BLAUS
MCID: BLS001
MIFTS: 59

Blau Syndrome (BLAUS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Blau Syndrome

MalaCards integrated aliases for Blau Syndrome:

Name: Blau Syndrome 58 12 54 26 76 38 30 13 56 6 15 41
Sarcoidosis, Early-Onset 58 76 38 30 13 6 41 74
Arthrocutaneouveal Granulomatosis 58 12 54 26 76
Jabs Syndrome 58 12 54 76
Granulomatous Inflammatory Arthritis, Dermatitis, and Uveitis, Familial 58 54 26
Acug 58 54 76
Granulomatosis, Familial Juvenile Systemic 58 54
Familial Juvenile Systemic Granulomatosis 26 76
Granulomatosis, Familial, Blau Type 58 54
Blaus 58 76
Eos 58 76
Familial Granulomatous Inflammatory Arthritis Dermatitis and Uveitis 76
Synovitis, Granulomatous, with Uveitis and Cranial Neuropathies 74
Synovitis Granulomatous with Uveitis and Cranial Neuropathies 54
Arthrocutaneouveal Granulomatosis; Acug 58
Familial Granulomatosis, Blau Type 26
Pediatric Granulomatous Arthritis 26
Familial Granulomatosis Blau Type 76
Sarcoidosis, Early-Onset; Eos 58
Early-Onset Sarcoidosis 26

Characteristics:

OMIM:

58
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:

33
blau syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blau Syndrome

OMIM : 58 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)

MalaCards based summary : Blau Syndrome, also known as sarcoidosis, early-onset, is related to arthritis 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 joint swelling and arthralgia

Disease Ontology : 12 An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has material basis in mutations in the NOD2/CARD15 genes.

Genetics Home Reference : 26 Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4.

NIH Rare Diseases : 54 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).

UniProtKB/Swiss-Prot : 76 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 : 77 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:

(showing 214, show less)
# Related Disease Score Top Affiliating Genes
1 arthritis 30.7 IL1B NOD2 TNF
2 sarcoidosis 1 30.7 IL1B NOD2 TNF
3 granulomatous dermatitis 30.6 NOD2 TNF
4 crohn's colitis 30.1 IL1B NOD2 TNF
5 systemic onset juvenile idiopathic arthritis 30.0 MEFV TNF
6 asthma 29.6 IL1B NLRP3 NOD1 TNF
7 familial mediterranean fever 28.4 IL1B MEFV MVK NLRP3 NOD2 TNF
8 craniolenticulosutural dysplasia 11.9
9 eosinophilia, familial 11.9
10 exogenous ochronosis 11.3
11 phenylketonuria 11.2
12 aural atresia, multiple congenital anomalies, and mental retardation 11.1
13 scoliosis 10.6
14 idiopathic scoliosis 10.5
15 scoliosis, isolated 1 10.5
16 uveitis 10.4
17 ileocolitis 10.3 NOD2 TNF
18 streptococcal meningitis 10.3 NOD2 TNF
19 orofacial granulomatosis 10.3 NOD2 TNF
20 trench fever 10.3 TLR2 TNF
21 hidradenitis suppurativa 10.3 NOD2 TNF
22 hidradenitis 10.3 NOD2 TNF
23 mesenteric lymphadenitis 10.3 NOD2 TLR2
24 penicilliosis 10.3 TLR2 TNF
25 exudative glomerulonephritis 10.3 IL1B TNF
26 nontuberculous mycobacterial lung disease 10.3 TLR2 TNF
27 melkersson-rosenthal syndrome 10.3 NOD2 TNF
28 staphylococcal toxic shock syndrome 10.3 IL1B TNF
29 hypersensitivity reaction type iv disease 10.3 NOD2 TNF
30 kashin-beck disease 10.3 IL1B TNF
31 burns 10.3 IL1B TNF
32 mycoplasma pneumoniae pneumonia 10.3 TLR2 TNF
33 glossitis 10.3 IL1B TNF
34 laryngitis 10.3 IL1B TNF
35 cerebral artery occlusion 10.3 IL1B TNF
36 opisthorchiasis 10.3 IL1B TNF
37 alveolar echinococcosis 10.3 TLR2 TNF
38 acute graft versus host disease 10.3 NOD2 TNF
39 echinococcosis 10.3 TLR2 TNF
40 retinitis pigmentosa 60 10.3 IL1B TNF
41 irritant dermatitis 10.3 IL1B TNF
42 acute vascular insufficiency of intestine 10.3 IL1B TNF
43 actinic prurigo 10.3 IL1B TNF
44 prosthetic joint infection 10.3 IL1B TLR2
45 tuberculous meningitis 10.3 TLR2 TNF
46 osteosclerotic myeloma 10.3 IL1B TNF
47 poems syndrome 10.3 IL1B TNF
48 autoimmune gastritis 10.2 IL1B TNF
49 central nervous system vasculitis 10.2 IL1B TNF
50 inflammatory bowel disease 9 10.2 NOD1 NOD2
51 periodontitis, chronic 10.2 IL1B TLR2
52 stachybotrys chartarum 10.2 IL1B TNF
53 lymphoproliferative syndrome, x-linked, 2 10.2 NOD1 NOD2
54 jejunoileitis 10.2 IL1B TNF
55 endometrial disease 10.2 IL1B TNF
56 rosacea 10.2 TLR2 TNF
57 dental pulp disease 10.2 IL1B TNF
58 eales disease 10.2 IL1B TNF
59 suppurative otitis media 10.2 IL1B TLR2
60 endometritis 10.2 IL1B TNF
61 inflammatory bowel disease 1 10.2 NOD1 NOD2
62 pulpitis 10.2 IL1B TNF
63 joint disorders 10.2 IL1B TNF
64 infective endocarditis 10.2 TLR2 TNF
65 lacrimal apparatus disease 10.2 IL1B TNF
66 commensal bacterial infectious disease 10.2 IL1B TNF
67 perinatal necrotizing enterocolitis 10.2 IL1B TNF
68 lepromatous leprosy 10.2 TLR2 TNF
69 dengue shock syndrome 10.2 IL1B TNF
70 complex regional pain syndrome 10.2 IL1B TNF
71 viral encephalitis 10.2 IL1B TNF
72 extrapulmonary tuberculosis 10.2 IL1B TLR2
73 keratoconjunctivitis sicca 10.2 IL1B TNF
74 prostate cancer 10.2
75 extrinsic cardiomyopathy 10.2 IL1B TNF
76 idiopathic neutropenia 10.2 IL1B TNF
77 uveal disease 10.2 NOD2 TNF
78 prostatitis 10.2 IL1B TNF
79 paracoccidioidomycosis 10.2 TLR2 TNF
80 pleural disease 10.2 IL1B TNF
81 opportunistic mycosis 10.2 TLR2 TNF
82 lymph node disease 10.2 IL1B TNF
83 acute respiratory distress syndrome 10.2 IL1B TNF
84 testicular disease 10.2 TLR2 TNF
85 autoimmune uveitis 10.2 IL1B TNF
86 mycobacterium kansasii 10.2 NLRP3 TLR2
87 chikungunya 10.2 IL1B TNF
88 familial cold autoinflammatory syndrome 10.2 IL1B NLRP3
89 intracranial hypertension 10.1 IL1B TNF
90 melioidosis 10.1 TLR2 TNF
91 conjunctival disease 10.1 NLRP3 TNF
92 vulvovaginal candidiasis 10.1 NLRP3 TLR2
93 schnitzler syndrome 10.1 IL1B NLRP3
94 spondylarthropathy 10.1 NOD2 TLR2 TNF
95 chronic recurrent multifocal osteomyelitis 10.1 IL1B NLRP3
96 ileitis 10.1 NOD2 TLR2 TNF
97 leprosy 3 10.1 NOD2 TLR2 TNF
98 crohn's disease 10.1
99 iritis 10.1
100 dermatitis 10.1
101 exanthem 10.1 NLRP3 TNF
102 colitis 10.1 IL1B NOD2 TNF
103 pyelonephritis 10.1 IL1B TNF
104 hypereosinophilic syndrome 10.1
105 lymphadenitis 10.1 IL1B NOD2 TNF
106 intestinal disease 10.1 IL1B NOD2 TNF
