS-Based Virtual Screening: Case Study for Kinase Inhibitors. 61
29755970 2018
81
A Mutation Outside the Dimerization Domain Causing Atypical STING-Associated Vasculopathy With Onset in Infancy. 61
30038614 2018
82
Reflector-guided breast tumor localization versus wire localization for lumpectomies: A comparison of surgical outcomes. 61
28818762 2018
83
IRF3 and type I interferons fuel a fatal response to myocardial infarction. 61
29106401 2017
84
[Strut Adjusted Volume Implant(SAVI) - An Interim Report of Patient Satisfaction and Outcomes]. 61
29394682 2017
85
STING-associated vasculopathy develops independently of IRF3 in mice. 61
28951494 2017
86
Clipping has stronger effects on plant production than does warming in three alpine meadow sites on the Northern Tibetan Plateau. 61
29180638 2017
87
Clovamide and clovamide-rich extracts of three Trifolium species as antioxidants and moderate antiplatelet agents in vitro. 61
28777978 2017
88
Localization for Breast Surgery: The Next Generation. 61
28968154 2017
89
Postcolumn determination of polyphenolic antioxidants in Cirsium vulgare (Savi) Ten. extracts. 61
28779529 2017
90
Implementing the SAVI SCOUT System in Community Radiology Practice. 61
28601614 2017
91
Digital soil mapping using remote sensing indices, terrain attributes, and vegetation features in the rangelands of northeastern Iran. 61
28894961 2017
92
Relationship between hyperspectral indices, agronomic parameters and phenolic composition of Vitis vinifera cv Tempranillo grapes. 61
28397240 2017
93
Beyond Wires and Seeds: Reflector-guided Breast Lesion Localization and Excision. 61
28430555 2017
94
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling. 61
28087229 2017
95
Chemical Composition, Antibacterial, Antibiofilm and Synergistic Properties of Essential Oils from Eucalyptus globulus Labill. and Seven Mediterranean Aromatic Plants. 61
28281322 2017
96
Desert Vegetation Forty Years after an Oil Spill. 61
28724112 2017
97
Transcatheter aortic valve implantation using the ACURATE TA™ system: 1-year outcomes and comparison of 500 patients from the SAVI registries. 61
28175264 2017
98
SAVI: Synthetic apertures for long-range, subdiffraction-limited visible imaging using Fourier ptychography. 61
28439550 2017
99
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 61
27873163 2017
100
Analysis of land cover/use changes using Landsat 5 TM data and indices. 61
28251451 2017
101
Calamintha nepeta (L.) Savi and its Main Essential Oil Constituent Pulegone: Biological Activities and Chemistry. 61
28216606 2017
102
Strut-adjusted volume implant (SAVI) brachytherapy-based accelerated partial breast irradiation (APBI) in African American women. 61
28070767 2017
103
Monosaccharide composition of acidic gum exudates from Indian Acacia tortilis ssp. raddiana (Savi) Brenan. 61
27693833 2017
104
Methods of Assessing STING Activation and Trafficking. 61
28808969 2017
105
Essential Oil Extraction, Chemical Analysis and Anti-Candida Activity of Calamintha nepeta (L.) Savi subsp. glandulosa (Req.) Ball-New Approaches. 61
28134788 2017
106
Missing in action: Species competition is a neglected predictor variable in species distribution modelling. 61
28708854 2017
107
Phenolic profile, antioxidant activity and enzyme inhibitory activities of extracts from aromatic plants used in Mediterranean diet. 61
28242919 2017
108
Age differences in negative emotional responses to daily stressors depend on time since event. 61
28026195 2017
109
Comparative Performance of Ground vs. Aerially Assessed RGB and Multispectral Indices for Early-Growth Evaluation of Maize Performance under Phosphorus Fertilization. 61
29230230 2017
110
Lung Involvement in Children with Hereditary Autoinflammatory Disorders. 61
27983684 2016
111
Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus. 61
27678529 2016
112
Evaluation of the SAVI SCOUT Surgical Guidance System for Localization and Excision of Nonpalpable Breast Lesions: A Feasibility Study. 61
