MCID: FML333
MIFTS: 36

Familial Behcet-Like Autoinflammatory Syndrome

Categories: Genetic diseases, Immune diseases, Oral diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Familial Behcet-Like Autoinflammatory Syndrome

MalaCards integrated aliases for Familial Behcet-Like Autoinflammatory Syndrome:

Name: Familial Behcet-Like Autoinflammatory Syndrome 11 14 16
Autoinflammatory Syndrome, Familial, Behcet-Like 28 5 38
A20 Haploinsufficiency 11

Classifications:



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Disease Ontology 11 DOID:0080944

Summaries for Familial Behcet-Like Autoinflammatory Syndrome

Disease Ontology: 11 A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has material basis in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.

MalaCards based summary: Familial Behcet-Like Autoinflammatory Syndrome, also known as autoinflammatory syndrome, familial, behcet-like, is related to aphthous stomatitis and pericarditis. An important gene associated with Familial Behcet-Like Autoinflammatory Syndrome is TNFAIP3 (TNF Alpha Induced Protein 3), and among its related pathways/superpathways are p75 NTR receptor-mediated signalling and NF-KappaB Family Pathway. Related phenotypes are homeostasis/metabolism and cellular

Related Diseases for Familial Behcet-Like Autoinflammatory Syndrome

Diseases in the Familial Behcet-Like Autoinflammatory Syndrome family:

Autoinflammatory Syndrome, Familial, Behcet-Like 1

Diseases related to Familial Behcet-Like Autoinflammatory Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 113)
# Related Disease Score Top Affiliating Genes
1 aphthous stomatitis 29.6 TNFAIP3 TNF MEFV IL12RB2
2 pericarditis 29.6 TNFRSF1A TNF MEFV
3 familial mediterranean fever 29.0 TNFRSF1A TNF PSTPIP1 MEFV
4 behcet syndrome 28.6 TNFRSF1A TNFAIP3 TNF PSTPIP1 OTULIN MEFV
5 autoinflammatory syndrome, familial, x-linked, behcet-like 2 11.4
6 autoinflammatory syndrome, familial, behcet-like 1 11.4
7 immunodeficiency 57 with autoinflammation 10.2 ZNF7 OTULIN
8 autoimmune disease 10.2
9 juvenile rheumatoid arthritis 10.2
10 immunodeficiency 33 10.2 OTULIN IKBKG
11 autoinflammatory syndrome 10.2
12 intermittent hydrarthrosis 10.1 TNFRSF1A MEFV
13 toxicodendron dermatitis 10.1 TNF IKBKG
14 uveitis 10.1
15 hypothyroidism 10.1
16 folliculitis 10.1
17 thyroiditis 10.1
18 impetigo herpetiformis 10.1 CARD14 AP1S3
19 juvenile ankylosing spondylitis 10.1 TNF LACC1
20 iridocyclitis 10.1 TNFAIP3 TNF
21 geographic tongue 10.1 CARD14 AP1S3
22 psoriasis 15 10.0 CARD14 AP1S3
23 atrophic glossitis 10.0 CARD14 AP1S3
24 psoriasis 2 10.0 CARD14 AP1S3
25 familial cold autoinflammatory syndrome 1 10.0 TNFRSF1A MEFV
26 pustular psoriasis 10.0 TNF AP1S3
27 chromophil adenoma of the kidney 10.0 TNFRSF1A TNF
28 autoimmune disease of cardiovascular system 10.0 TNFAIP3 TNF MEFV
29 serum amyloid a amyloidosis 10.0 TNF MEFV
30 proteasome-associated autoinflammatory syndrome 1 10.0 TNFAIP3 TNF MEFV
31 immunodeficiency 31a 10.0 WDR1 LACC1 AP1S3
32 immunodeficiency 31c 10.0 WDR1 LACC1 AP1S3
33 scleritis 10.0 TNFAIP3 TNF
34 ectodermal dysplasia 1, hypohidrotic, x-linked 10.0 TNF IKBKG
35 takayasu arteritis 10.0 TNFAIP3 TNF IL12RB2
36 acrodermatitis 10.0 CARD14 AP1S3
37 schnitzler syndrome 9.9 NLRP12 MEFV
38 spondylarthropathy 9.9 TNFRSF1A TNF
39 hashimoto thyroiditis 9.9
40 systemic lupus erythematosus 9.9
41 pernicious anemia 9.9
42 vitiligo-associated multiple autoimmune disease susceptibility 6 9.9
43 immune deficiency disease 9.9
44 sjogren syndrome 9.9
45 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
46 vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome 9.9
47 deficiency anemia 9.9
48 exanthem 9.9
49 visceral heterotaxy 9.9
50 combined immunodeficiency 9.9

