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:

(show all 28)
# 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 (show all 22)
# 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 interferons
2 Interferon-alpha

Interventional clinical trials:

(show all 13)
# 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:

(show top 50) (show all 260)
# 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

Variations for Sting-Associated Vasculopathy, Infantile-Onset

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

6 (show top 50) (show all 60) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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

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

73
# 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
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