BLAUS
MCID: BLS001
MIFTS: 64

Blau Syndrome (BLAUS)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 57 11 19 42 58 73 28 12 53 5 43 14 38 75
Arthrocutaneouveal Granulomatosis 57 11 19 42 73
Jabs Syndrome 57 11 19 73
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 57 19 42
Sarcoidosis, Early-Onset 57 73 71
Blaus 57 11 73
Acug 57 19 73
Granulomatosis, Familial Juvenile Systemic 57 19
Familial Juvenile Systemic Granulomatosis 42 73
Granulomatosis, Familial, Blau Type 57 19
Eos 57 73
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 73
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 71
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 19
Familial Granulomatosis, Blau Type 42
Pediatric Granulomatous Arthritis 42
Familial Granulomatosis Blau Type 73
Early Onset Sarcoidosis 19
Early-Onset Sarcoidosis 42

Characteristics:


Inheritance:

Autosomal dominant 58 57

Prevelance:

<1/1000000 (Denmark) 58

Age Of Onset:

Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in first 2 decades of life
variable manifestation of features
favorable response to intermittent, low-dose steroid therapy
allelic disorder to early-onset sarcoidosis


Classifications:

Orphanet: 58  
Rare eye diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare skin diseases
Rare immunological diseases


Summaries for Blau Syndrome

MedlinePlus Genetics: 42 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.A form of skin inflammation called granulomatous dermatitis is typically the earliest sign of Blau syndrome. This skin condition causes a persistent rash that can be scaly or involve hard lumps (nodules) that can be felt under the skin. The rash is usually found on the torso, arms, and legs.Arthritis is another common feature of Blau syndrome. In affected individuals, arthritis is characterized by inflammation of the lining of the joints (the synovium). This inflammation, known as synovitis, is associated with swelling and joint pain. Synovitis usually begins in the joints of the hands, feet, wrists, and ankles. As the condition worsens, it can involve additional joints and restrict movement by decreasing the range of motion in many joints. In people with Blau syndrome, the tendons as well as the joints can be inflamed, causing tenosynovitis.Most people with Blau syndrome also develop uveitis, which is swelling and inflammation of the middle layer of the eye (the uvea). The uvea includes the colored portion of the eye (the iris) and related tissues that underlie the white part of the eye (the sclera). Uveitis can cause eye irritation and pain, increased sensitivity to bright light (photophobia), and blurred vision. Other structures in the eye can also become inflamed, including the outermost protective layer of the eye (the conjunctiva), the tear glands, the specialized light-sensitive tissue that lines the back of the eye (the retina), and the nerve that carries information from the eye to the brain (the optic nerve). While individuals with Blau syndrome may have normal vision, inflammation of any of these structures can lead to severe vision impairment or blindness.Some individuals with Blau syndrome develop kidney disease (nephritis) due to inflammation. They may also have deposits of calcium in the kidneys (nephrocalcinosis) and often develop chronic kidney failure. Inflammation of blood vessels (vasculitis) can cause scarring and tissue death in the vessels and impedes blood flow to tissues and organs.Less commonly, Blau syndrome can affect other parts of the body, including the liver, spleen, lymph nodes, brain, blood vessels, lungs, and heart. Inflammation involving these organs and tissues can impair their function and cause life-threatening complications. Rarely, affected individuals have disturbances in nerve function (neuropathy), episodes of fever, or high blood pressure in the blood vessels that carry blood from the heart to the lungs (pulmonary hypertension).

MalaCards based summary: Blau Syndrome, also known as arthrocutaneouveal granulomatosis, is related to uveitis and sarcoidosis 1. An important gene associated with Blau Syndrome is NOD2 (Nucleotide Binding Oligomerization Domain Containing 2), and among its related pathways/superpathways are Innate Immune System and Disease. Affiliated tissues include skin, eye and kidney, and related phenotypes are arthralgia and joint swelling

OMIM®: 57 Blau syndrome is characterized by the triad of granulomatous arthritis, uveitis, and dermatitis. First described in 1985, it was considered to be distinct from sarcoidosis due to the early age of onset and autosomal dominant inheritance pattern. Published reports of sporadic cases of children with 'early-onset sarcoidosis' (EOS) with granulomatous involvement of different organs, primarily affecting joints, eyes, and skin, were suspected to represent the same disorder because the patients' characteristics were nearly identical. Subsequently, identical NOD2 mutations were identified in patients with Blau syndrome as well as in patients diagnosed with EOS, confirming earlier suspicions that they represented the same disease (summary by Borzutzky et al., 2010). Unlike older children diagnosed with sarcoidosis, these patients have no apparent pulmonary involvement; however, the disease is progressive and may result in severe complications such as blindness and/or joint destruction (Shetty and Gedalia, 1998). (186580) (Updated 08-Dec-2022)

GARD: 19 Blau syndrome is a rare condition characterized mainly by skin rash, arthritis, and uveitis. Characteristic findings include synovial effusions (fluid in the joints due to inflammation) and cysts, anterior uveitis (swelling and irritation of the uvea), and focal posterior synechiae (adhesion of the iris to the cornea). Permanent bending of the fingers and toes (camptodactyly) and other findings have also been reported. It is caused by genetic changes in the NOD2 gene and is inherited in an autosomal dominant manner. Blau syndrome and early-onset sarcoidosis have the same symptoms and genetic cause, but early-onset sarcoidosis is caused by de novo (new) genetic changes and occurs sporadically (in individuals with no history of the disorder in the family).

