BLAUS
MCID: BLS001
MIFTS: 63

Blau Syndrome (BLAUS)

Categories: Blood diseases, Bone diseases, Eye diseases, Genetic diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 56 12 52 25 58 73 36 29 13 54 6 15 39
Arthrocutaneouveal Granulomatosis 56 12 52 25 73
Sarcoidosis, Early-Onset 56 73 36 39 71
Jabs Syndrome 56 12 52 73
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 56 52 25
Blaus 56 12 73
Acug 56 52 73
Granulomatosis, Familial Juvenile Systemic 56 52
Familial Juvenile Systemic Granulomatosis 25 73
Granulomatosis, Familial, Blau Type 56 52
Eos 56 73
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 73
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 71
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 52
Arthrocutaneouveal Granulomatosis; Acug 56
Familial Granulomatosis, Blau Type 25
Pediatric Granulomatous Arthritis 25
Familial Granulomatosis Blau Type 73
Sarcoidosis, Early-Onset; Eos 56
Early-Onset Sarcoidosis 25

Characteristics:

Orphanet epidemiological data:

58
blau syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Denmark); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Blau Syndrome

Genetics Home Reference : 25 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 NOD-like receptor signaling pathway and Innate Immune System. Affiliated tissues include skin, eye and liver, and related phenotypes are skin rash and arthralgia

Disease Ontology : 12 A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in heterozygous mutations in the NOD2 gene.

NIH Rare Diseases : 52 Blau syndrome is a rare condition characterized mainly by skin rash, arthritis and uveitis . It has variable expressivity and usually affects preschool age children younger than four years of age. 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 mutations 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) mutations and occurs sporadically (in individuals with no history of the disorder in the family).

OMIM : 56 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)

KEGG : 36 Blau syndrome is an autosomal dominantly-inherited disease which is presented with triad of juvenile-onset granulomatous arthritis, uveitis, and skin rashes. Inflammation of the eyes, camptodactyly and lymphaedenopathy are additional feature of the disease. Missense mutations in the NOD region of NOD2 underlie Blau syndrome, augmenting NOD2 activity even in the absence of pathogenic stimuli. Inflammation seen in patients with Blau syndrome might be due to an aberrant activation of NOD2 and constitutive NF-kappaB activation. Blau syndrome usually occurs in children younger than age 4 years.

UniProtKB/Swiss-Prot : 73 Blau syndrome: 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.

