SAVI
MCID: STN011
MIFTS: 45

Sting-Associated Vasculopathy with Onset in Infancy (SAVI)

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

Aliases & Classifications for Sting-Associated Vasculopathy with Onset in Infancy

MalaCards integrated aliases for Sting-Associated Vasculopathy with Onset in Infancy:

Name: Sting-Associated Vasculopathy with Onset in Infancy 12 52 25 36 15
Savi 12 52 25
Sting-Associated Vasculopathy, Infantile-Onset 71
Sting-Associated Vasculopathy, Infantile Onset 25

Classifications:



External Ids:

Disease Ontology 12 DOID:0111457
KEGG 36 H01746
UMLS 71 C4014722

Summaries for Sting-Associated Vasculopathy with Onset in Infancy

Genetics Home Reference : 25 STING-associated vasculopathy with onset in infancy (SAVI) is a disorder involving abnormal inflammation throughout the body, especially in the skin, blood vessels, and lungs. Inflammation normally occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and help with tissue repair. Excessive inflammation damages the body's own cells and tissues. Disorders such as SAVI that result from abnormally increased inflammation are known as autoinflammatory diseases. The signs and symptoms of SAVI begin in the first few months of life, and most are related to problems with blood vessels (vasculopathy) and damage to the tissues that rely on these vessels for their blood supply. Affected infants develop areas of severely damaged skin (lesions), particularly on the face, ears, nose, fingers, and toes. These lesions begin as rashes and can progress to become wounds (ulcers) and dead tissue (necrosis). The skin problems, which worsen in cold weather, can lead to complications such as scarred ears, a hole in the tissue that separates the two nostrils (nasal septum perforation), or fingers or toes that require amputation. Individuals with SAVI also have a purplish skin discoloration (livedo reticularis) caused by abnormalities in the tiny blood vessels of the skin. Affected individuals may also experience episodes of Raynaud phenomenon, in which the fingers and toes turn white or blue in response to cold temperature or other stresses. This effect occurs because of problems with the small vessels that carry blood to the extremities. In addition to problems affecting the skin, people with SAVI have recurrent low-grade fevers and swollen lymph nodes. They may also develop widespread lung damage (interstitial lung disease) that can lead to the formation of scar tissue in the lungs (pulmonary fibrosis) and difficulty breathing; these respiratory complications can become life-threatening. Rarely, muscle inflammation (myositis) and joint stiffness also occur.

MalaCards based summary : Sting-Associated Vasculopathy with Onset in Infancy, also known as savi, is related to singleton-merten syndrome and sting-associated vasculopathy, infantile-onset, and has symptoms including fever and onychomadesis. An important gene associated with Sting-Associated Vasculopathy with Onset in Infancy is STING1 (Stimulator Of Interferon Response CGAMP Interactor 1), and among its related pathways/superpathways are NOD-like receptor signaling pathway and RIG-I-like receptor signaling pathway. 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 hematopoietic system and cellular

Disease Ontology : 12 An autoimmune disease of the cardiovascular system characterized by onset in infancy of 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 that has material basis in heterozygous gain of function mutation in TMEM173 on chromosome 5q31.

KEGG : 36 STING (stimulator of interferon genes)-associated basculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding the STING protein. It is considered that the mutations in the TMEM173 gene confer constitutive activation of STING and hypersensitivity to ligand stimulation, resulting in chronic activation of the STING-interferon pathway. Patients with SAVI have severe neonatal-onset small vessel vasculitis, which is expressed by telangiectatic ulcerative rashes in the limbs, earlobes, or nose, leading to microangiopathic thrombosis, vessel occlusion, and even risk of gangrene. Some SAVI patients may present chronic interstitial lung disease, which can be severe and lethal.

Wikipedia : 74 STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy... more...