Orphanet: 58 Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

UniProtKB/Swiss-Prot: 73 An autosomal dominant inflammatory disorder characterized by the formation of immune granulomas invading the skin, joints and eye. Other organs may be involved. Clinical manifestations are variable and include early-onset granulomatous arthritis, uveitis and skin rash. Blindness, joint destruction and visceral involvement have been reported in severe cases.

Disease Ontology: 11 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in heterozygous mutations in the NOD2 gene.

Wikipedia: 75 Blau syndrome is an autosomal dominant genetic inflammatory disorder which affects the skin, eyes, and... more...

Related Diseases for Blau Syndrome

Diseases related to Blau Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 609)
# Related Disease Score Top Affiliating Genes
1 uveitis 31.4 TNF NOD2 IL4 IL1B IL10
2 sarcoidosis 1 31.3 TNF NOD2 IL1B IL10
3 panuveitis 31.1 TNF NOD2 IL1B IL10
4 granulomatous dermatitis 31.0 TNF NOD2
5 anterior uveitis 30.9 TNF TLR4 TLR2 IL1B IL10
6 exanthem 30.8 TNF NLRP3 IL4 IL1B IL10 CSF3
7 tenosynovitis 30.7 TNF NOD2 IL1B
8 iritis 30.7 TNF NOD2 IL10
9 synovitis 30.7 TNF IL1B IL10 CSF1
10 arthropathy 30.5 TNF NOD2 NLRP3 IL1B
11 iridocyclitis 30.5 TNF IL1B IL10
12 juvenile rheumatoid arthritis 30.4 TNF IL1RAPL2 IL1B
13 optic papillitis 30.4 TNF NLRP3
14 erythema nodosum 30.4 TNF NOD2 IL1B IL10
15 inflammatory bowel disease 1 30.4 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
16 aortitis 30.2 TNF IL1B CSF3
17 myelitis 30.2 TNF MEFV IL10
18 common cold 30.2 TNF IL4 IL1B IL10
19 vasculitis 30.2 TNF MEFV IL1B IL10
20 rhinitis 30.2 TNF TLR4 IL4 IL1B IL10
21 folliculitis 30.2 TNF IL4 IL10
22 chorioretinitis 30.1 TNF NOD2 IL1B IL10
23 pericarditis 30.1 TNF MEFV IL1B
24 bowel dysfunction 30.1 TNF NOD2 IL1B IL10
25 encephalitis 30.1 TNF TLR2 IL1B IL10
26 interstitial lung disease 30.1 TNF IL4 IL1B IL10
27 takayasu arteritis 30.1 TNF TLR4 IL10
28 cerebral palsy 30.1 TNF TLR4 IL4 IL1B IL10 CSF3
29 bronchiectasis 30.1 TNF TLR2 IL1B
30 spondylitis 30.0 TNF NOD2 IL1B IL10
31 spondyloarthropathy 1 30.0 TNF TLR4 NOD2 IL1B IL10
32 lung disease 30.0 TNF TLR4 TLR2 IL1B IL10
33 crohn's disease 30.0 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
34 dermatitis 30.0 TNF NOD2 NLRP3 IL4 IL1B IL10
35 non-alcoholic steatohepatitis 29.9 TNF TLR4 NLRP3 IL1B
36 urinary tract infection 29.9 TNF TLR4 TLR2 IL1B IL10
37 demyelinating disease 29.9 TNF IL4 IL1B IL10 CSF1
38 pre-eclampsia 29.8 TNF TLR4 IL4 IL1B IL10
39 psoriatic arthritis 29.8 TNF TLR2 NOD2 IL1RAPL2 IL1B IL10
40 keratitis, hereditary 29.8 TNF TLR4 TLR2 NLRP3 IL1B IL10
41 autoinflammatory syndrome 29.6 NOD2 NLRP3 NLRP12 NLRC4 MVK MEFV
42 brucellosis 29.6 TNF TLR4 NLRP3 MEFV IL4 IL10
43 toxoplasmosis 29.6 TNF NOD2 NLRP1 IL4 IL1B IL10
44 bacterial pneumonia 29.6 TNF TLR4 TLR2 IL4 IL1B IL10
45 bone inflammation disease 29.6 TNF TLR4 TLR2 NLRP3 IL4 IL1B
46 eye disease 29.5 TNF TLR4 TLR2 NLRP3 IL4 IL1B
47 toxic shock syndrome 29.5 TNF TLR4 TLR2 IL4 IL1B IL10
48 autoimmune disease 29.3 TNF TLR4 NLRP1 IL4 IL1RAPL2 IL1B
49 candidiasis 29.3 TNF TLR4 TLR2 NLRP3 IL4 IL1B
50 malaria 29.3 TNF TLR4 TLR2 NLRP3 NLRP12 IL4