27304083 2016
113
Integrating Remote Sensing with Species Distribution Models; Mapping Tamarisk Invasions Using the Software for Assisted Habitat Modeling (SAHM). 61
27768080 2016
114
A Prospective, Single Arm, Multi-site, Clinical Evaluation of a Nonradioactive Surgical Guidance Technology for the Location of Nonpalpable Breast Lesions during Excision. 61
27469121 2016
115
Studying bio-thermal effects at and around MSW dumps using Satellite Remote Sensing and GIS. 61
27129945 2016
116
Traditional knowledge and use of wild mushrooms by Mixtecs or Ñuu savi, the people of the rain, from Southeastern Mexico. 61
27595599 2016
117
Accelerated partial breast irradiation dosimetric criteria for the strut-adjusted volume implant. 61
27349857 2016
118
Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation). 61
27613991 2016
119
Prospective analysis of toxicity in patients treated with strut-adjusted volume implant for early-stage breast cancer. 61
27263058 2016
120
Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed. 61
27362340 2016
121
Medicinal plants used for ophthalmological problems in Navarra (Spain). 61
27269391 2016
122
Comparison of Dose Distributions With TG-43 and Collapsed Cone Convolution Algorithms Applied to Accelerated Partial Breast Irradiation Patient Plans. 61
27315666 2016
123
Therapeutic potential of Benincasa cerifera: A review. 61
27465423 2016
124
The quality of social networks predicts age-related changes in cardiovascular reactivity to stress. 61
27294714 2016
125
Pilot Study of a New Nonradioactive Surgical Guidance Technology for Locating Nonpalpable Breast Lesions. 61
26847680 2016
126
Assessing the Spatial Variability of Alfalfa Yield Using Satellite Imagery and Ground-Based Data. 61
27281189 2016
127
Prediction of Potato Crop Yield Using Precision Agriculture Techniques. 61
27611577 2016
128
[Comparison of precision in retrieving soybean leaf area index based on multi-source remote sensing data]. 61
27228609 2016
129
Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy. 61
26584874 2016
130
[Soil Salinity Estimation Based on Near-Ground Multispectral Imagery in Typical Area of the Yellow River Delta]. 61
27228776 2016
131
Environmental Humidity Regulates Effects of Experimental Warming on Vegetation Index and Biomass Production in an Alpine Meadow of the Northern Tibet. 61
27798690 2016
132
[Health and social conditions in Brod na Savi during World War I]. 61
27639040 2015
133
[World war I as seen by Franciscans of Slavonski Brod]. 61
27639047 2015
134
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis. 61
25992765 2015
135
[Autoinflammatory syndromes in childhood]. 61
26238708 2015
136
Comparative dosimetric findings using accelerated partial breast irradiation across five catheter subtypes. 61
26227388 2015
137
Applicability of VI in arid vegetation delineation using shadow-affected SPOT imagery. 61
26093893 2015
138
Adjusting spectral indices for spectral response function differences of very high spatial resolution sensors simulated from field spectra. 61
25781511 2015
139
Phenotypic and biochemical characterization of root nodule bacteria naturally associated with woody tree legumes in Saudi Arabia. 61
25895257 2015
140
Heterochromatin characterization through differential fluorophore binding pattern in some species of Vigna Savi. 61
25303854 2015
141
[Midwives in Brod na Savi (Croatia) in 19th century]. 61
27604199 2015
142
Pattern recognition with adaptive-thresholds for sleep spindle in high density EEG signals. 61
26736332 2015
143
Heterochromatin distribution and comparative karyo-morphological studies in Vignaumbellata Thunberg, 1969 and V.aconitifolia Jacquin, 1969 (Fabaceae) accessions. 61
25893079 2015
144
Ontogeny of the extrafloral nectaries of Vigna adenantha (Leguminosae, Phaseolae) and its relation with floral development. 61
28510960 2014
145
Self-DNA, STING-dependent signaling and the origins of autoinflammatory disease. 61