Graphical network of the top 20 diseases related to Familial Behcet-Like Autoinflammatory Syndrome:



Diseases related to Familial Behcet-Like Autoinflammatory Syndrome

Symptoms & Phenotypes for Familial Behcet-Like Autoinflammatory Syndrome

MGI Mouse Phenotypes related to Familial Behcet-Like Autoinflammatory Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 IKBKG IL12RB2 LACC1 MEFV NLRP12 OTULIN
2 cellular MP:0005384 9.96 CARD14 IKBKG LACC1 MEFV NLRP12 OTULIN
3 immune system MP:0005387 9.93 CARD14 IKBKG IL12RB2 LACC1 MEFV NLRP12
4 liver/biliary system MP:0005370 9.91 IKBKG IL12RB2 MEFV PSTPIP1 TNF TNFAIP3
5 neoplasm MP:0002006 9.88 IKBKG IL12RB2 NLRP12 OTULIN TNF TNFRSF1A
6 hematopoietic system MP:0005397 9.77 CARD14 IKBKG IL12RB2 LACC1 MEFV NLRP12
7 integument MP:0010771 9.28 CARD14 IKBKG MEFV OTULIN TNF TNFAIP3

Drugs & Therapeutics for Familial Behcet-Like Autoinflammatory Syndrome

Search Clinical Trials, NIH Clinical Center for Familial Behcet-Like Autoinflammatory Syndrome

Genetic Tests for Familial Behcet-Like Autoinflammatory Syndrome

Genetic tests related to Familial Behcet-Like Autoinflammatory Syndrome:

# Genetic test Affiliating Genes
1 Autoinflammatory Syndrome, Familial, Behcet-Like 28

Anatomical Context for Familial Behcet-Like Autoinflammatory Syndrome

Publications for Familial Behcet-Like Autoinflammatory Syndrome

Articles related to Familial Behcet-Like Autoinflammatory Syndrome:

(show all 42)
# Title Authors PMID Year
1
A20 Haploinsufficiency Presenting with a Combined Immunodeficiency. 62 5
32666380 2020
2
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. 62 5
26642243 2016
3
Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Beh├žet-Like Phenotype and Persistent EBV Viremia. 5
30810840 2019
4
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. 5
29241730 2018
5
A case of A20 haploinsufficiency in which intestinal inflammation improved with thalidomide. 62
36367251 2022
6
An adult case of suspected A20 haploinsufficiency mimicking polyarteritis nodosa. 62
35595232 2022
7
TNFAIP3 mutation causing haploinsufficiency of A20 with a hemophagocytic lymphohistiocytosis phenotype: a report of two cases. 62
36064566 2022
8
The Expanding Spectrum of Autoinflammatory Diseases. 62
35314554 2022
9
Case Report: An early-onset inflammatory colitis due to a variant in TNFAIP3 causing A20 haploinsufficiency. 62
36467491 2022
10
Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience. 62
36211342 2022
11
Three Chinese pedigrees of A20 haploinsufficiency: clinical, cytokine and molecular characterization. 62
35958611 2022
12
Analysis of five cases of monogenic lupus related to primary immunodeficiency diseases. 62
34559261 2021
13
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment. 62
31977656 2021
14
Hematopoietic Cell Transplantation Ameliorates Autoinflammation in A20 Haploinsufficiency. 62
34427832 2021
15
Chronic hepatic involvement in the clinical spectrum of A20 haploinsufficiency. 62
33966343 2021
16
Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report. 62
34011076 2021
17
Clinical characteristics and genetic analysis of A20 haploinsufficiency. 62
34030699 2021
18
Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation. 62
33971891 2021
19
Functional analysis of novel A20 variants in patients with atypical inflammatory diseases. 62
33549127 2021
20
Primary Immunodeficiency Disease Mimicking Pediatric Bechet's Disease. 62
33499153 2021
21
Spectrum of Systemic Auto-Inflammatory Diseases in India: A Multi-Centric Experience. 62
33815380 2021
22
Pathergy Phenomenon. 62
34113630 2021
23
A20 Haploinsufficiency in East Asia. 62
34899744 2021
24
Novel TNFAIP3 microdeletion in a girl with infantile-onset inflammatory bowel disease complicated by a severe perianal lesion. 62
33446651 2021
25
The First Case of an Infant with Familial A20 Haploinsufficiency in Korea. 62
32743991 2020
26
Immunophenotyping of A20 haploinsufficiency by multicolor flow cytometry. 62
32335289 2020
27
[Clinical phenotype and immunological features of a patient with A20 haploinsufficiency]. 62
32135594 2020
28
A20 Haploinsufficiency in a Chinese Patient With Intestinal Behcet's Disease-Like Symptoms: A Case Report. 62
32719680 2020
29
[A report of clinical characteristics of 2 Chinese pedigrees with haploinsufficiency of A20 and literature review]. 62
31795558 2019
30
New data in causes of autoinflammatory diseases. 62
30471422 2019
31
Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report. 62
31299923 2019
32
'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease'. 62
29549169 2019
33
Response to: 'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease' by Aeschlimann et al. 62
29574415 2019
34
Autosomal dominant Hashimoto's thyroiditis with a mutation in TNFAIP3. 62
31384100 2019
35
Large deletion in 6q associated to A20 haploinsufficiency and thoracoabdominal heterotaxy. 62
29678940 2018
36
Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement. 62
29916847 2018
37
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6. 62
29572183 2018
38
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. 62
29317407 2018
39
An Update on Autoinflammatory Diseases: Relopathies. 62
29846841 2018
40
Vasculitis in Systemic Autoinflammatory Diseases. 62
30560109 2018
41
Haploinsufficiency of TNFAIP3 (A20) by germline mutation is involved in autoimmune lymphoproliferative syndrome. 62
27845235 2017
42
A20 Haploinsufficiency Aggravates Transplant Arteriosclerosis in Mouse Vascular Allografts: Implications for Clinical Transplantation. 62
27495763 2016

Variations for Familial Behcet-Like Autoinflammatory Syndrome

ClinVar genetic disease variations for Familial Behcet-Like Autoinflammatory Syndrome:

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFAIP3 NM_001270508.2(TNFAIP3):c.801del (p.Pro268fs) DEL Pathogenic
219113 rs864321685 GRCh37: 6:138197297-138197297
GRCh38: 6:137876160-137876160
2 TNFAIP3 NM_001270508.2(TNFAIP3):c.680T>A (p.Leu227Ter) SNV Pathogenic
219108 rs864321625 GRCh37: 6:138197178-138197178
GRCh38: 6:137876041-137876041
3 TNFAIP3 NM_001270508.2(TNFAIP3):c.671del (p.Phe224fs) DEL Pathogenic
219109 rs864321682 GRCh37: 6:138197167-138197167
GRCh38: 6:137876030-137876030
4 TNFAIP3 NM_001270508.2(TNFAIP3):c.918C>G (p.Tyr306Ter) SNV Pathogenic
219112 rs864321684 GRCh37: 6:138198325-138198325
GRCh38: 6:137877188-137877188
5 TNFAIP3 GRCh37/hg19 6q23.3(chr6:138065475-138252638)x1 CN LOSS Pathogenic
694368 GRCh37: 6:138065475-138252638
GRCh38:
6 TNFAIP3 DEL Pathogenic
998175 GRCh37: 6:138125829-138244816
GRCh38:
7 TNFAIP3 NM_001270508.2(TNFAIP3):c.1727dup (p.His577fs) DUP Pathogenic
1319978 GRCh37: 6:138200305-138200306
GRCh38: 6:137879168-137879169
8 TNFAIP3 NM_001270508.2(TNFAIP3):c.1346del (p.Asn449fs) DEL Pathogenic
1676287 GRCh37: 6:138199927-138199927
GRCh38: 6:137878790-137878790
9 TNFAIP3 NM_001270508.2(TNFAIP3):c.1428G>A (p.Met476Ile) SNV Pathogenic
1676288 GRCh37: 6:138200010-138200010
GRCh38: 6:137878873-137878873
10 TNFAIP3 NM_001270508.2(TNFAIP3):c.912del (p.Glu305fs) DEL Pathogenic
836614 rs1776278098 GRCh37: 6:138198316-138198316
GRCh38: 6:137877179-137877179
11 overlap with 86 genes DEL Pathogenic
1684644 GRCh37:
GRCh38: 6:134838331-142160056
12 TNFAIP3 NM_001270508.2(TNFAIP3):c.811C>T (p.Arg271Ter) SNV Pathogenic
219110 rs864321626 GRCh37: 6:138198218-138198218
GRCh38: 6:137877081-137877081
13 TNFAIP3 NM_001270508.2(TNFAIP3):c.1809del (p.Thr604fs) DEL Pathogenic
219111 rs864321683 GRCh37: 6:138200388-138200388
GRCh38: 6:137879251-137879251
14 TNFAIP3 NM_001270508.2(TNFAIP3):c.1035C>A (p.Tyr345Ter) SNV Likely Pathogenic
1683561 GRCh37: 6:138199617-138199617
GRCh38: 6:137878480-137878480
15 TNFAIP3 NM_001270508.2(TNFAIP3):c.176_177del (p.Gln59fs) DEL Likely Pathogenic
1319838 GRCh37: 6:138192540-138192541
GRCh38: 6:137871403-137871404
16 TNFAIP3 NM_001270508.2(TNFAIP3):c.1477_1502del (p.Gly493fs) DEL Likely Pathogenic
1325206 GRCh37: 6:138200058-138200083
GRCh38: 6:137878921-137878946
17 TNFAIP3 NM_001270508.2(TNFAIP3):c.22C>T (p.Gln8Ter) SNV Likely Pathogenic
1028499 rs1461832435 GRCh37: 6:138192386-138192386
GRCh38: 6:137871249-137871249
18 TNFAIP3 NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) SNV Conflicting Interpretations Of Pathogenicity
1096311 GRCh37: 6:138202447-138202447
GRCh38: 6:137881310-137881310
19 TNFAIP3 NM_001270508.2(TNFAIP3):c.1294G>A (p.Gly432Ser) SNV Uncertain Significance
1331012 GRCh37: 6:138199876-138199876
GRCh38: 6:137878739-137878739
20 TNFAIP3 NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) SNV Uncertain Significance
135332 rs5029941 GRCh37: 6:138196060-138196060
GRCh38: 6:137874923-137874923
21 TNFAIP3 NM_001270508.2(TNFAIP3):c.1634C>T (p.Ala545Val) SNV Uncertain Significance
135338 rs142752989 GRCh37: 6:138200216-138200216
GRCh38: 6:137879079-137879079
22 TNFAIP3 NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys) SNV Uncertain Significance