Graphical network of the top 20 diseases related to Blau Syndrome:



Diseases related to Blau Syndrome

Symptoms & Phenotypes for Blau Syndrome

Human phenotypes related to Blau Syndrome:

58 30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002829
2 joint swelling 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001386
3 erythema 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0010783
4 skin rash 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000988
5 keratitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000491
6 limitation of joint mobility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001376
7 papule 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0200034
8 synovitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100769
9 hyperpigmentation of the skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000953
10 posterior uveitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012123
11 polyarticular arthritis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005764
12 iridocyclitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001094
13 cataract 58 30 Frequent (33%) Frequent (79-30%)
HP:0000518
14 photophobia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000613
15 fever 58 30 Frequent (33%) Frequent (79-30%)
HP:0001945
16 dry skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0000958
17 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
18 camptodactyly of finger 58 30 Very rare (1%) Frequent (79-30%)
HP:0100490
19 erythema nodosum 58 30 Very rare (1%) Frequent (79-30%)
HP:0012219
20 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
21 hypertension 58 30 Very rare (1%) Occasional (29-5%)
HP:0000822
22 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
23 ichthyosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008064
24 nephropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000112
25 retinopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000488
26 anemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001903
27 skin ulcer 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0200042
28 abnormality of the liver 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001392
29 abnormal retinal vascular morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008046
30 dyspnea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002094
31 pericarditis 58 30 Very rare (1%) Occasional (29-5%)
HP:0001701
32 pulmonary arterial hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002092
33 retrobulbar optic neuritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100654
34 abnormal choroid morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000610
35 lymphadenopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002716
36 aortic aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004942
37 visual loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000572
38 xerostomia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000217
39 abnormal salivary gland morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010286
40 stage 5 chronic kidney disease 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003774
41 large vessel vasculitis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005310
42 clear cell renal cell carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006770
43 arthritis 30 Very rare (1%) HP:0001369
44 uveitis 30 Very rare (1%) HP:0000554
45 iritis 30 Very rare (1%) HP:0001101
46 intermittent generalized erythematous papular rash 30 Very rare (1%) HP:0007432
47 abnormal cranial nerve morphology 58 30 Occasional (29-5%)
HP:0001291
48 eczema 30 HP:0000964
49 flexion contracture of toe 30 HP:0005830
50 abnormality of the optic nerve 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
glaucoma
uveitis
iritis
cystoid macular edema
band keratopathy
more
Skeletal Hands:
camptodactyly
flexion contractures of the fingers

Skeletal Feet:
flexion contractures of the toes

Skeletal:
joint swelling
tendonitis
joint contractures
granulomatous synovitis
granulomatous arthritis
more
Skin Nails Hair Skin:
intermittent generalized erythematous papular rash
granulomatous dermatitis
skin ulceration
skin biopsy shows noncaseating granulomas
cysts over wrist and ankle joints

Clinical features from OMIM®:

186580 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Blau Syndrome according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.17 CSF1 CSF3 DPEP1 IL1B IL1RAPL2 IL4
2 no effect GR00402-S-2 10.17 CSF1 CSF3 IL10 IL1B IL1RAPL2 IL4
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.09 IL10 IL1B NLRP1 NLRP3 NOD1 TNF
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.09 IL10 IL1B NLRC4 NLRP1 NLRP3 NOD1

MGI Mouse Phenotypes related to Blau Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.3 CSF1 IL10 IL1B IL4 MEFV NLRC4
2 growth/size/body region MP:0005378 10.25 CSF1 IL10 IL1B IL4 MEFV MVK
3 immune system MP:0005387 10.25 CSF1 CSF3 IL10 IL1B IL4 MEFV
4 liver/biliary system MP:0005370 10.18 CSF1 IL10 IL4 MEFV NLRP1 NLRP3
5 cellular MP:0005384 10.15 CSF1 IL10 IL4 MEFV NLRC4 NLRP1
6 digestive/alimentary MP:0005381 10.06 IL10 IL4 NLRP12 NLRP3 NOD2 RIPK2
7 reproductive system MP:0005389 10 CSF1 IL10 IL4 MEFV MVK NLRC4
8 skeleton MP:0005390 9.93 CSF1 IL10 IL1B IL4 MEFV NLRC4
9 hematopoietic system MP:0005397 9.89 CSF1 CSF3 IL10 IL1B IL4 MEFV
10 integument MP:0010771 9.36 CSF1 CSF3 IL10 IL1B IL4 MEFV