107 gastrointestinal system disease 10.1 IL1B NOD2 TNF
108 peptic ulcer disease 10.1 IL1B TNF
109 psoriatic arthritis 10.1 IL1B NOD2 TNF
110 ulcerative colitis 10.1 IL1B NOD2 TNF
111 autoinflammation, panniculitis, and dermatosis syndrome 10.1 MEFV TNF
112 mevalonic aciduria 10.1 MVK NLRP3
113 haemophilus influenzae 10.1 IL1B TLR2 TNF
114 juvenile ankylosing spondylitis 10.1 MEFV TNF
115 congenital cytomegalovirus 10.1 IL1B TLR2 TNF
116 periapical periodontitis 10.1 IL1B TLR2 TNF
117 periodontitis 10.1 IL1B TLR2 TNF
118 inflammatory bowel disease 3 10.1 NOD1 NOD2 TNF
119 primary systemic mycosis 10.1 IL1B TLR2 TNF
120 scrub typhus 10.1 IL1B TLR2 TNF
121 middle ear disease 10.1 IL1B TLR2 TNF
122 bacterial vaginosis 10.0 IL1B TLR2 TNF
123 leptospirosis 10.0 IL1B TLR2 TNF
124 legionellosis 10.0 IL1B TLR2 TNF
125 parasitic protozoa infectious disease 10.0 IL1B TLR2 TNF
126 lyme disease 10.0 IL1B TLR2 TNF
127 erysipelas 10.0 MEFV TNF
128 bacterial meningitis 10.0 IL1B TLR2 TNF
129 gingivitis 10.0 IL1B TLR2 TNF
130 chlamydia 10.0 IL1B TLR2 TNF
131 toxic shock syndrome 10.0 IL1B TLR2 TNF
132 toxoplasmosis 10.0 IL1B TLR2 TNF
133 otitis media 10.0 IL1B TLR2 TNF
134 trypanosomiasis 10.0 IL1B TLR2 TNF
135 proteasome-associated autoinflammatory syndrome 1 10.0 IL1B TLR2 TNF
136 chagas disease 10.0 IL1B TLR2 TNF
137 leishmaniasis 10.0 IL1B TLR2 TNF
138 periodontal disease 10.0 IL1B TLR2 TNF
139 appendicitis 10.0 IL1B TNF
140 pneumonia 10.0 IL1B TLR2 TNF
141 lung disease 10.0 IL1B TLR2 TNF
142 hypersensitivity reaction type iii disease 10.0 MEFV TNF
143 intestinal obstruction 10.0 MVK NOD2
144 hydrarthrosis 10.0 IL1B MEFV
145 pharyngitis 10.0 IL1B MEFV
146 hyper-igd syndrome 10.0
147 mycobacterium abscessus 10.0 NLRP3 TLR2 TNF
148 takayasu arteritis 10.0
149 retinal vasculitis 10.0
150 panuveitis 10.0
151 ichthyosis 10.0
152 juvenile rheumatoid arthritis 10.0
153 vasculitis 10.0
154 neuropathy 10.0
155 degos 'en cocarde' erythrokeratoderma 10.0
156 polykaryocytosis inducer 9.9
157 ichthyosis prematurity syndrome 9.9
158 cerebral palsy 9.9
159 hydrocephalus 9.9
160 spinal stenosis 9.9
161 salmonellosis 9.9
162 pre-eclampsia 9.9
163 sarcoma 9.9
164 eclampsia 9.9
165 severe acute respiratory syndrome 9.9
166 adenocarcinoma 9.9
167 breast adenocarcinoma 9.9
168 rhinitis 9.9
169 taylor's syndrome 9.9
170 hemophilia 9.9
171 congenital hydrocephalus 9.9
172 slipped capital femoral epiphysis 9.9
173 xp22.3 microdeletion syndrome 9.9
174 epiphysiolysis of the hip 9.9
175 vulvar vestibulitis syndrome 9.9 IL1B NLRP3 TNF
176 aseptic meningitis 9.9 IL1B NLRP3 TNF
177 silicosis 9.9 IL1B NLRP3 TNF
178 pneumoconiosis 9.9 IL1B NLRP3 TNF
179 bone inflammation disease 9.9 IL1B NLRP3 TNF
180 typhoid fever 9.9 IL1B TNF
181 erysipeloid 9.9 MEFV NLRP3
182 choroiditis 9.9
183 multifocal choroiditis 9.9
184 pleurisy 9.9 MEFV TNF
185 lig4 syndrome 9.9 NLRP3 NOD2
186 pyoderma 9.9 MEFV NOD2 TNF
187 q fever 9.9 IL1B NOD2 TLR2 TNF
188 brucellosis 9.8 MEFV TNF
189 rheumatoid arthritis 9.8
190 histiocytosis 9.8
191 aortitis 9.8
192 endosteal hyperostosis, autosomal dominant 9.8
193 stomatitis 9.8 IL1B MEFV TNF
194 adult-onset still's disease 9.8 IL1B MEFV TNF
195 palindromic rheumatism 9.8 IL1B MEFV TNF
196 pericarditis 9.8 IL1B MEFV TNF
197 neuritis 9.8 IL1B TNF
198 relapsing fever 9.8 MEFV MVK TNF
199 psoriatic juvenile idiopathic arthritis 9.7 MEFV NLRP3 NOD2
200 meningitis 9.7 IL1B NLRP3 TLR2 TNF
201 familial cold autoinflammatory syndrome 1 9.7 IL1B MEFV NLRP3
202 muckle-wells syndrome 9.7 IL1B MEFV NLRP3
203 wells syndrome 9.7 IL1B MEFV NLRP3
204 malaria 9.7 IL1B NLRP3 TLR2 TNF
205 behcet syndrome 9.6 IL1B MEFV NOD2 TNF
206 primary bacterial infectious disease 9.6 IL1B MEFV TLR2 TNF
207 peritonitis 9.6 IL1B MEFV TLR2 TNF
208 bacterial infectious disease 9.6 IL1B NOD1 NOD2 TLR2 TNF
209 inflammatory bowel disease 9.6 IL1B NOD1 NOD2 TLR2 TNF
210 periodic fever, familial, autosomal dominant 9.4 MEFV MVK NLRP3 TNF
211 cervical adenitis 9.4 IL1B MEFV MVK NLRP3
212 cinca syndrome 9.4 IL1B MEFV MVK NLRP3
213 aphthous stomatitis 9.2 IL1B MEFV NLRP3 TLR2 TNF
214 pyoderma gangrenosum 9.2 MEFV MVK NLRP3 NOD2 TNF