Wikipedia : 74 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 531)
# Related Disease Score Top Affiliating Genes
1 uveitis 31.3 TNF NOD2 IL4 IL1B IL10
2 sarcoidosis 1 31.0 TNF NOD2 IL1RN IL1B
3 multifocal choroiditis 31.0 TNF IL10
4 crohn's colitis 30.7 TNF NOD2 IL1B
5 tenosynovitis 30.4 TNF NOD2 IL1RN
6 cerebral palsy 30.4 TNF TLR4 IL4 IL1B IL10
7 wells syndrome 30.3 NLRP3 MEFV IL1B
8 rhinitis 30.3 TNF TLR4 IL4 IL1B IL10
9 systemic onset juvenile idiopathic arthritis 30.3 TNF IL1RN IL1B
10 measles 30.3 TNF TLR4 TLR2 IL1B
11 dermatitis 30.2 TNF NOD2 IL4 IL1B IL10
12 juvenile rheumatoid arthritis 30.2 TNF S100A12 IL1RN IL1B IL10
13 autoinflammatory syndrome 30.1 NLRP3 NLRP12 NLRC4
14 acute cystitis 30.1 TNF TLR4 TLR2 IL1B IL10
15 interstitial lung disease 30.1 TNF IL4 IL1B IL10
16 demyelinating disease 30.1 TNF IL4 IL1B IL10
17 keratitis, hereditary 30.0 TNF TLR4 TLR2 NLRP3 IL1B
18 aortitis 30.0 TNF IL1RN IL1B
19 hyper-igd syndrome 29.9 MVK IL1RN
20 contact dermatitis 29.8 TNF TLR4 TLR2 IL4 IL1B IL10
21 pre-eclampsia 29.8 TNF TLR4 IL4 IL1B IL10
22 exanthem 29.8 TNF NLRP3 MVK MEFV IL1RN IL1B
23 bacterial pneumonia 29.8 TNF TLR4 TLR2 S100A12 IL1B IL10
24 arthropathy 29.8 TNF NLRP3 IL1RN IL1B
25 inflammatory bowel disease 1 29.7 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
26 lung disease 29.7 TNF TLR4 TLR2 IL4 IL1B IL10
27 skin disease 29.7 TNF TLR2 IL4 IL1B IL10
28 neutropenia 29.6 TNF TLR4 IL1RN IL1B IL10
29 pericarditis 29.6 TNF MEFV IL1RN IL1B
30 dermatitis, atopic 29.6 TNF TLR4 TLR2 NOD2 IL4 IL1B
31 respiratory failure 29.5 TNF TLR4 IL1RN IL1B IL10
32 takayasu arteritis 29.5 TNF S100A12 IL1RN IL1B IL10
33 crohn's disease 29.4 TNF TLR4 TLR2 S100A12 NOD2 NOD1
34 salmonellosis 29.2 TNF TLR4 TLR2 NLRP3 NLRC4 IL1B
35 brucellosis 29.1 TNF TLR4 MEFV IL4 IL1RN IL10
36 toxoplasmosis 29.1 TNF TLR4 TLR2 NLRP1 IL4 IL1B
37 toxic shock syndrome 29.1 TNF TLR4 TLR2 IL4 IL1RN IL1B
38 eye disease 29.0 TNF TLR4 TLR2 IL4 IL1RN IL1B
39 bone inflammation disease 28.6 TNF TLR4 TLR2 NLRP3 IL4 IL1RN
40 autoimmune disease 28.6 TNF NLRP1 IL4 IL1RN IL1B IL10
41 pyoderma gangrenosum 28.6 TNF PSTPIP1 NOD2 NLRP3 MVK MEFV
42 psoriatic arthritis 28.5 TNF TLR4 TLR2 S100A12 NOD2 IL4
43 pyoderma 28.3 TNF PSTPIP1 NOD2 NLRP3 MVK MEFV
44 asthma 28.2 TNF TLR4 TLR2 NOD2 NOD1 NLRP3
45 proteasome-associated autoinflammatory syndrome 1 28.0 TNF TLR4 TLR2 NLRP3 MVK MEFV
46 rheumatoid arthritis 27.7 TNF TLR4 TLR2 S100A12 NLRP1 IL4
47 arthritis 27.2 TNF TLR4 TLR2 S100A12 PSTPIP1 NOD2
48 muckle-wells syndrome 26.3 TNF PSTPIP1 NOD2 NLRP3 NLRP12 NLRP1
49 familial mediterranean fever 26.3 TNF TLR4 TLR2 S100A12 PSTPIP1 NOD2
50 inflammatory bowel disease 25.7 TNF TLR4 TLR2 S100A12 RIPK2 PSTPIP1

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 31 (show top 50) (show all 59)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 skin rash 58 31 hallmark (90%) Very frequent (99-80%) HP:0000988
2 arthralgia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002829
3 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
4 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
5 joint swelling 58 31 hallmark (90%) Very frequent (99-80%) HP:0001386