Drugs & Therapeutics for Blau Syndrome

Search Clinical Trials, NIH Clinical Center for Blau Syndrome

Cochrane evidence based reviews: blau syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

# Genetic test Affiliating Genes
1 Blau Syndrome 28 NOD2

Anatomical Context for Blau Syndrome

Organs/tissues related to Blau Syndrome:

MalaCards : Skin, Eye, Kidney, Liver, Spleen, Retina, Heart

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 386)
# Title Authors PMID Year
1
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 53 62 57 5
19467619 2010
2
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 53 62 57 5
15459013 2005
3
CARD15 mutations in Blau syndrome. 53 62 57 5
11528384 2001
4
Leg ulcers: a new symptom of Blau syndrome? 62 57 5
18955195 2008
5
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. 57 5
15086578 2004
6
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. 57 5
9124059 1997
7
Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. 57 5
7825454 1994
8
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 53 62 5
20084402 2010
9
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 53 62 5
20199415 2010
10
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 53 62 5
19116920 2009
11
NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort. 53 62 5
17968944 2007
12
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 53 62 5
17393391 2007
13
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. 53 62 5
17207093 2006
14
A new CARD15 mutation in Blau syndrome. 53 62 5
15812565 2005
15
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. 53 62 5
15554080 2004
16
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. 62 5
28639104 2017
17
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. 62 5
26606664 2016
18
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 62 5
25416713 2015
19
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. 62 5
25429073 2015
20
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 62 5
25093298 2014
21
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 62 5
24713464 2014
22
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 62 5
22509093 2012
23
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. 62 5
20039400 2010
24
NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. 62 5
19479837 2009
25
Blau syndrome associated with a CARD15/NOD2 mutation. 62 5
17157607 2006
26
Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 62 5
15044951 2004
27
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 62 5
14522785 2003
28
Blau syndrome: a new kindred. 62 57
12894082 2003
29
Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. 53 5
12626759 2003
30
Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. 62 57
12470760 2002
31
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 62 57
9508240 1998
32
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. 62 57
8900239 1996
33
Liver involvement in familial granulomatous arthritis (Blau syndrome). 62 57
8882056 1996
34
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. 62 57
8394645 1993
35
NOD2-associated autoinflammatory disease: a large cohort study. 5
26070941 2015
36
Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 5
26500656 2015
37
The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 5
22684479 2013
38
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 5
23102769 2013
39
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 5
21983784 2011
40
NOD2 exonic variations in Iranian Crohn's disease patients. 5
21274544 2011
41
Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 5
21548950 2011
42
Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 5
21335489 2011
43
A new category of autoinflammatory disease associated with NOD2 gene mutations. 5
21914217 2011
44
Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 5
19713276 2009
45
Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 5
18489434 2008
46
Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria. 5
18240302 2008
47
Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations. 57
17698784 2007
48
Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations. 5
15770725 2005
49
Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 5
15571588 2004
50
NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? 5
15190267 2004

Variations for Blau Syndrome

ClinVar genetic disease variations for Blau Syndrome:

5 (show top 50) (show all 630)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NOD2 NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) DUP Association
Conflicting Interpretations Of Pathogenicity
4691 rs2066847 GRCh37: 16:50763778-50763779
GRCh38: 16:50729867-50729868
2 NOD2 NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV Association
Likely Benign
4693 rs2066844 GRCh37: 16:50745926-50745926
GRCh38: 16:50712015-50712015
3 NOD2 NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV Association
Likely Benign
97856 rs104895467 GRCh37: 16:50750810-50750810
GRCh38: 16:50716899-50716899
4 NOD2 NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV Association
Conflicting Interpretations Of Pathogenicity
Uncertain Significance
4692 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
5 NOD2 NM_001370466.1(NOD2):c.2717+158C>T SNV Pathogenic
Likely Benign
4697 rs5743289 GRCh37: 16:50756774-50756774
GRCh38: 16:50722863-50722863
6 NOD2 NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) SNV Pathogenic
1453223 GRCh37: 16:50745620-50745620
GRCh38: 16:50711709-50711709
7 NOD2 NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) SNV Pathogenic
97832 rs104895478 GRCh37: 16:50745306-50745306
GRCh38: 16:50711395-50711395
8 NOD2 NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) SNV Pathogenic
4695 rs104895460 GRCh37: 16:50745227-50745227
GRCh38: 16:50711316-50711316
9 NOD2 NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) SNV Pathogenic
4698 rs104895472 GRCh37: 16:50745309-50745309
GRCh38: 16:50711398-50711398
10 NOD2 NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) SNV Pathogenic
4699 rs104895476 GRCh37: 16:50744968-50744968
GRCh38: 16:50711057-50711057
11 NOD2 NM_001370466.1(NOD2):c.1951del (p.Leu651fs) DEL Pathogenic
638429 rs1201050964 GRCh37: 16:50745853-50745853
GRCh38: 16:50711942-50711942
12 NOD2 NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV Pathogenic
Pathogenic
4694 rs104895461 GRCh37: 16:50744823-50744823
GRCh38: 16:50710912-50710912
13 NOD2 NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV Pathogenic
Pathogenic
4696 rs104895462 GRCh37: 16:50744822-50744822
GRCh38: 16:50710911-50710911
14 NOD2 NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV Pathogenic
Pathogenic
4701 rs104895477 GRCh37: 16:50744969-50744969
GRCh38: 16:50711058-50711058
15 NOD2 NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter) SNV Pathogenic
973657 rs776701942 GRCh37: 16:50745949-50745949
GRCh38: 16:50712038-50712038
16 NOD2 NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV Pathogenic
Not Provided
97834 rs104895473 GRCh37: 16:50745360-50745360
GRCh38: 16:50711449-50711449
17 NOD2 NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) SNV Likely Pathogenic
Not Provided
97842 rs104895475 GRCh37: 16:50745832-50745832
GRCh38: 16:50711921-50711921
18 NOD2 NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) SNV Likely Pathogenic
1184615 GRCh37: 16:50745293-50745293
GRCh38: 16:50711382-50711382
19 NOD2 NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) SNV Conflicting Interpretations Of Pathogenicity
Benign
808041 rs2066845 GRCh37: 16:50756540-50756540
GRCh38: 16:50722629-50722629
20 NOD2 NM_001370466.1(NOD2):c.*609C>T SNV Uncertain Significance
887669 rs1965489095 GRCh37: 16:50766339-50766339
GRCh38: 16:50732428-50732428
21 NOD2 NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe) SNV Uncertain Significance
887101 rs1292846110 GRCh37: 16:50733841-50733841
GRCh38: 16:50699930-50699930
22 NOD2 NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) SNV Uncertain Significance
Likely Benign
319464 rs773758818 GRCh37: 16:50746187-50746187
GRCh38: 16:50712276-50712276
23 NOD2 NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) SNV Uncertain Significance
Likely Benign
319467 rs770915641 GRCh37: 16:50750524-50750524
GRCh38: 16:50716613-50716613
24 NOD2 NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) SNV Uncertain Significance
Benign
97849 rs104895484 GRCh37: 16:50746193-50746193
GRCh38: 16:50712282-50712282
25 NOD2 NM_001370466.1(NOD2):c.-8-2193G>A SNV Uncertain Significance
Uncertain Significance
319423 rs886052043 GRCh37: 16:50731206-50731206
GRCh38: 16:50697295-50697295