25459004 2014
146
Spatial distribution and environmental factors associated to phlebotomine fauna in a border area of transmission of visceral leishmaniasis in Mato Grosso do Sul, Brazil. 61
24898032 2014
147
Estimation for sparse vegetation information in desertification region based on Tiangong-1 hyperspectral image. 61
25208406 2014
148
Vegetation response to hydrologic and geomorphic factors in an arid region of the Baja California Peninsula. 61
24078051 2014
149
Vignayadavii (Leguminosae: Papilionoideae), a new species from Western Ghats, India. 61
25589877 2014
150
Transapical transcatheter aortic valve implantation using the second-generation self-expanding Symetis ACURATE TA valve. 61
25298363 2014
151
Genome sequence of the clover-nodulating Rhizobium leguminosarum bv. trifolii strain SRDI943. 61
24976880 2013
152
[Grey analysis of NIR spectra and prediction of nitrogen content in jujube leaves]. 61
24555386 2013
153
Macro- and microelement contents of some legume seeds. 61
23715731 2013
154
Comparison of planning techniques when air/fluid is present using the strut-adjusted volume implant (SAVI) for HDR-based accelerated partial breast irradiation. 61
24257287 2013
155
Dose modification factor analysis of multilumen balloon brachytherapy applicator with Monte Carlo simulation. 61
24892326 2013
156
Intraspecific variability of the essential oil of Calamintha nepeta subsp. nepeta from Southern Italy (Apulia). 61
22646908 2013
157
Age-related patterns in negative affect and appraisals about colorectal cancer over time. 61
22612558 2013
158
Postharvest management affects spearmint and calamint essential oils. 61
22936517 2013
159
Individual and joint activity of terpenoids, isolated from Calamintha nepeta extract, on Arabidopsis thaliana. 61
23972283 2013
160
Chemical composition and biological activities of the essential oil from Calamintha nepeta plants from the wild in southern Italy. 61
23472480 2013
161
SAVI: a statistical algorithm for variant frequency identification. 61
24564980 2013
162
Phytotoxic activity of foliar volatiles and essential oils of Calamintha nepeta (L.) Savi. 61
23216166 2013
163
Molecular cloning and characterization of procirsin, an active aspartic protease precursor from Cirsium vulgare (Asteraceae). 61
22727116 2012
164
Tumor bed-to-skin distance using accelerated partial-breast irradiation with the strut-adjusted volume implant device. 61
22104353 2012
165
SU-D-213AB-04: Evaluation of the Dose Calculation in a Commercial Planning System for a Breast Cancer Brachytherapy Technology Using Monte Carlo Simulation. 61
28517425 2012
166
SU-E-T-229: Monte Carlo Dosimetric Study of SAVI HDR Applicator for Partial Breast Irradiation. 61
28517358 2012
167
SU-E-T-236: Brachytherapy for Breast Cancer Patients with Implanted Pacemeker, Using Multi Lumen Partial Breast Applicator. 61
28517320 2012
168
SU-E-T-432: Comparison of HDR Treatment Plans for Interstitial Brachytherapy with Intracavitary Savi Brachytherapy for Post Lumpectomy Breast Cancer. 61
28517223 2012
169
SU-E-T-322: A Dosimetric Comparison of PBI Brachytherapy Techniques: SAVI, Contura, and Tube and Button Applicators. 61
28517257 2012
170
SU-E-T-309: Dosimetric Study and Clinical Implementation of an HDR Applicator of SAVI for Partial Breast Irradiation. 61
28517287 2012
171
Investigation of the chemical composition-antibacterial activity relationship of essential oils by chemometric methods. 61
22389175 2012
172
On the feasibility of treating to a 1.5 cm PTV with a commercial single-entry hybrid applicator in APBI breast brachytherapy. 61
23346137 2012
173
Comparative chemical composition and antioxidant activity of Calamintha nepeta (L.) Savi subsp. glandulosa (Req.) Nyman and Calamintha grandiflora (L.) Moench (Labiatae). 61
21861645 2012
174
Evaluation of two intracavitary high-dose-rate brachytherapy devices for irradiating additional and irregularly shaped volumes of breast tissue. 61