6 keratitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000491
7 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
8 synovitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100769
9 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
10 posterior uveitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012123
11 polyarticular arthritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005764
12 iridocyclitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001094
13 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
14 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
15 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
16 dry skin 58 31 frequent (33%) Frequent (79-30%) HP:0000958
17 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
18 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
19 erythema nodosum 58 31 frequent (33%) Frequent (79-30%) HP:0012219
20 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
21 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
22 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
23 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
24 dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002094
25 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
26 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
27 xerostomia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000217
28 pericarditis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001701
29 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
30 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
31 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
32 abnormality of the liver 58 31 occasional (7.5%) Occasional (29-5%) HP:0001392
33 lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002716
34 retrobulbar optic neuritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100654
35 aortic aneurysm 58 31 occasional (7.5%) Occasional (29-5%) HP:0004942
36 visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000572
37 stage 5 chronic kidney disease 58 31 occasional (7.5%) Occasional (29-5%) HP:0003774
38 large vessel vasculitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0005310
39 clear cell renal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006770
40 abnormal choroid morphology 31 occasional (7.5%) HP:0000610
41 abnormal salivary gland morphology 31 occasional (7.5%) HP:0010286
42 abnormal retinal vascular morphology 31 occasional (7.5%) HP:0008046
43 abnormal cranial nerve morphology 58 31 Occasional (29-5%) HP:0001291
44 arthritis 31 HP:0001369
45 abnormality of the retinal vasculature 58 Occasional (29-5%)
46 uveitis 31 HP:0000554
47 eczema 31 HP:0000964
48 flexion contracture of toe 31 HP:0005830
49 abnormality of the choroid 58 Occasional (29-5%)
50 abnormality of the salivary glands 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 NOD2 RIPK2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 IL10 IL1B NLRC4 NLRP1 NLRP3 NOD1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 IL10 IL1B NLRP1 NLRP3 NOD1 TNF
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 IL10 IL1B NLRP1 NLRP3 NOD1 NOD2