26 NOD2 NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro) SNV Uncertain Significance
887606 rs1965233783 GRCh37: 16:50759437-50759437
GRCh38: 16:50725526-50725526
27 NOD2 NM_001370466.1(NOD2):c.1188G>A (p.Val396=) SNV Uncertain Significance
725043 rs77966199 GRCh37: 16:50745091-50745091
GRCh38: 16:50711180-50711180
28 NOD2 NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) SNV Uncertain Significance
Likely Benign
Likely Benign
319462 rs61747625 GRCh37: 16:50746086-50746086
GRCh38: 16:50712175-50712175
29 NOD2 NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) SNV Uncertain Significance
Uncertain Significance
Benign
319472 rs142559533 GRCh37: 16:50753917-50753917
GRCh38: 16:50720006-50720006
30 NOD2 NM_001370466.1(NOD2):c.2465+2dup DUP Uncertain Significance
418716 rs748508924 GRCh37: 16:50750582-50750583
GRCh38: 16:50716671-50716672
31 NOD2 NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter) SNV Uncertain Significance
849868 rs781333877 GRCh37: 16:50744519-50744519
GRCh38: 16:50710608-50710608
32 NOD2 NM_001370466.1(NOD2):c.2465+1G>A SNV Uncertain Significance
Likely Benign
631749 rs373550987 GRCh37: 16:50750582-50750582
GRCh38: 16:50716671-50716671
33 NOD2 NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) SNV Uncertain Significance
Likely Benign
97848 rs104895443 GRCh37: 16:50746154-50746154
GRCh38: 16:50712243-50712243
34 NOD2 NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) SNV Uncertain Significance
Likely Benign
97877 rs104895456 GRCh37: 16:50733738-50733738
GRCh38: 16:50699827-50699827
35 NOD2 NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs) DEL Uncertain Significance
859056 rs745991254 GRCh37: 16:50745723-50745741
GRCh38: 16:50711812-50711830
36 NOD2 NM_001370466.1(NOD2):c.1923del (p.His642fs) DEL Uncertain Significance
863734 rs758485603 GRCh37: 16:50745826-50745826
GRCh38: 16:50711915-50711915
37 NOD2 NM_001370466.1(NOD2):c.*64G>C SNV Uncertain Significance
884458 rs1053712094 GRCh37: 16:50765794-50765794
GRCh38: 16:50731883-50731883
38 NOD2 NM_001370466.1(NOD2):c.*1013A>G SNV Uncertain Significance
884522 rs549273021 GRCh37: 16:50766743-50766743
GRCh38: 16:50732832-50732832
39 NOD2 NM_001370466.1(NOD2):c.-8-2202A>G SNV Uncertain Significance
885199 rs1963694151 GRCh37: 16:50731197-50731197
GRCh38: 16:50697286-50697286
40 NOD2 NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp) SNV Uncertain Significance
Uncertain Significance
885262 rs373838219 GRCh37: 16:50741815-50741815
GRCh38: 16:50707904-50707904
41 NOD2 NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile) SNV Uncertain Significance
885263 rs1964416023 GRCh37: 16:50744475-50744475
GRCh38: 16:50710564-50710564
42 NOD2 NM_001370466.1(NOD2):c.*1200A>G SNV Uncertain Significance
885458 rs980810508 GRCh37: 16:50766930-50766930
GRCh38: 16:50733019-50733019
43 NOD2 NM_001370466.1(NOD2):c.789C>T (p.Asp263=) SNV Uncertain Significance
Likely Benign
765940 rs749180535 GRCh37: 16:50744692-50744692
GRCh38: 16:50710781-50710781
44 NOD2 NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser) SNV Uncertain Significance
888495 rs1328584012 GRCh37: 16:50745413-50745413
GRCh38: 16:50711502-50711502
45 NOD2 NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu) SNV Uncertain Significance
Uncertain Significance
97872 rs104895457 GRCh37: 16:50759450-50759450
GRCh38: 16:50725539-50725539
46 NOD2 NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) SNV Uncertain Significance
Likely Benign
Benign
4700 rs104895438 GRCh37: 16:50745656-50745656
GRCh38: 16:50711745-50711745
47 NOD2 NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) SNV Uncertain Significance
Likely Benign
319434 rs148516118 GRCh37: 16:50744556-50744556
GRCh38: 16:50710645-50710645
48 NOD2 NM_001370466.1(NOD2):c.313C>T (p.Arg105Ter) SNV Uncertain Significance
995705 rs757487598 GRCh37: 16:50733719-50733719
GRCh38: 16:50699808-50699808
49 NOD2 NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) SNV Uncertain Significance
Benign
319455 rs369957746 GRCh37: 16:50745803-50745803
GRCh38: 16:50711892-50711892
50 NOD2 NM_001370466.1(NOD2):c.*1201T>A SNV Uncertain Significance
319493 rs751525993 GRCh37: 16:50766931-50766931
GRCh38: 16:50733020-50733020