21458981 2012
175
A case report on bilateral partial breast irradiation using SAVI. 61
22192486 2012
176
[Cross comparison of ASTER and Landsat ETM+ multispectral measurements for NDVI and SAVI vegetation indices]. 61
21942048 2011
177
Initial clinical experience with the Strut-Adjusted Volume Implant (SAVI) breast brachytherapy device for accelerated partial-breast irradiation (APBI): first 100 patients with more than 1 year of follow-up. 61
20646847 2011
178
Accelerated partial breast irradiation using the strut-adjusted volume implant single-entry hybrid catheter in brachytherapy for breast cancer in the setting of breast augmentation. 61
20719576 2011
179
Dosimetric performance of Strut-Adjusted Volume Implant: a new single-entry multicatheter breast brachytherapy applicator. 61
20817617 2011
180
Mapping urban forest tree species using IKONOS imagery: preliminary results. 61
20140503 2011
181
Anatomy of subterranean organs of medicinally used cardueae and related species and its value for discrimination. 61
21617780 2011
182
Spatial prediction of habitat overlap of introduced and native thistles to identify potential areas of nontarget activity of biological control agents. 61
22182552 2010
183
Host utilization of field-caged native and introduced thistle species by Rhinocyllus conicus. 61
22182551 2010
184
Strength and vulnerability integration: a model of emotional well-being across adulthood. 61
21038939 2010
185
Chemical composition and biological assays of essential oils of Calamintha nepeta (L.) Savi subsp. nepeta (Lamiaceae). 61
20981614 2010
186
Accelerated Partial Breast Irradiation (APBI): A review of available techniques. 61
20920346 2010
187
Dosimetric effects of an air cavity for the SAVI partial breast irradiation applicator. 61
20879554 2010
188
Dosimetry evaluation of SAVI-based HDR brachytherapy for partial breast irradiation. 61
20927219 2010
189
[Research on remote sensing inversion biomass method based on the Suaeda salsa's measured spectrum]. 61
20672629 2010
190
Flavonoids and antioxidant activity of Rosa agrestis leaves. 61
20397108 2010
191
Evaluation of three APBI techniques under NSABP B-39 guidelines. 61
20160680 2009
192
Initial clinical experience with the Strut-Adjusted Volume Implant brachytherapy applicator for accelerated partial breast irradiation. 61
19744892 2009
193
The in vitro antimicrobial activities of the essential oils of some Lamiaceae species from Turkey. 61
19735193 2009
194
[Research on identification of species of fruit trees by spectral analysis]. 61
19798976 2009
195
Occurrence of Trichosirocalus horridus (Coleoptera: Curculionidae) on native Cirsium altissimum versus exotic C. vulgare in North American tallgrass prairie. 61
19508782 2009
196
Clinical implementation of a new HDR brachytherapy device for partial breast irradiation. 61
18952310 2009
197
[The estimation model of rice leaf area index using hyperspectral data based on support vector machine]. 61
18975815 2008
198
[Estimation models of vegetation fractional coverage (VFC) based on remote sensing image at different radiometric correction levels]. 61
18808023 2008
199
Effects of solvent-free microwave extraction on the chemical composition of essential oil of Calamintha nepeta (L.) Savi compared with the conventional production method. 61
18266294 2008
200
Stable annual pattern of water use by Acacia tortilis in Sahelian Africa. 61
17938118 2008
201
Sensitivity of the Enhanced Vegetation Index (EVI) and Normalized Difference Vegetation Index (NDVI) to Topographic Effects: A Case Study in High-density Cypress Forest. 61
28903251 2007
202
Remote and field level quantification of vegetation covariates for malaria mapping in three rice agro-village complexes in Central Kenya. 61
17550620 2007
203
Genetic diversity and phylogenetic relationships in Vigna Savi germplasm revealed by DNA amplification fingerprinting. 61
17632575 2007
204