MGI Mouse Phenotypes related to Blau Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.16 IL10 IL1B IL1RN IL4 MEFV NLRC4
2 cellular MP:0005384 10.14 IL10 IL1RN IL4 MEFV NLRC4 NLRP12
3 growth/size/body region MP:0005378 10.1 IL10 IL1B IL1RN IL4 MEFV MVK
4 immune system MP:0005387 10.06 IL10 IL1B IL1RN IL4 MEFV NLRC4
5 digestive/alimentary MP:0005381 10.02 IL10 IL4 NLRP12 NLRP3 NOD2 RIPK2
6 integument MP:0010771 9.61 IL10 IL1B IL1RN IL4 MEFV NLRP3
7 skeleton MP:0005390 9.4 IL10 IL1B IL1RN IL4 MEFV NLRC4

Drugs & Therapeutics for Blau Syndrome

Search Clinical Trials , NIH Clinical Center for Blau Syndrome

Genetic Tests for Blau Syndrome

Genetic tests related to Blau Syndrome:

# Genetic test Affiliating Genes
1 Blau Syndrome 29

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

40
Skin, Eye, Liver, Kidney, Retina, Lymph Node, Spleen

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(show top 50) (show all 261)
# Title Authors PMID Year
1
NOD2-associated diseases: Bridging innate immunity and autoinflammation. 56 6 61 54
19467619 2010
2
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 61 54 56 6
15459013 2005
3
CARD15 mutations in Blau syndrome. 61 54 56 6
11528384 2001
4
Leg ulcers: a new symptom of Blau syndrome? 6 56 61
18955195 2008
5
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. 56 6
15086578 2004
6
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. 56 6
9124059 1997
7
Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. 56 6
7825454 1994
8
A new CARD15 mutation in Blau syndrome. 6 61 54
15812565 2005
9
Blau syndrome: a new kindred. 61 56
12894082 2003
10
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. 56 61
9508240 1998
11
Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. 56 61
8900239 1996
12
Liver involvement in familial granulomatous arthritis (Blau syndrome). 61 56
8882056 1996
13
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. 56 61
8394645 1993
14
NOD2-associated autoinflammatory disease: a large cohort study. 6
26070941 2015
15
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. 6
23102769 2013
16
A new category of autoinflammatory disease associated with NOD2 gene mutations. 6
21914217 2011
17
Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations. 56
17698784 2007
18
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 6
15024686 2004
19
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. 6
14765395 2004
20
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. 6
12577202 2003
21
Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. 56
12470760 2002
22
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. 6
11875755 2002
23
Sarcoidosis: a pediatric perspective. 56
9864645 1998
24
Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts. 56
2391595 1990
25
Familial granulomatous arthritis, iritis, and rash. 56
4056967 1985
26
Familial granulomatous synovitis, uveitis, and cranial neuropathies. 56
3993660 1985
27
Familial granulomatous arteritis with polyarthritis of juvenile onset. 56
7053492 1982
28
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. 61 54
20052476 2010
29
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. 61 54
20084402 2010
30
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. 54 61
20199415 2010
31
Autoinflammatory syndromes behind the scenes of recurrent fevers in children. 61 54
19644432 2009
32
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. 61 54
19169908 2009
33
Nucleotide oligomerization domain-2 (NOD2)-induced uveitis: dependence on IFN-gamma. 61 54
19098321 2009
34
[Periodic fever syndrome/autoinflammatory syndrome]. 61 54
19255765 2009
35
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. 61 54
19180500 2009
36
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. 61 54
19822951 2009
37
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. 61 54
19116920 2009
38
Mutation screening of the CARD15 gene in sarcoidosis. 54 61
18384487 2008
39
Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis. 54 61
20298285 2007
40
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. 61 54
17916199 2007
41
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. 54 61
17968944 2007
42
Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene. 54 61
17719742 2007
43
The Nodosome: Nod1 and Nod2 control bacterial infections and inflammation. 54 61
17690884 2007
44
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. 61 54
17393391 2007
45
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. 54 61
17372104 2007
46
NOD2/CARD15 disease associations other than Crohn's disease. 54 61
17206682 2007
47
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. 54 61
17096091 2007
48
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. 54 61
17207093 2006
49
Pediatric granulomatous arthritis: an international registry. 61 54
17009307 2006
50
Sarcoidosis and NOD1 variation with impaired recognition of intracellular Propionibacterium acnes. 54 61
16935475 2006