Related Diseases for Sting-Associated Vasculopathy with Onset in Infancy

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

Sting-Associated Vasculopathy with Onset in Infancy

Diseases related to Sting-Associated Vasculopathy with Onset in Infancy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 singleton-merten syndrome 32.4 IFIH1 DDX58
2 sting-associated vasculopathy, infantile-onset 12.5
3 interstitial lung disease 10.5
4 lung disease 10.4
5 exanthem 10.3
6 vasculitis 10.3
7 oropouche fever 10.2 MAVS IRF3
8 pulmonary fibrosis 10.2
9 prolidase deficiency 10.2 RNASEH2C RNASEH2B RNASEH2A
10 autoimmune disease 10.1
11 gastroesophageal reflux 10.1
12 myositis 10.1
13 systemic lupus erythematosus 2 10.1
14 pulmonary hypertension 10.1
15 focal segmental glomerulosclerosis 10.1
16 lymphopenia 10.1
17 severe combined immunodeficiency 10.1
18 splenomegaly 10.1
19 diffuse alveolar hemorrhage 10.1
20 middle east respiratory syndrome 10.1 IRF3 IFNB1 IFIH1
21 migraine with or without aura 1 10.1
22 dowling-degos disease 1 10.1
23 helicobacter pylori infection 10.1
24 respiratory failure 10.1
25 diphtheria 10.1
26 telangiectasis 10.1
27 cholera 10.1
28 fibrosarcoma 10.1
29 breast disease 10.1
30 lupus erythematosus 10.1
31 headache 10.1
32 familial chilblain lupus 10.1 STING1 SAMHD1
33 human t-cell leukemia virus type 2 10.0 STAT1 ADAR
34 lassa fever 10.0 IRF3 IFIH1 DDX58
35 west nile virus 10.0 IRF3 IFIH1 DDX58
36 newcastle disease 9.9 IRF3 IFNB1 DDX58
37 dengue hemorrhagic fever 9.9 STAT1 IFNB1 IFNAR1
38 yellow fever 9.9 STAT1 IFNB1 IFNAR1
39 croup 9.8 IFIH1 DDX58
40 herpangina 9.8 IRF3 IFNB1 IFIH1 DDX58
41 coronavirus infectious disease 9.8 IRF3 IFNB1 IFIH1 DDX58
42 vaccinia 9.8 STAT1 MAVS IRF3 IFNB1
43 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 9.8 RNASEH2C RNASEH2B ADA2
44 dyschromatosis symmetrica hereditaria 9.8 RNASEH2C RNASEH2B RNASEH2A MAVS ADAR
45 rabies 9.7 STAT1 IRF3 DDX58
46 lymphocytic choriomeningitis 9.7 MAVS IRF3 DDX58 ADAR
47 stomatitis 9.7 IFNB1 DDX58 ADAR
48 encephalitis 9.6 STAT1 IRF3 IFNB1 DDX58
49 leukodystrophy 9.6 SAMHD1 RNASEH2C RNASEH2B RNASEH2A ADAR
50 mouth disease 9.5 STAT1 JAK1 IRF3 IFIH1 DDX58

Graphical network of the top 20 diseases related to Sting-Associated Vasculopathy with Onset in Infancy:



Diseases related to Sting-Associated Vasculopathy with Onset in Infancy

Symptoms & Phenotypes for Sting-Associated Vasculopathy with Onset in Infancy

UMLS symptoms related to Sting-Associated Vasculopathy with Onset in Infancy:


fever, onychomadesis

MGI Mouse Phenotypes related to Sting-Associated Vasculopathy with Onset in Infancy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.24 ADAR CGAS DDX58 IFIH1 IFNAR1 IFNB1
2 cellular MP:0005384 10.21 ADAR DDX58 IFIH1 IFNAR1 IRF3 RNASEH2A
3 homeostasis/metabolism MP:0005376 10.2 ADAR CGAS DDX58 IFIH1 IFNAR1 IFNB1
4 growth/size/body region MP:0005378 10.18 ADAR DDX58 IFIH1 IFNAR1 JAK1 RNASEH2A
5 immune system MP:0005387 10.16 ADAR CGAS DDX58 IFIH1 IFNAR1 IFNB1
6 integument MP:0010771 9.85 ADAR IFIH1 IFNAR1 JAK1 MAVS RNASEH2A
7 liver/biliary system MP:0005370 9.56 ADAR DDX58 IFIH1 IFNAR1 JAK1 RNASEH2B
8 mortality/aging MP:0010768 9.5 ADAR CGAS DDX58 IFIH1 IFNAR1 JAK1

Drugs & Therapeutics for Sting-Associated Vasculopathy with Onset in Infancy

Drugs for Sting-Associated Vasculopathy with Onset in Infancy (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 with Onset in Infancy

Genetic Tests for Sting-Associated Vasculopathy with Onset in Infancy

Anatomical Context for Sting-Associated Vasculopathy with Onset in Infancy

MalaCards organs/tissues related to Sting-Associated Vasculopathy with Onset in Infancy:

40
Lung, Skin, Breast, Lymph Node, Heart, Bone, Liver

Publications for Sting-Associated Vasculopathy with Onset in Infancy

Articles related to Sting-Associated Vasculopathy with Onset in Infancy:

(show top 50) (show all 266)
# Title Authors PMID Year
1
Using Landsat satellites to assess the impact of check dams built across erosive gullies on vegetation rehabilitation. 61
32388364 2020
2
A comparison of two non-radioactive alternatives to wire for the localization of non-palpable breast cancers. 61
32451679 2020
3
Adapting CHMTRN (CHeMistry TRaNslator) for a New Use. 61
32539385 2020
4
Diversity of repetitive sequences within compact genomes of Phaseolus L. beans and allied genera Cajanus L. and Vigna Savi. 61
31734754 2020
5
STING Gain-of-Function Disrupts Lymph Node Organogenesis and Innate Lymphoid Cell Development in Mice. 61
32553167 2020
6
Estimating reed loss caused by Locusta migratoria manilensis using UAV-based hyperspectral data. 61
32120114 2020
7
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
8
Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype. 61
32398023 2020
9
Dosimetric Limitations in Treating Breast Cancer with Accelerated Partial Breast Irradiation Using Strut Adjusted Volume Implant (SAVI). 61
32377476 2020
10
Expression of interferon-regulated genes in juvenile dermatomyositis versus Mendelian autoinflammatory interferonopathies. 61
32252809 2020
11
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
12
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases. 61
31874111 2020
13
Comparison of wire localization, radioactive seed, and Savi scout® radar for management of surgical breast disease. 61
31448530 2020
14
Baricitinib experience on STING-associated vasculopathy with onset in infancy: A representative case from Turkey. 61
31626957 2020
15
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
16
Permanent pacemaker lead insertion connected to an external pacemaker generator for temporary pacing after transcatheter aortic valve implantation. 61
32171678 2020
17
Association between residential greenness and metabolic syndrome in Chinese adults. 61
31837524 2020
18
Greenness around schools associated with lower risk of hypertension among children: Findings from the Seven Northeastern Cities Study in China. 61
31672364 2020
19
So Close and Yet So Irritating: Negative Relations and Implications for Well-being by Age and Closeness. 61
29596623 2020
20
Evaluating uncertainty in Landsat-derived postfire recovery metrics due to terrain, soil, and shrub type variations in southern California. 61
32076393 2020
21
Predicting grain protein content of field-grown winter wheat with satellite images and partial least square algorithm. 61
32160185 2020
22
Etiologic spectrum of interstitial lung diseases in Chinese children older than 2 years of age. 61
31969166 2020
23
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib. 61
31705453 2020
24
Inter-fractional variations in the dosimetric parameters of accelerated partial breast irradiation using a strut-adjusted volume implant. 61
31665490 2020
25
What's new in autoinflammation? 61
30552566 2019
26
The Challenge of Diagnosing SAVI: Case Studies. 61
32140288 2019
27
(Q)SAR Models of HIV-1 Protein Inhibition by Drug-Like Compounds. 61
31881687 2019
28
Associations of Residential Greenness with Diabetes Mellitus in Chinese Uyghur Adults. 61
31888136 2019
29
Maize Crop Coefficient Estimated from UAV-Measured Multispectral Vegetation Indices. 61
31795309 2019
30
The GA-BPNN-Based Evaluation of Cultivated Land Quality in the PSR Framework Using Gaofen-1 Satellite Data. 61
31771107 2019
31
Meta-analysis of Temporal and Surgical Risk Dependent Associations With Outcomes After Transcatheter Versus Surgical Aortic Valve Implantation. 61
31521258 2019
32
Spatial and temporal variation of the vegetation of the semiarid Puna in a pastoral system in the Pozuelos Biosphere Reserve. 61
31522254 2019
33
SAVI SCOUT as a Novel Localization and Surgical Navigation System for More Accurate Localization and Resection of Pulmonary Nodules. 61
31027475 2019
34
Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome. 61
31144250 2019
35
Residential greenness and blood lipids in urban-dwelling adults: The 33 Communities Chinese Health Study. 61
30981931 2019
36
First Egyptian patient with STING-associated vasculopathy with onset in infancy. 61
30794020 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
Diagnostic utility of a targeted next-generation sequencing gene panel in the clinical suspicion of systemic autoinflammatory diseases: a multi-center study. 61
30783801 2019
41
Community greenness, blood pressure, and hypertension in urban dwellers: The 33 Communities Chinese Health Study. 61
30878868 2019
42
Hierarchy of clinical manifestations in SAVI N153S and V154M mouse models. 61
30944222 2019
43
Trajectories of Perceived Workplace Age Discrimination and Long-Term Associations With Mental, Self-Rated, and Occupational Health. 61
28977664 2019
44
A comparison of satellite-based indices for hazard assessment of MSW open dumps using spatial analysis. 61
30537910 2019
45
Associations of greenness with diabetes mellitus and glucose-homeostasis markers: The 33 Communities Chinese Health Study. 61
30545606 2019
46
STING palmitoylation as a therapeutic target. 61
30796349 2019
47
Severe combined immunodeficiency in stimulator of interferon genes (STING) V154M/wild-type mice. 61
29800647 2019
48
A Human Gain-of-Function STING Mutation Causes Immunodeficiency and Gammaherpesvirus-Induced Pulmonary Fibrosis in Mice. 61
30463976 2019
49
[Discovering new antiretroviral compounds in "Big Data" chemical space of the SAVI library]. 61
30950810 2019
50
Response of plant production to growing/non-growing season asymmetric warming in an alpine meadow of the Northern Tibetan Plateau. 61
30296774 2019