Diurnal variation of remotely sensed ET and some indices on sweet cherry trees in subhumid climate conditions. 61
19069947 2007
205
Two babies, one heart, and no airway. 61
16707168 2006
206
Seldinger-assisted videotelescopic intubation (SAVI): a common sense approach to the difficult pediatric airway. 61
15886616 2005
207
An evaluation of a sexual assault prevention and advocacy program for U.S. Navy personnel. 61
15916303 2005
208
Influence of cover crops on insect pests and predators in conservation tillage cotton. 61
15384330 2004
209
Synthesis of novel 26-substituted milbemycin A4 derivatives and their acaricidal activities. 61
15376557 2004
210
Resistance of Glycine species and various cultivated legumes to the soybean aphid (Homoptera: Aphididae). 61
15279293 2004
211
Milbemycin alpha17 and related compounds synthesized from milbemycin A4: synthetic procedure and acaricidal activities. 61
14700278 2003
212
Effect of sodium metabisulphite on germination, growth and yield of Vigna sinensis, Savi. 61
15248661 2003
213
Artificial life and speciation, a case study: heterochromatin and speciation in the Microtus savii Group (Rodentia-Arvicolinae). 61
12852176 2003
214
Synthesis of milbemycins alpha9, alpha10, alpha11, alpha12, alpha14, alpha15, alpha20, alpha21, alpha22, alpha23, alpha26, alpha27, delta(2,3),delta(4,26)-milbemycins A3, A4 from milbemycins A3, A4, and their acaricidal activities. 61
12546420 2002
215
Synthesis of milbemycins beta9 and beta10 from milbemycins A3 and A4 and their biological activities. 61
12162570 2002
216
Re: "Chronic Helicobacter pylori infection and migraine: a case-control study" (Pinessi L, Savi L, Pellicano R, et al. Headache. 2000;40:836-839). 61
11903554 2002
217
A spatial analysis of obesogenic environments for children. 61
12463866 2002
218
Microfungi on compositae in the Ruhr Basin. 61
12701426 2002
219
cAMP is an important messenger for ADP-induced platelet aggregation. 61
16801098 1999
220
Morphology of the mechanosensory lateral line system in the Atlantic Stingray, Dasyatissabina: The mechanotactile hypothesis. 61
29852662 1998
221
First Report of Pythium ultimum, P. irregulare, Rhizoctonia solani AG4, and Fusarium proliferatum from Arrowleaf Clover (Trifolium vesiculosum): A Disease Complex. 61
30857054 1998
222
Results of left atrioventricular valve reconstruction after previous correction of atrioventricular septal defects. 61
9332927 1997
223
Patient-triggered ventilation: a comparison of tidal volume and chestwall and abdominal motion as trigger signals. 61
8856801 1996
224
Composition and antimicrobial properties of essential oils of four Mediterranean Lamiaceae. 61
8258973 1993
225
[Information theory as an instrument for research on verbal integration between the AIDS carrier and the nursing team]. 61
8165329 1993
226
Phylogenetic position of Rhizobium sp. strain Or 191, a symbiont of both Medicago sativa and Phaseolus vulgaris, based on partial sequences of the 16S rRNA and nifH genes. 61
1377901 1992
227
Karyology of the Savi pine vole, Microtus savii (De Sélys-Longchamps, 1838) (Rodentia, Arvicolidae): G-, C-, DA/DAPI-, and AluI-bands. 61
1544327 1992
228
Patient-triggered synchronized assisted ventilation of newborns. Report of a preliminary study and three years' experience. 61
1770392 1991
229
Brachial plexus injury: association with subclavian and axillary vascular trauma. 61
1942180 1991
230
[Verbal interaction between the nursing team and the AIDS patient]. 61
2082435 1990
231
Cationic form of beta-galactosidase in the germinating seeds of Vigna sinensis (Linn) Savi. 61
3098179 1986
232
[Description of Hymenolepis cerberensis n. sp. (Cestoda: Hymenolepididae) and first general considerations on the fauna of cestode parasites of the pygmy shrew Suncus etruscus (Savi, 1822) (Insectivora: Soricidae)]. 61
3813424 1986
233
Characterization of Rhizobia from Ineffective Alfalfa Nodules: Ability to Nodulate Bean Plants [Phaseolus vulgaris (L.) Savi.]. 61