Variations for Blau Syndrome

ClinVar genetic disease variations for Blau Syndrome:

6 (show top 50) (show all 317) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NOD2 NM_022162.3(NOD2):c.2032del (p.Leu678fs)deletion Pathogenic 638429 16:50745853-50745853 16:50711942-50711942
2 NOD2 NM_022162.3(NOD2):c.1001G>A (p.Arg334Gln)SNV Pathogenic 4694 rs104895461 16:50744823-50744823 16:50710912-50710912
3 NOD2 NM_022162.3(NOD2):c.1405C>T (p.Leu469Phe)SNV Pathogenic 4695 rs104895460 16:50745227-50745227 16:50711316-50711316
4 NOD2 NM_022162.3(NOD2):c.1000C>T (p.Arg334Trp)SNV Pathogenic 4696 rs104895462 16:50744822-50744822 16:50710911-50710911
5 NOD2 NM_022162.3(NOD2):c.1487A>T (p.His496Leu)SNV Pathogenic 4698 rs104895472 16:50745309-50745309 16:50711398-50711398
6 NOD2 NM_022162.3(NOD2):c.1146C>G (p.Asp382Glu)SNV Pathogenic 4699 rs104895476 16:50744968-50744968 16:50711057-50711057
7 NOD2 NM_022162.3(NOD2):c.1147G>A (p.Glu383Lys)SNV Pathogenic 4701 rs104895477 16:50744969-50744969 16:50711058-50711058
8 NOD2 NM_022162.3(NOD2):c.1538T>C (p.Met513Thr)SNV Pathogenic 97834 rs104895473 16:50745360-50745360 16:50711449-50711449
9 NOD2 NM_022162.3(NOD2):c.1759C>T (p.Arg587Cys)SNV Likely pathogenic 97838 rs104895479 16:50745581-50745581 16:50711670-50711670
10 NOD2 NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)duplication risk factor 4691 rs2066847 16:50763778-50763779 16:50729867-50729868
11 NOD2 NM_022162.3(NOD2):c.2722G>C (p.Gly908Arg)SNV risk factor 4692 rs2066845 16:50756540-50756540 16:50722629-50722629
12 NOD2 NM_022162.3(NOD2):c.2104C>T (p.Arg702Trp)SNV risk factor 4693 rs2066844 16:50745926-50745926 16:50712015-50712015
13 NOD2 NM_022162.3(NOD2):c.2555A>G (p.Asn852Ser)SNV risk factor 97856 rs104895467 16:50750810-50750810 16:50716899-50716899
14 NOD2 NM_022162.3(NOD2):c.2377G>A (p.Val793Met)SNV Conflicting interpretations of pathogenicity 97851 rs104895444 16:50746199-50746199 16:50712288-50712288
15 NOD2 NM_022162.3(NOD2):c.1509G>A (p.Glu503=)SNV Conflicting interpretations of pathogenicity 97833 rs104895434 16:50745331-50745331 16:50711420-50711420
16 NOD2 NM_022162.3(NOD2):c.2817T>C (p.Ile939=)SNV Conflicting interpretations of pathogenicity 97868 rs104895454 16:50757230-50757230 16:50723319-50723319
17 NOD2 NM_022162.3(NOD2):c.703C>T (p.Arg235Cys)SNV Conflicting interpretations of pathogenicity 97879 rs104895422 16:50744525-50744525 16:50710614-50710614
18 NOD2 NM_022162.3(NOD2):c.74-7T>ASNV Conflicting interpretations of pathogenicity 97880 rs104895421 16:50733392-50733392 16:50699481-50699481
19 NOD2 NM_022162.3(NOD2):c.413G>A (p.Arg138Gln)SNV Conflicting interpretations of pathogenicity 97877 rs104895456 16:50733738-50733738 16:50699827-50699827
20 NOD2 NM_022162.3(NOD2):c.881C>G (p.Thr294Ser)SNV Conflicting interpretations of pathogenicity 97883 rs104895425 16:50744703-50744703 16:50710792-50710792
21 NOD2 NM_022162.3(NOD2):c.1281G>A (p.Pro427=)SNV Conflicting interpretations of pathogenicity 97825 rs104895430 16:50745103-50745103 16:50711192-50711192
22 NOD2 NM_022162.3(NOD2):c.1292C>T (p.Ser431Leu)SNV Conflicting interpretations of pathogenicity 97826 rs104895431 16:50745114-50745114 16:50711203-50711203
23 NOD2 NM_022162.3(NOD2):c.1321G>A (p.Glu441Lys)SNV Conflicting interpretations of pathogenicity 97827 rs104895432 16:50745143-50745143 16:50711232-50711232
24 NOD2 NM_022162.3(NOD2):c.2138G>A (p.Arg713His)SNV Conflicting interpretations of pathogenicity 97844 rs104895483 16:50745960-50745960 16:50712049-50712049
25 NOD2 NM_022162.3(NOD2):c.2332G>A (p.Glu778Lys)SNV Conflicting interpretations of pathogenicity 97848 rs104895443 16:50746154-50746154 16:50712243-50712243
26 NOD2 NM_022162.3(NOD2):c.2371C>T (p.Arg791Trp)SNV Conflicting interpretations of pathogenicity 97849 rs104895484 16:50746193-50746193 16:50712282-50712282