UniProtKB/Swiss-Prot genetic disease variations for Blau Syndrome:

73 (show all 11)
# Symbol AA change Variation ID SNP ID
1 NOD2 p.Arg334Gln VAR_012676 rs104895461
2 NOD2 p.Arg334Trp VAR_012677 rs104895462
3 NOD2 p.Leu469Phe VAR_012685 rs104895460
4 NOD2 p.Asp382Glu VAR_023822 rs104895476
5 NOD2 p.Glu383Lys VAR_023823 rs104895477
6 NOD2 p.His496Leu VAR_023824 rs104895472
7 NOD2 p.Thr605Asn VAR_065228
8 NOD2 p.Pro507Ser VAR_073180
9 NOD2 p.Met513Thr VAR_073238 rs104895473
10 NOD2 p.Thr605Pro VAR_073241 rs104895474
11 NOD2 p.Asn670Lys VAR_073242 rs104895475

Expression for Blau Syndrome

Search GEO for disease gene expression data for Blau Syndrome.

Pathways for Blau Syndrome

Pathways related to Blau Syndrome according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.82 TNF TLR4 TLR2 RIPK2 PSTPIP1 NOD2
2
Show member pathways
13.76 TLR4 TLR2 RIPK2 PSTPIP1 NOD2 NOD1
3
Show member pathways
13.42 TNF TLR4 TLR2 IL4 IL1B IL10
4
Show member pathways
13.29 TNF RIPK2 NOD2 NOD1 IL4 IL1B
5 12.69 NLRP3 IL1B IL10 CSF3 CSF1
6 12.52 IL10 IL1B IL4 NLRP1 NOD1 RIPK2
7
Show member pathways
12.5 IL1B IL4 NOD1 NOD2 RIPK2
8
Show member pathways
12.44 TNF TLR4 TLR2 IL4 IL1B
9
Show member pathways
12.35 TNF RIPK2 NOD1 NLRP1
10 12.12 TNF IL4 IL1B IL10
11 12.02 IL1B IL4 TLR4 TNF
12 12 TNF IL4 IL10 CSF3 CSF1
13 11.98 TNF IL4 IL1B IL10
14
Show member pathways
11.93 PSTPIP1 NLRP3 NLRP1 NLRC4 MEFV IL1B
15
Show member pathways
11.91 TNF TLR4 TLR2 IL1B IL10
16 11.9 TNF IL4 IL1B IL10
17
Show member pathways
11.88 IL1B IL4 TLR2 TLR4
18
Show member pathways
11.86 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
19 11.81 TNF IL4 IL1B IL10
20
Show member pathways
11.78 TNF NLRP3 IL1B
21 11.77 TNF IL1B IL10 CSF1
22 11.75 TNF TLR4 IL1B
23 11.74 TNF TLR4 IL4 IL10
24
Show member pathways
11.73 RIPK2 PSTPIP1 NOD2 NOD1 NLRP3 NLRP1
25 11.68 TNF IL4 IL1B CSF3
26 11.66 TNF TLR4 IL10
27 11.66 IL10 IL1B TLR4 TNF
28 11.61 TNF TLR4 RIPK2
29 11.6 TNF TLR4 RIPK2
30 11.57 NOD2 TLR4 TNF
31
Show member pathways
11.57 TNF TLR4 TLR2 NOD2 IL4 IL10
32 11.56 TNF TLR4 TLR2 IL1B CSF1
33
Show member pathways
11.53 RIPK2 NOD2 NOD1
34 11.53 TNF IL1B IL10 CSF3 CSF1
35 11.44 RIPK2 NOD2 NOD1
36 11.37 IL10 IL1B TLR4 TNF
37 11.35 TNF IL4 IL1B
38 11.26 TNF IL4 IL10
39 11.24 TNF NLRP3 IL1B CSF1
40 11.22 RIPK2 NOD2 NOD1 NLRP3 NLRP12 NLRP1
41 11.2 CSF1 CSF3 IL10 IL1B IL4 TNF
42 11.19 TLR2 NLRP3 IL1B
43 11.19 TNF RIPK2 NOD2
44 11.12 TLR4 IL1B IL10
45 11.07 TNF NLRP1 IL1B
46 11.04 TNF IL4 IL1B IL10 CSF3 CSF1
47 10.97 TNF IL1B CSF1
48 10.79 IL4 IL1B
49 10.65 TLR4 TLR2
50 10.54 NLRP3 IL1B

GO Terms for Blau Syndrome

Cellular components related to Blau Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 inflammasome complex GO:0061702 9.17 NLRP3 NLRP1 NLRC4 MEFV