16346942 1985
234
Inoculant maturity influences survival of rhizobia on seed. 61
16346738 1985
235
Immunopotentiator separated from hot water extract of the seed of Benincasa cerifera Savi (Tohgashi). 61
3872710 1985
236
Health professionals' patterns of communication: cross-purpose or problem solving? 61
6232248 1984
237
[The fine structure of spermatozoa from Chiroptera]. 61
6241406 1984
238
[Ultrastructural aspects of testicular interstitial cells in the bat (Vesperugo savi)]. 61
6241405 1984
239
[The fine structure of the efferent ductules of the duct of the epididymis of some Chiroptera (Vesperugo savi and Vesperugo piccolo)]. 61
6225286 1983
240
[Seasonal cyclic changes of the epithelium of the epididymis]. 61
6225288 1983
241
[Ultrastructure of the lymphatic vessels of the urinary bladder]. 61
6225279 1983
242
Callose induction in cowpea by uridine diphosphate glucose and calcium phosphate-boric Acid treatments. 61
16662210 1982
243
[Fine structure of the epiphysis of Chiroptera (Vesperugo savi and Vesperugo piccolo. II. Cytophysiological aspects during sexual cycle, reproductive activity and seasonal rhythm]. 61
6220550 1982
244
Regulation of the F-ATPase from mitochondria of Vigna sinensis (L.) Savi cv. Pitiuba by spermine, spermidine, putrescine, Mg2+, Na+, and K+. 61
6452941 1981
245
[Histochemical and ultrastructural aspects of the liver in certain Chiroptera (Vesperugo savi and Rinolophus f.e.) at different times of year]. 61
7213462 1980
246
[Fine structure of pineal gland in some Chiroptera. (Vesperugo savi and Rinolophus f.e.). I. Histochemical and ultrastructural study (author's transl)]. 61
7470186 1980
247
The effect of nitrofurantoin on deoxyribonucleic acid synthesis in plant mitochondria. 61
6989360 1980
248
A possible mechanism of ammonium ion regulation of photosynthetic carbon flow in higher plants. 61
16660945 1979
249
The effect of atractyloside and carboxyatractyloside on adenine nucleotide translocation in mitochondria of Vigna sinensis (L.) Savi cv. seridó. 61
464602 1979
250
Verbal communication in medical instruction. 61
625255 1978
251
[The presence of para-esophageal bodies in Nematophora Lysiopetalidae (Myriapoda, Diplopoda)]. 61
404052 1977
252
[Energy metabolism in 2 Crocidurinae: Suncus et ruscus (Savi, 1822) and Crocidura russula (Herman, 1780) (Insectivora, Soricidae)]. 61
976573 1976
253
[Mammals of France. XIV. Morphological data concerning the Etruscan shrew, Suncus etruscus (Savi, 1822)]. 61
1225678 1975
254
Organization and ultrastructure of mechanoreceptors (Savi vesicles) in the elasmobranch Torpedo. 61
4837706 1974
255
Protein synthesis in vitro in a system from plant mitochondria. 61
4749278 1973
256
The Coding Properties of Lysine-accepting Transfer Ribonucleic Acids from Black-eyed Peas. 61
16657787 1971
257
Effect of heat on seed transmission of mosaic disease of cowpea (Vigna sinensis Savi). 61
5115807 1971
258
[Sensory discharges obtained by mechanical stimulation of the Savi vesicle in Torpedo marmorata]. 61
13550137 1958
259
[Some data on the morphology of the sensory apparatus of Savi in Torpedo marmorata]. 61
13604873 1958
260
THE VESICLES OF SAVI. 61
17787825 1892

Variations for Sting-Associated Vasculopathy, Infantile-Onset

ClinVar genetic disease variations for Sting-Associated Vasculopathy, Infantile-Onset:

6 (showing 60, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STING1 NM_198282.4(STING1):c.842G>A (p.Arg281Gln)SNV Pathogenic 568703 rs1561482476 5:138857018-138857018 5:139477433-139477433
2 STING1 NM_198282.4(STING1):c.461A>G (p.Asn154Ser)SNV Pathogenic 143861 rs587777609 5:138860434-138860434 5:139480849-139480849
3 STING1 NM_198282.4(STING1):c.463G>A (p.Val155Met)SNV Pathogenic 143862 rs587777610 5:138860432-138860432 5:139480847-139480847
4 STING1 NM_198282.4(STING1):c.439G>C (p.Val147Leu)SNV Pathogenic 143863 rs587777611 5:138860456-138860456 5:139480871-139480871