1113112 GRCh37: 6:138202173-138202173
GRCh38: 6:137881036-137881036
23 TNFAIP3 NM_001270508.2(TNFAIP3):c.980C>T (p.Ala327Val) SNV Uncertain Significance
1679469 GRCh37: 6:138198387-138198387
GRCh38: 6:137877250-137877250
24 TNFAIP3 NM_001270508.2(TNFAIP3):c.227C>T (p.Thr76Ile) SNV Uncertain Significance
1031619 rs1776060477 GRCh37: 6:138192591-138192591
GRCh38: 6:137871454-137871454
25 TNFAIP3 NM_001270508.2(TNFAIP3):c.1853C>A (p.Pro618Gln) SNV Uncertain Significance
1319261 GRCh37: 6:138200435-138200435
GRCh38: 6:137879298-137879298
26 TNFAIP3 NM_001270508.2(TNFAIP3):c.1555G>A (p.Gly519Arg) SNV Uncertain Significance
973679 rs762149390 GRCh37: 6:138200137-138200137
GRCh38: 6:137879000-137879000
27 TNFAIP3 NM_001270508.2(TNFAIP3):c.742A>G (p.Ile248Val) SNV Uncertain Significance
135336 rs587778711 GRCh37: 6:138197240-138197240
GRCh38: 6:137876103-137876103
28 TNFAIP3 NM_001270508.2(TNFAIP3):c.1306G>A (p.Gly436Arg) SNV Uncertain Significance
812026 rs766691413 GRCh37: 6:138199888-138199888
GRCh38: 6:137878751-137878751
29 TNFAIP3 NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) SNV Uncertain Significance
135345 rs142253225 GRCh37: 6:138201240-138201240
GRCh38: 6:137880103-137880103
30 TNFAIP3 NM_001270508.2(TNFAIP3):c.1757C>T (p.Ala586Val) SNV Uncertain Significance
1675138 GRCh37: 6:138200339-138200339
GRCh38: 6:137879202-137879202
31 TNFAIP3 NM_001270508.2(TNFAIP3):c.1828G>A (p.Ala610Thr) SNV Uncertain Significance
994249 rs1776363649 GRCh37: 6:138200410-138200410
GRCh38: 6:137879273-137879273
32 TNFAIP3 NM_001270508.2(TNFAIP3):c.1809G>T (p.Gly603=) SNV Uncertain Significance
994419 rs201052251 GRCh37: 6:138200391-138200391
GRCh38: 6:137879254-137879254
33 TNFAIP3 NM_001270508.2(TNFAIP3):c.881C>T (p.Pro294Leu) SNV Uncertain Significance
995597 rs756723486 GRCh37: 6:138198288-138198288
GRCh38: 6:137877151-137877151
34 TNFAIP3 NM_001270508.2(TNFAIP3):c.465G>A (p.Thr155=) SNV Likely Benign
993905 rs140424499 GRCh37: 6:138196151-138196151
GRCh38: 6:137875014-137875014
35 TNFAIP3 NM_001270508.2(TNFAIP3):c.1710C>T (p.Leu570=) SNV Likely Benign
1330533 GRCh37: 6:138200292-138200292
GRCh38: 6:137879155-137879155
36 TNFAIP3 NM_001270508.2(TNFAIP3):c.296-15_296-13del MICROSAT Benign
993326 rs2307859 GRCh37: 6:138195962-138195964
GRCh38: 6:137874825-137874827
37 TNFAIP3 NM_001270508.2(TNFAIP3):c.380T>G (p.Phe127Cys) SNV Benign
135334 rs2230926 GRCh37: 6:138196066-138196066
GRCh38: 6:137874929-137874929
38 TNFAIP3 NM_001270508.2(TNFAIP3):c.2295C>T (p.Pro765=) SNV Benign
776164 rs5029956 GRCh37: 6:138202378-138202378
GRCh38: 6:137881241-137881241
39 TNFAIP3 NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) SNV Benign
711037 rs140354477 GRCh37: 6:138202258-138202258
GRCh38: 6:137881121-137881121
40 TNFAIP3 NM_001270508.2(TNFAIP3):c.487-8C>G SNV Benign
769695 rs5029947 GRCh37: 6:138196817-138196817
GRCh38: 6:137875680-137875680
41 TNFAIP3 NM_001270508.2(TNFAIP3):c.305A>G (p.Asn102Ser) SNV Benign
135330 rs146534657 GRCh37: 6:138195991-138195991
GRCh38: 6:137874854-137874854
42 TNFAIP3 NM_001270508.2(TNFAIP3):c.805+28A>C SNV Benign
1281403 GRCh37: 6:138197331-138197331
GRCh38: 6:137876194-137876194