27 NOD2 NM_022162.3(NOD2):c.484G>A (p.Val162Ile)SNV Conflicting interpretations of pathogenicity 319427 rs139571975 16:50733809-50733809 16:50699898-50699898
28 NOD2 NM_022162.3(NOD2):c.633C>T (p.Ala211=)SNV Conflicting interpretations of pathogenicity 319432 rs5743269 16:50741858-50741858 16:50707947-50707947
29 NOD2 NM_022162.3(NOD2):c.807G>A (p.Pro269=)SNV Conflicting interpretations of pathogenicity 319436 rs369766454 16:50744629-50744629 16:50710718-50710718
30 NOD2 NM_022162.3(NOD2):c.1981G>C (p.Ala661Pro)SNV Conflicting interpretations of pathogenicity 319455 rs369957746 16:50745803-50745803 16:50711892-50711892
31 NOD2 NM_022162.3(NOD2):c.2489G>A (p.Arg830Gln)SNV Conflicting interpretations of pathogenicity 319467 rs770915641 16:50750524-50750524 16:50716613-50716613
32 NOD2 NM_022162.3(NOD2):c.*8G>ASNV Conflicting interpretations of pathogenicity 103114 rs199475923 16:50765738-50765738 16:50731827-50731827
33 NOD2 NM_022162.3(NOD2):c.2107C>T (p.Arg703Cys)SNV Conflicting interpretations of pathogenicity 197333 rs5743277 16:50745929-50745929 16:50712018-50712018
34 NOD2 NM_022162.3(NOD2):c.931C>T (p.Arg311Trp)SNV Conflicting interpretations of pathogenicity 97885 rs104895427 16:50744753-50744753 16:50710842-50710842
35 NOD2 NM_022162.3(NOD2):c.2546C>T (p.Ala849Val)SNV Conflicting interpretations of pathogenicity 97855 rs104895486 16:50750581-50750581 16:50716670-50716670
36 NOD2 NM_022162.3(NOD2):c.274G>A (p.Val92Ile)SNV Conflicting interpretations of pathogenicity 319425 rs187264529 16:50733599-50733599 16:50699688-50699688
37 NOD2 NM_022162.3(NOD2):c.460G>A (p.Asp154Asn)SNV Conflicting interpretations of pathogenicity 319426 rs146054564 16:50733785-50733785 16:50699874-50699874
38 NOD2 NM_022162.3(NOD2):c.531G>A (p.Pro177=)SNV Conflicting interpretations of pathogenicity 319428 rs775281342 16:50733856-50733856 16:50699945-50699945
39 NOD2 NM_022162.3(NOD2):c.859C>T (p.His287Tyr)SNV Conflicting interpretations of pathogenicity 319439 rs560242309 16:50744681-50744681 16:50710770-50710770
40 NOD2 NM_022162.3(NOD2):c.875C>T (p.Ala292Val)SNV Conflicting interpretations of pathogenicity 319441 rs149338478 16:50744697-50744697 16:50710786-50710786
41 NOD2 NM_022162.3(NOD2):c.2147G>A (p.Arg716His)SNV Conflicting interpretations of pathogenicity 319460 rs200035357 16:50745969-50745969 16:50712058-50712058
42 NOD2 NM_022162.3(NOD2):c.2463-9T>ASNV Conflicting interpretations of pathogenicity 319466 rs201759367 16:50750489-50750489 16:50716578-50716578
43 NOD2 NM_022162.3(NOD2):c.*89C>TSNV Conflicting interpretations of pathogenicity 319476 rs184545855 16:50765819-50765819 16:50731908-50731908
44 NOD2 NM_022162.3(NOD2):c.566C>T (p.Thr189Met)SNV Conflicting interpretations of pathogenicity 319431 rs61755182 16:50741791-50741791 16:50707880-50707880
45 NOD2 NM_022162.3(NOD2):c.1634C>T (p.Pro545Leu)SNV Conflicting interpretations of pathogenicity 319448 rs777949388 16:50745456-50745456 16:50711545-50711545
46 NOD2 NM_022162.3(NOD2):c.1839C>T (p.Phe613=)SNV Conflicting interpretations of pathogenicity 319453 rs149870902 16:50745661-50745661 16:50711750-50711750
47 NOD2 NM_022162.3(NOD2):c.2003C>T (p.Pro668Leu)SNV Conflicting interpretations of pathogenicity 319456 rs5743275 16:50745825-50745825 16:50711914-50711914
48 NOD2 NM_022162.3(NOD2):c.3094G>A (p.Gly1032Ser)SNV Conflicting interpretations of pathogenicity 319475 rs147874812 16:50765701-50765701 16:50731790-50731790
49 NOD2 NM_022162.3(NOD2):c.828G>A (p.Leu276=)SNV Conflicting interpretations of pathogenicity 319437 rs763504952 16:50744650-50744650 16:50710739-50710739
50 NOD2 NM_022162.3(NOD2):c.841C>T (p.Leu281Phe)SNV Conflicting interpretations of pathogenicity 319438 rs756943416 16:50744663-50744663 16:50710752-50710752