5 STING1 NM_198282.4(STING1):c.289G>A (p.Ala97Thr)SNV Conflicting interpretations of pathogenicity 624065 rs181566154 5:138860866-138860866 5:139481281-139481281
6 STING1 NM_198282.4(STING1):c.575G>T (p.Gly192Val)SNV Conflicting interpretations of pathogenicity 475208 rs201096097 5:138858039-138858039 5:139478454-139478454
7 STING1 NM_198282.4(STING1):c.61G>A (p.Ala21Thr)SNV Conflicting interpretations of pathogenicity 541983 rs140011636 5:138861229-138861229 5:139481644-139481644
8 STING1 NM_198282.4(STING1):c.929G>A (p.Arg310His)SNV Uncertain significance 541980 rs144683867 5:138856931-138856931 5:139477346-139477346
9 STING1 NM_198282.4(STING1):c.757C>T (p.Arg253Trp)SNV Uncertain significance 541978 rs199795457 5:138857857-138857857 5:139478272-139478272
10 STING1 NM_198282.4(STING1):c.1127C>G (p.Thr376Arg)SNV Uncertain significance 565663 rs370381358 5:138855859-138855859 5:139476274-139476274
11 STING1 NM_198282.4(STING1):c.1123C>T (p.Arg375Cys)SNV Uncertain significance 579652 rs144606267 5:138855863-138855863 5:139476278-139476278
12 STING1 NM_198282.4(STING1):c.979C>A (p.Gln327Lys)SNV Uncertain significance 570027 rs201015563 5:138856007-138856007 5:139476422-139476422
13 STING1 NM_198282.4(STING1):c.952G>T (p.Ala318Ser)SNV Uncertain significance 581686 rs1561482019 5:138856034-138856034 5:139476449-139476449
14 STING1 NM_198282.4(STING1):c.532C>T (p.Arg178Trp)SNV Uncertain significance 475206 rs1240603758 5:138858082-138858082 5:139478497-139478497
15 STING1 NM_198282.4(STING1):c.548A>G (p.Asn183Ser)SNV Uncertain significance 475207 rs201277595 5:138858066-138858066 5:139478481-139478481
16 STING1 NM_198282.4(STING1):c.590G>A (p.Arg197Gln)SNV Uncertain significance 541979 rs760564156 5:138858024-138858024 5:139478439-139478439
17 STING1 NM_198282.4(STING1):c.1076A>G (p.Gln359Arg)SNV Uncertain significance 641434 5:138855910-138855910 5:139476325-139476325
18 STING1 NM_198282.4(STING1):c.1025del (p.Thr342fs)deletion Uncertain significance 639028 5:138855961-138855961 5:139476376-139476376
19 STING1 NM_198282.4(STING1):c.1000C>T (p.Arg334Trp)SNV Uncertain significance 657875 5:138855986-138855986 5:139476401-139476401
20 STING1 NM_198282.4(STING1):c.761C>T (p.Ala254Val)SNV Uncertain significance 658704 5:138857099-138857099 5:139477514-139477514
21 STING1 NM_198282.4(STING1):c.637A>C (p.Ser213Arg)SNV Uncertain significance 650270 5:138857977-138857977 5:139478392-139478392
22 STING1 NM_198282.4(STING1):c.602T>C (p.Leu201Pro)SNV Uncertain significance 643076 5:138858012-138858012 5:139478427-139478427
23 STING1 NM_198282.4(STING1):c.398T>A (p.Leu133His)SNV Uncertain significance 660314 5:138860757-138860757 5:139481172-139481172
24 STING1 NM_198282.4(STING1):c.395T>G (p.Ile132Ser)SNV Uncertain significance 649502 5:138860760-138860760 5:139481175-139481175
25 STING1 NM_198282.4(STING1):c.281G>A (p.Arg94His)SNV Uncertain significance 661503 5:138860874-138860874 5:139481289-139481289
26 STING1 NM_198282.4(STING1):c.49G>A (p.Gly17Arg)SNV Uncertain significance 654765 5:138861241-138861241 5:139481656-139481656
27 STING1 NM_198282.4(STING1):c.44dup (p.His16fs)duplication Uncertain significance 654580 5:138861245-138861246 5:139481660-139481661
28 STING1 NM_198282.4(STING1):c.32C>T (p.Pro11Leu)SNV Uncertain significance 646537 5:138861258-138861258 5:139481673-139481673
29 STING1 NM_198282.4(STING1):c.26C>T (p.Ser9Phe)SNV Uncertain significance 658773 5:138861264-138861264 5:139481679-139481679
30 STING1 NM_198282.4(STING1):c.7C>T (p.His3Tyr)SNV Uncertain significance 639483 5:138861283-138861283 5:139481698-139481698
31 STING1 NC_000005.10:g.(?_139476241)_(139481724_?)dupduplication Uncertain significance 833225 5:138855826-138861309
32 STING1 NM_198282.4(STING1):c.1127C>T (p.Thr376Met)SNV Uncertain significance 853954 5:138855859-138855859 5:139476274-139476274
33 STING1 NM_198282.4(STING1):c.1003C>A (p.Gln335Lys)SNV Uncertain significance 857410 5:138855983-138855983 5:139476398-139476398