Expression for Familial Behcet-Like Autoinflammatory Syndrome

Search GEO for disease gene expression data for Familial Behcet-Like Autoinflammatory Syndrome.

Pathways for Familial Behcet-Like Autoinflammatory Syndrome

Pathways related to Familial Behcet-Like Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.65 TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
2
Show member pathways
12.45 TNFRSF1A TNFAIP3 TNF IKBKG CARD14
3
Show member pathways
12.44 TNFRSF1A TNFAIP3 TNF IKBKG
4
Show member pathways
12.39 TNFRSF1A TNFAIP3 TNF IKBKG
5 12.23 TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
6
Show member pathways
12.12 TNFRSF1A TNF IKBKG
7
Show member pathways
11.93 TNF IL12RB2 IKBKG
8
Show member pathways
11.66 TNFRSF1A TNFAIP3 TNF OTULIN IKBKG
9
Show member pathways
11.59 TNFRSF1A TNF IKBKG
10
Show member pathways
11.52 TNFRSF1A TNF IKBKG
11
Show member pathways
11.43 TNFAIP3 PSTPIP1 MEFV IKBKG
12 11.37 IKBKG TNF TNFRSF1A
13 11.19 NLRP12 MEFV IKBKG
14 11.16 TNFRSF1A TNF IL12RB2 IKBKG
15 11.07 TNF IKBKG
16 11.05 TNFRSF1A TNFAIP3 TNF
17 10.94 TNF IKBKG
18 10.9 TNFRSF1A TNF
19 10.6 TNFRSF1A TNF
20 10.3 TNFRSF1A TNFAIP3 TNF IKBKG

GO Terms for Familial Behcet-Like Autoinflammatory Syndrome

Biological processes related to Familial Behcet-Like Autoinflammatory Syndrome according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of NF-kappaB transcription factor activity GO:0032088 10 TNFAIP3 OTULIN NLRP12
2 positive regulation of interleukin-1 beta production GO:0032731 9.91 TNF NLRP12 MEFV
3 negative regulation of interleukin-6 production GO:0032715 9.88 TNFAIP3 TNF NLRP12
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.85 TNFRSF1A TNF CARD14
5 pattern recognition receptor signaling pathway GO:0002221 9.81 MEFV LACC1
6 positive regulation of hepatocyte proliferation GO:2000347 9.8 TNFAIP3 TNF
7 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.8 IKBKG NLRP12 TNF
8 positive regulation of inflammatory response GO:0050729 9.8 TNFRSF1A TNF NLRP12 MEFV
9 regulation of establishment of endothelial barrier GO:1903140 9.78 TNFRSF1A TNF
10 nucleotide-binding oligomerization domain containing 2 signaling pathway GO:0070431 9.76 LACC1 OTULIN
11 negative regulation of inflammatory response GO:0050728 9.65 TNFRSF1A TNFAIP3 OTULIN NLRP12 MEFV
12 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.63 OTULIN TNFAIP3 TNFRSF1A
13 inflammatory response GO:0006954 9.47 TNFRSF1A TNFAIP3 TNF PSTPIP1 MEFV LACC1

Sources for Familial Behcet-Like Autoinflammatory Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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