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 KEGG:

36
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.97 TNF TLR4 TLR2 S100A12 RIPK2 PSTPIP1
2
Show member pathways
13.37 TNF RIPK2 NOD2 NOD1 IL4 IL1RN
3
Show member pathways
12.81 TNF TLR4 TLR2 NLRP3 IL1B
4
Show member pathways
12.64 TNF TLR4 TLR2 NOD2 IL4 IL1B
5
Show member pathways
12.6 TNF TLR4 TLR2 RIPK2 PSTPIP1 IL4
6
Show member pathways
12.58 S100A12 RIPK2 NOD2 NOD1 IL1B
7 12.49 TNF TLR2 RIPK2 NOD1 NLRP1 IL4
8 12.46 TNF TLR4 RIPK2 NOD1 NLRP3 NLRC4
9
Show member pathways
12.37 TNF TLR4 TLR2 RIPK2 NOD2 NOD1
10
Show member pathways
12.33 TNF TLR2 IL4 IL1B
11
Show member pathways
12.32 RIPK2 NOD2 NOD1 IL1RN IL1B
12
Show member pathways
12.32 TNF TLR4 TLR2 IL4 IL1B IL10
13 12.28 TNF TLR4 TLR2 RIPK2 NOD1 NLRP3
14 12.27 TNF TLR4 NLRP3 IL1B
15 12.26 TNF RIPK2 NOD1 NLRP1
16
Show member pathways
12.23 TNF TLR4 TLR2 IL4 IL1B
17 12.23 TNF TLR4 TLR2 RIPK2 NOD2 IL1B
18
Show member pathways
12.22 TNF NLRP3 IL1B IL10
19
Show member pathways
12.21 TNF TLR4 NLRP3 IL1B
20 12.19 TNF IL1RN IL1B IL10
21 12.05 TNF TLR4 NLRP3 MEFV IL1B IL10
22 12.03 TNF TLR4 IL4 IL1B
23
Show member pathways
12.02 TNF TLR4 TLR2 IL1B IL10
24 12.01 TNF IL4 IL1B IL10
25 11.99 TNF TLR4 TLR2 IL1B IL10
26
Show member pathways
11.92 RIPK2 PSTPIP1 NOD2 NOD1 NLRP3 NLRP1
27 11.91 TNF TLR4 TLR2 IL1B
28
Show member pathways
11.89 TLR4 TLR2 IL4 IL1B
29 11.83 TNF IL4 IL1B IL10
30 11.76 TNF TLR4 NOD1 NLRP3 IL1B IL10
31 11.74 TNF IL1B IL10
32 11.7 TNF TLR4 TLR2 NLRC4 IL1B
33 11.67 TNF IL4 IL1B
34 11.66 TNF TLR4 RIPK2 PSTPIP1 NOD2 NOD1
35 11.62 TNF TLR4 TLR2 IL1B IL10
36 11.6 TNF IL4 IL1RN IL1B IL10
37 11.59 TNF TLR4 RIPK2
38 11.59 TNF TLR4 TLR2 IL1B
39 11.44 TNF TLR4 IL1B IL10
40 11.42 RIPK2 NOD2 NOD1 NLRP3 NLRP12 NLRP1
41 11.41 RIPK2 NOD2 NOD1
42 11.41 TNF IL1B IL10
43 11.34 TNF IL4 IL1B
44 11.34 TNF IL4 IL1B IL10
45 11.22 TLR2 NLRP3 IL1B
46 11.18 TNF RIPK2 NOD2
47 11.15 TNF NLRP1 IL1B
48 10.78 IL4 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 cytoplasm GO:0005737 9.5 TLR4 TLR2 S100A12 RIPK2 PSTPIP1 NOD2
2 vesicle GO:0031982 9.26 RIPK2 NOD2 IL1RN IL1B
3 inflammasome complex GO:0061702 9.16 NLRP3 NLRP1