34 STING1 NM_198282.4(STING1):c.1001G>A (p.Arg334Gln)SNV Uncertain significance 840257 5:138855985-138855985 5:139476400-139476400
35 STING1 NM_198282.4(STING1):c.841C>T (p.Arg281Trp)SNV Uncertain significance 839824 5:138857019-138857019 5:139477434-139477434
36 STING1 NM_198282.4(STING1):c.688G>A (p.Gly230Ser)SNV Uncertain significance 850236 5:138857926-138857926 5:139478341-139478341
37 STING1 NM_198282.4(STING1):c.668A>G (p.Asp223Gly)SNV Uncertain significance 852656 5:138857946-138857946 5:139478361-139478361
38 STING1 NM_198282.4(STING1):c.493A>C (p.Ile165Leu)SNV Uncertain significance 850268 5:138860402-138860402 5:139480817-139480817
39 STING1 NM_198282.4(STING1):c.344C>T (p.Pro115Leu)SNV Uncertain significance 839783 5:138860811-138860811 5:139481226-139481226
40 STING1 NM_198282.4(STING1):c.134G>A (p.Arg45Gln)SNV Uncertain significance 851661 5:138861156-138861156 5:139481571-139481571
41 STING1 NM_198282.4(STING1):c.92T>C (p.Val31Ala)SNV Uncertain significance 834249 5:138861198-138861198 5:139481613-139481613
42 STING1 NC_000005.10:g.139477511_139477515deldeletion Uncertain significance 842085
43 STING1 NM_198282.4(STING1):c.1139G>A (p.Ter380=)SNV Likely benign 750205 5:138855847-138855847 5:139476262-139476262
44 STING1 NM_198282.4(STING1):c.462C>T (p.Asn154=)SNV Likely benign 745316 5:138860433-138860433 5:139480848-139480848
45 STING1 NM_198282.4(STING1):c.380C>T (p.Ser127Leu)SNV Likely benign 746622 5:138860775-138860775 5:139481190-139481190
46 STING1 NM_198282.4(STING1):c.495C>T (p.Ile165=)SNV Likely benign 753265 5:138860400-138860400 5:139480815-139480815
47 STING1 NM_198282.4(STING1):c.174_175delinsTT (p.Leu58_Leu59=)indel Likely benign 755874 5:138861115-138861116 5:139481530-139481531
48 STING1 NM_198282.4(STING1):c.726C>T (p.Asn242=)SNV Likely benign 798822 5:138857888-138857888 5:139478303-139478303
49 STING1 NM_198282.4(STING1):c.760-9C>ASNV Likely benign 541982 rs200232916 5:138857109-138857109 5:139477524-139477524
50 STING1 NM_198282.4(STING1):c.340G>A (p.Gly114Ser)SNV Likely benign 712331 5:138860815-138860815 5:139481230-139481230
51 STING1 NM_198282.4(STING1):c.762G>A (p.Ala254=)SNV Benign 721671 5:138857098-138857098 5:139477513-139477513
52 STING1 NM_198282.4(STING1):c.695A>G (p.His232Arg)SNV Benign 403550 rs1131769 5:138857919-138857919 5:139478334-139478334
53 STING1 NM_198282.4(STING1):c.33G>A (p.Pro11=)SNV Benign 541981 rs149842998 5:138861257-138861257 5:139481672-139481672
54 STING1 NM_198282.4(STING1):c.376C>A (p.Leu126Ile)SNV Benign 475205 rs142609349 5:138860779-138860779 5:139481194-139481194
55 STING1 NM_198282.4(STING1):c.937G>A (p.Ala313Thr)SNV Benign 475211 rs140837017 5:138856923-138856923 5:139477338-139477338
56 STING1 NM_198282.4(STING1):c.659G>A (p.Arg220His)SNV Benign 475210 rs144010323 5:138857955-138857955 5:139478370-139478370
57 STING1 NM_198282.4(STING1):c.580G>T (p.Val194Leu)SNV Benign 475209 rs114834699 5:138858034-138858034 5:139478449-139478449
58 STING1 NM_198282.4(STING1):c.1124G>T (p.Arg375Leu)SNV Benign 719130 5:138855862-138855862 5:139476277-139476277
59 STING1 NM_198282.4(STING1):c.510G>C (p.Leu170=)SNV Benign 710804 5:138860385-138860385 5:139480800-139480800
60 STING1 NM_198282.4(STING1):c.348C>G (p.Pro116=)SNV Benign 716347 5:138860807-138860807 5:139481222-139481222

UniProtKB/Swiss-Prot genetic disease variations for Sting-Associated Vasculopathy, Infantile-Onset:

73 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 STING1 p.Val147Leu VAR_071878 rs587777611
2 STING1 p.Asn154Ser VAR_071879 rs587777609
3 STING1 p.Val155Met VAR_071880 rs587777610

Expression for Sting-Associated Vasculopathy, Infantile-Onset

Search GEO for disease gene expression data for Sting-Associated Vasculopathy, Infantile-Onset.

Pathways for Sting-Associated Vasculopathy, Infantile-Onset

GO Terms for Sting-Associated Vasculopathy, Infantile-Onset

Sources for Sting-Associated Vasculopathy, Infantile-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....