Biological processes related to Blau Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 82)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.7 CSF3 IL10 IL1B IL4 NLRP3 NOD2
2 signal transduction GO:0007165 10.6 CSF1 CSF3 IL10 IL1B IL1RAPL2 IL4
3 apoptotic process GO:0006915 10.56 DPEP1 IL1B NLRC4 NLRP1 NLRP3 NOD1
4 positive regulation of gene expression GO:0010628 10.53 TNF TLR4 TLR2 IL4 IL1B CSF1
5 immune response GO:0006955 10.48 TNF TLR4 TLR2 IL4 IL1B IL10
6 innate immune response GO:0045087 10.46 CSF1 MEFV NLRC4 NLRP1 NLRP3 NOD1
7 defense response to bacterium GO:0042742 10.45 IL10 NLRC4 NLRP1 NOD1 NOD2 TLR4
8 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.44 IL1B NOD1 NOD2 RIPK2 TLR4 TNF
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.43 TNF TLR4 RIPK2 NOD2 NOD1
10 positive regulation of tumor necrosis factor production GO:0032760 10.37 NOD1 NOD2 RIPK2 TLR2 TLR4
11 positive regulation of JNK cascade GO:0046330 10.37 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
12 negative regulation of inflammatory response GO:0050728 10.36 IL10 IL4 MEFV MVK NLRP12 NLRP3
13 positive regulation of DNA-binding transcription factor activity GO:0051091 10.34 CSF3 IL10 IL1B TNF
14 positive regulation of type II interferon production GO:0032729 10.32 IL1B RIPK2 TLR4 TNF
15 positive regulation of MAP kinase activity GO:0043406 10.32 IL1B NOD2 TLR4 TNF
16 ERK1 and ERK2 cascade GO:0070371 10.32 TLR4 RIPK2 NOD2 NOD1 NLRP12
17 negative regulation of tumor necrosis factor production GO:0032720 10.31 TLR4 NOD2 IL4 IL10
18 positive regulation of interleukin-8 production GO:0032757 10.31 TNF IL1B NOD1 NOD2 TLR2 TLR4
19 negative regulation of interleukin-6 production GO:0032715 10.3 IL10 NLRP12 TLR4 TNF
20 regulation of inflammatory response GO:0050727 10.3 TNF TLR4 NOD2 NLRP3 NLRP12 NLRP1
21 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 10.3 NLRC4 NLRP1 NLRP12 NLRP3 NOD1 TNF
22 positive regulation of interleukin-12 production GO:0032735 10.29 TLR4 TLR2 RIPK2 NOD2
23 positive regulation of interleukin-10 production GO:0032733 10.29 IL4 NOD2 TLR2 TLR4
24 defense response to Gram-positive bacterium GO:0050830 10.29 TNF TLR2 RIPK2 NOD2 NOD1 NLRP3
25 regulation of apoptotic process GO:0042981 10.28 RIPK2 NOD2 NOD1 NLRP1 NLRC4
26 lipopolysaccharide-mediated signaling pathway GO:0031663 10.28 IL1B RIPK2 TLR2 TLR4 TNF
27 positive regulation of interleukin-6 production GO:0032755 10.28 IL1B NOD1 NOD2 RIPK2 TLR2 TLR4
28 JNK cascade GO:0007254 10.27 IL1B NOD1 NOD2 RIPK2 TLR4 TNF
29 I-kappaB kinase/NF-kappaB signaling GO:0007249 10.26 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
30 positive regulation of chemokine production GO:0032722 10.25 IL1B RIPK2 TLR2 TLR4 TNF
31 response to lipopolysaccharide GO:0032496 10.25 TNF TLR4 TLR2 NOD2 IL1B IL10
32 cellular response to lipopolysaccharide GO:0071222 10.25 TNF TLR4 RIPK2 NOD2 NLRP3 IL1B
33 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.25 IL1B NLRC4 NLRP3 NOD1 NOD2 RIPK2
34 positive regulation of macrophage cytokine production GO:0060907 10.24 TLR4 RIPK2 NOD2 NOD1
35 positive regulation of phagocytosis GO:0050766 10.23 TNF NOD2 IL1B
36 negative regulation of type II interferon production GO:0032689 10.23 TLR4 NOD2 IL10
37 positive regulation of nitric oxide biosynthetic process GO:0045429 10.22 TNF TLR4 IL1B
38 positive regulation of interferon-beta production GO:0032728 10.22 TLR4 TLR2 RIPK2
39 defense response GO:0006952 10.22 TNF NOD2 NOD1 NLRP3
40 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 10.22 TNF NLRP12 IL1B
41 positive regulation of NIK/NF-kappaB signaling GO:1901224 10.21 IL1B NLRP12 NOD1 NOD2 TLR2 TLR4
42 microglial cell activation GO:0001774 10.2 IL4 TLR2 TNF
43 positive regulation of cytokine production involved in inflammatory response GO:1900017 10.2 NOD2 TLR4 TNF
44 negative regulation of interleukin-12 production GO:0032695 10.19 IL10 MEFV NOD2
45 pyroptosis GO:0070269 10.19 MEFV NLRC4 NLRP1 NLRP3
46 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 10.18 NOD2 TLR2 TLR4
47 positive regulation of heterotypic cell-cell adhesion GO:0034116 10.18 TNF IL1B IL10
48 immune system process GO:0002376 10.18 TLR4 TLR2 RIPK2 PSTPIP1 NOD2 NOD1
49 positive regulation of MHC class II biosynthetic process GO:0045348 10.17 TLR4 IL4 IL10
50 detection of bacterium GO:0016045 10.17 NOD2 NOD1 NLRC4

Molecular functions related to Blau Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 10.39 CSF1 MEFV MVK NLRC4 NLRP3 NOD1
2 pattern recognition receptor activity GO:0038187 9.91 TLR2 NOD2 NOD1
3 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.88 NLRP1 NLRP12 NOD1
4 NAD(P)+ nucleosidase activity GO:0050135 9.8 IL1RAPL2 TLR2 TLR4
5 lipopolysaccharide immune receptor activity GO:0001875 9.76 TLR4 TLR2
6 CARD domain binding GO:0050700 9.73 NOD1 NOD2 RIPK2
7 cytokine activity GO:0005125 9.73 TNF IL4 IL1B IL10 CSF3 CSF1
8 NAD+ nucleotidase, cyclic ADP-ribose generating GO:0061809 9.63 IL1RAPL2 TLR2 TLR4
9 peptidoglycan binding GO:0042834 9.17 TLR2 NOD2 NOD1 NLRP3

Sources for Blau 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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