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

(show top 50) (show all 94)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.41 TLR4 TLR2 RIPK2 PSTPIP1 NOD1 NLRP3
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.33 TNF TLR4 TLR2 RIPK2 NOD2 NLRP3
3 apoptotic process GO:0006915 10.24 TLR2 RIPK2 NOD1 NLRP3 NLRP1 NLRC4
4 immune response GO:0006955 10.2 TNF TLR4 TLR2 IL4 IL1RN IL1B
5 positive regulation of gene expression GO:0010628 10.16 TNF TLR4 TLR2 IL4 IL1B
6 immune system process GO:0002376 10.14 TLR4 TLR2 S100A12 RIPK2 PSTPIP1 NOD2
7 cytokine-mediated signaling pathway GO:0019221 10.12 TNF IL4 IL1RN IL1B IL10
8 regulation of apoptotic process GO:0042981 10.11 RIPK2 NOD2 NOD1 NLRP1 NLRC4
9 positive regulation of ERK1 and ERK2 cascade GO:0070374 10.09 TNF TLR4 RIPK2 NOD2 NOD1
10 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 10.09 TNF TLR4 S100A12 RIPK2 NOD2 NOD1
11 innate immune response GO:0045087 10.06 TLR4 TLR2 S100A12 RIPK2 PSTPIP1 NOD2
12 negative regulation of inflammatory response GO:0050728 10.05 NLRP3 NLRP12 MVK MEFV IL4 IL10
13 response to lipopolysaccharide GO:0032496 10.04 TLR4 TLR2 IL1B IL10
14 cellular response to lipopolysaccharide GO:0071222 10.04 TNF TLR4 RIPK2 NOD2 NLRP3 IL1B
15 defense response GO:0006952 10.03 TNF NOD2 NOD1 NLRP3
16 defense response to Gram-positive bacterium GO:0050830 10.03 TNF TLR2 RIPK2 NOD1 NLRP3
17 activation of MAPK activity GO:0000187 10.03 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
18 defense response to bacterium GO:0042742 10.03 TNF TLR4 S100A12 NOD2 NOD1 NLRP1
19 interleukin-1-mediated signaling pathway GO:0070498 10.02 RIPK2 NOD2 NOD1 IL1RN IL1B
20 regulation of inflammatory response GO:0050727 10.02 TNF TLR4 NOD2 NLRP3 NLRP1
21 positive regulation of inflammatory response GO:0050729 10.01 TNF TLR4 TLR2 S100A12 NLRP12 IL1B
22 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 10 TNF NOD1 NLRP3 NLRP12 NLRP1 NLRC4
23 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.98 TNF NOD1 NLRP3 NLRP1
24 JNK cascade GO:0007254 9.97 TNF RIPK2 NOD2 NOD1
25 positive regulation of tumor necrosis factor production GO:0032760 9.97 TLR4 TLR2 RIPK2 NOD2 NOD1
26 positive regulation of interferon-gamma production GO:0032729 9.95 TNF TLR4 RIPK2 IL1B
27 positive regulation of JNK cascade GO:0046330 9.95 TNF TLR4 RIPK2 NOD2 NOD1 IL1B
28 neutrophil chemotaxis GO:0030593 9.94 S100A12 IL1B DPEP1
29 cellular response to organic cyclic compound GO:0071407 9.94 TNF NOD2 IL1B
30 positive regulation of interleukin-6 secretion GO:2000778 9.94 TNF TLR4 TLR2 IL1B
31 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.93 TNF TLR4 RIPK2
32 response to glucocorticoid GO:0051384 9.93 TNF IL1RN IL10
33 positive regulation of MAP kinase activity GO:0043406 9.93 TNF S100A12 NOD2
34 positive regulation of nitric oxide biosynthetic process GO:0045429 9.91 TNF TLR4 IL1B
35 positive regulation of interleukin-10 production GO:0032733 9.91 TLR4 TLR2 NOD2 IL4
36 lipopolysaccharide-mediated signaling pathway GO:0031663 9.91 TNF TLR4 TLR2 RIPK2 IL1B
37 negative regulation of interleukin-6 production GO:0032715 9.9 TNF TLR4 IL10
38 positive regulation of stress-activated MAPK cascade GO:0032874 9.9 TLR4 RIPK2 NOD2 NOD1
39 microglial cell activation GO:0001774 9.89 TNF TLR2 IL4
40 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.89 TNF NLRP12 IL1B
41 positive regulation of interferon-beta production GO:0032728 9.89 TLR4 TLR2 RIPK2
42 positive regulation of interleukin-12 production GO:0032735 9.88 TLR4 TLR2 RIPK2
43 positive regulation of cytokine production involved in inflammatory response GO:1900017 9.88 TNF TLR4 NOD2
44 positive regulation of chemokine production GO:0032722 9.88 TNF TLR4 TLR2 RIPK2
45 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.87 RIPK2 NOD2 NOD1
46 positive regulation of interleukin-1 beta production GO:0032731 9.87 NOD2 NOD1 NLRC4
47 positive regulation of interleukin-8 secretion GO:2000484 9.87 TNF TLR4 TLR2
48 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.86 TNF IL1B IL10
49 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.86 TLR4 TLR2 NOD2
50 positive regulation of chemokine biosynthetic process GO:0045080 9.86 TNF IL4 IL1B

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.16 TNF TLR4 TLR2 SPG7 S100A12 RIPK2
2 nucleotide binding GO:0000166 10.11 SPG7 RIPK2 NOD2 NOD1 NLRP3 NLRP12
3 ATP binding GO:0005524 10.06 SPG7 RIPK2 NOD2 NOD1 NLRP3 NLRP12
4 cytokine activity GO:0005125 9.83 TNF IL4 IL1RN IL1B IL10
5 identical protein binding GO:0042802 9.65 TNF TLR4 TLR2 RIPK2 PSTPIP1 NOD1
6 cysteine-type endopeptidase activator activity involved in apoptotic process GO:0008656 9.54 NOD1 NLRP12 NLRP1
7 CARD domain binding GO:0050700 9.5 RIPK2 NOD2 NOD1
8 caspase binding GO:0089720 9.49 RIPK2 NLRC4
9 lipopolysaccharide receptor activity GO:0001875 9.48 TLR4 TLR2
10 pattern recognition receptor activity GO:0038187 9.43 TLR2 NOD2 NOD1
11 peptidoglycan binding GO:0042834 8.92 TLR2 NOD2 NOD1 NLRP3

Sources for Blau Syndrome

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