Variations for Sting-Associated Vasculopathy with Onset in Infancy

Expression for Sting-Associated Vasculopathy with Onset in Infancy

Search GEO for disease gene expression data for Sting-Associated Vasculopathy with Onset in Infancy.

Pathways for Sting-Associated Vasculopathy with Onset in Infancy

Pathways related to Sting-Associated Vasculopathy with Onset in Infancy according to KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621
2 RIG-I-like receptor signaling pathway hsa04622
3 Cytosolic DNA-sensing pathway hsa04623

Pathways related to Sting-Associated Vasculopathy with Onset in Infancy according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.96 TBK1 STING1 STAT1 SAMHD1 MAVS JAK1
2
Show member pathways
13.29 STAT1 SAMHD1 JAK1 IRF3 IFNB1 IFNAR1
3
Show member pathways
12.99 TBK1 STAT1 MAVS JAK1 IRF3 IFNB1
4
Show member pathways
12.91 TBK1 STING1 STAT1 SAMHD1 JAK1 IRF3
5
Show member pathways
12.9 TBK1 STAT1 JAK1 IRF3 IFNB1 IFNAR1
6
Show member pathways
12.77 TBK1 STAT1 MAVS JAK1 IRF3 IFNB1
7 12.57 TBK1 STAT1 MAVS JAK1 IRF3 IFIH1
8
Show member pathways
12.52 TBK1 STING1 MAVS IRF3 IFNB1 IFIH1
9
Show member pathways
12.48 TBK1 STING1 MAVS IRF3 IFNB1 IFIH1
10
Show member pathways
12.4 STAT1 SAMHD1 JAK1 IRF3 IFNB1 IFNAR1
11 12.39 TBK1 STING1 STAT1 MAVS JAK1 IRF3
12 12.33 TBK1 STING1 IRF3 IFNB1 CGAS
13
Show member pathways
12.32 STAT1 JAK1 IFNB1 IFNAR1
14
Show member pathways
12.24 STAT1 SAMHD1 JAK1 IRF3 IFNB1 IFNAR1
15
Show member pathways
12.12 STAT1 JAK1 IFNB1 IFNAR1
16 12.02 TBK1 STING1 STAT1 MAVS JAK1 IRF3
17 11.97 STAT1 JAK1 IFNB1 IFNAR1
18 11.87 TBK1 IRF3 IFNB1
19 11.8 STAT1 JAK1 IFNB1 IFNAR1
20 11.51 STAT1 JAK1 IFNAR1
21 11.32 STAT1 JAK1 IFNB1
22 11.31 MAVS IFIH1 DDX58
23 10.89 STAT1 JAK1
24 10.81 IFNB1 IFNAR1
25
Show member pathways
10.53 STAT1 MAVS JAK1 IRF3 IFNAR1 DDX58

GO Terms for Sting-Associated Vasculopathy with Onset in Infancy

Cellular components related to Sting-Associated Vasculopathy with Onset in Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ribonuclease H2 complex GO:0032299 8.8 RNASEH2C RNASEH2B RNASEH2A

Biological processes related to Sting-Associated Vasculopathy with Onset in Infancy according to GeneCards Suite gene sharing:

(show all 42)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.2 TBK1 STING1 STAT1 MAVS IRF3 IFNB1
2 immune system process GO:0002376 10.19 TBK1 STING1 SAMHD1 MAVS IRF3 IFIT1
3 innate immune response GO:0045087 10.1 TBK1 STING1 SAMHD1 MAVS IRF3 IFIT1
4 viral process GO:0016032 10.07 TBK1 STING1 STAT1 SAMHD1 MAVS IRF3
5 cytokine-mediated signaling pathway GO:0019221 9.98 STAT1 JAK1 IFNB1 IFNAR1
6 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.95 WLS TBK1 MAVS IRF3
7 negative regulation of type I interferon production GO:0032480 9.88 TBK1 MAVS IRF3 IFIH1 DDX58
8 positive regulation of type I interferon production GO:0032481 9.87 TBK1 STING1 IRF3 CGAS
9 response to virus GO:0009615 9.87 TBK1 IFNB1 IFNAR1 IFIT1 IFIH1 DDX58
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.86 STING1 MAVS DDX58
11 positive regulation of defense response to virus by host GO:0002230 9.85 STING1 STAT1 MAVS DDX58 CGAS
12 interferon-gamma-mediated signaling pathway GO:0060333 9.84 STAT1 JAK1 IRF3
13 activation of innate immune response GO:0002218 9.83 TBK1 STING1 MAVS CGAS
14 positive regulation of interferon-beta production GO:0032728 9.83 TBK1 MAVS IRF3 IFIH1 DDX58
15 positive regulation of interleukin-6 secretion GO:2000778 9.81 MAVS IFIH1 DDX58
16 negative regulation of viral genome replication GO:0045071 9.81 MAVS IFNB1 IFIT1
17 regulation of type I interferon production GO:0032479 9.81 TBK1 STING1 IRF3 CGAS
18 response to exogenous dsRNA GO:0043330 9.79 IRF3 IFNB1 DDX58
19 RNA catabolic process GO:0006401 9.79 RNASEH2C RNASEH2B RNASEH2A
20 positive regulation of tumor necrosis factor secretion GO:1904469 9.77 MAVS IFIH1 DDX58
21 cellular response to interferon-beta GO:0035458 9.76 STING1 STAT1 IFNB1
22 type I interferon signaling pathway GO:0060337 9.76 STAT1 SAMHD1 JAK1 IRF3 IFNB1 IFNAR1
23 positive regulation of type I interferon-mediated signaling pathway GO:0060340 9.75 TBK1 MAVS IRF3
24 positive regulation of interferon-alpha secretion GO:1902741 9.73 MAVS IFIH1 DDX58
25 positive regulation of interferon-alpha production GO:0032727 9.73 TBK1 STAT1 MAVS IRF3 IFIH1 DDX58
26 positive regulation of response to cytokine stimulus GO:0060760 9.72 MAVS IFIH1 DDX58
27 positive regulation of interferon-beta secretion GO:0035549 9.71 MAVS IFIH1 DDX58
28 interleukin-6-mediated signaling pathway GO:0070102 9.68 STAT1 JAK1
29 negative regulation of type I interferon-mediated signaling pathway GO:0060339 9.68 SAMHD1 ADAR
30 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.68 STAT1 JAK1
31 interleukin-35-mediated signaling pathway GO:0070757 9.67 STAT1 JAK1
32 interleukin-27-mediated signaling pathway GO:0070106 9.67 STAT1 JAK1
33 interleukin-9-mediated signaling pathway GO:0038113 9.66 STAT1 JAK1
34 interleukin-21-mediated signaling pathway GO:0038114 9.65 STAT1 JAK1
35 detection of virus GO:0009597 9.65 IFIH1 DDX58
36 positive regulation of myeloid dendritic cell cytokine production GO:0002735 9.64 MAVS DDX58
37 regulation of cellular metabolic process GO:0031323 9.63 TBK1 STING1
38 MDA-5 signaling pathway GO:0039530 9.62 IRF3 IFIH1
39 cytoplasmic pattern recognition receptor signaling pathway in response to virus GO:0039528 9.61 IFIH1 DDX58
40 regulation of type III interferon production GO:0034344 9.6 IFIH1 DDX58
41 cellular response to exogenous dsRNA GO:0071360 9.56 STING1 MAVS IRF3 IFNB1 IFIT1 IFIH1
42 defense response to virus GO:0051607 9.4 TBK1 STING1 STAT1 SAMHD1 MAVS IRF3

Molecular functions related to Sting-Associated Vasculopathy with Onset in Infancy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.8 TBK1 STING1 STAT1 SAMHD1 IRF3 IFIH1
2 RNA-DNA hybrid ribonuclease activity GO:0004523 9.32 RNASEH2B RNASEH2A
3 adenosine deaminase activity GO:0004000 9.16 ADAR ADA2
4 double-stranded RNA binding GO:0003725 9.13 IFIH1 DDX58 ADAR
5 CCR5 chemokine receptor binding GO:0031730 8.62 STAT1 JAK1

Sources for Sting-Associated Vasculopathy with Onset in Infancy

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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