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:

33 (showing 54, show less)
# Description HPO Frequency HPO Source Accession
1 joint swelling 33 hallmark (90%) HP:0001386
2 arthralgia 33 hallmark (90%) HP:0002829
3 limitation of joint mobility 33 hallmark (90%) HP:0001376
4 keratitis 33 hallmark (90%) HP:0000491
5 erythema 33 hallmark (90%) HP:0010783
6 skin rash 33 hallmark (90%) HP:0000988
7 papule 33 hallmark (90%) HP:0200034
8 hyperpigmentation of the skin 33 hallmark (90%) HP:0000953
9 synovitis 33 hallmark (90%) HP:0100769
10 iridocyclitis 33 hallmark (90%) HP:0001094
11 polyarticular arthritis 33 hallmark (90%) HP:0005764
12 posterior uveitis 33 hallmark (90%) HP:0012123
13 cataract 33 frequent (33%) HP:0000518
14 photophobia 33 frequent (33%) HP:0000613
15 fever 33 frequent (33%) HP:0001945
16 dry skin 33 frequent (33%) HP:0000958
17 glaucoma 33 frequent (33%) HP:0000501
18 camptodactyly of finger 33 frequent (33%) HP:0100490
19 erythema nodosum 33 frequent (33%) HP:0012219
20 hypertension 33 occasional (7.5%) HP:0000822
21 facial palsy 33 occasional (7.5%) HP:0010628
22 splenomegaly 33 occasional (7.5%) HP:0001744
23 ichthyosis 33 occasional (7.5%) HP:0008064
24 nephropathy 33 occasional (7.5%) HP:0000112
25 retinopathy 33 occasional (7.5%) HP:0000488
26 dyspnea 33 occasional (7.5%) HP:0002094
27 anemia 33 occasional (7.5%) HP:0001903
28 pulmonary arterial hypertension 33 occasional (7.5%) HP:0002092
29 skin ulcer 33 occasional (7.5%) HP:0200042
30 visual loss 33 occasional (7.5%) HP:0000572
31 xerostomia 33 occasional (7.5%) HP:0000217
32 pericarditis 33 occasional (7.5%) HP:0001701
33 lymphadenopathy 33 occasional (7.5%) HP:0002716
34 abnormality of the liver 33 occasional (7.5%) HP:0001392
35 retrobulbar optic neuritis 33 occasional (7.5%) HP:0100654
36 stage 5 chronic kidney disease 33 occasional (7.5%) HP:0003774
37 aortic aneurysm 33 occasional (7.5%) HP:0004942
38 large vessel vasculitis 33 occasional (7.5%) HP:0005310
39 abnormal choroid morphology 33 occasional (7.5%) HP:0000610
40 abnormal salivary gland morphology 33 occasional (7.5%) HP:0010286
41 abnormal retinal vascular morphology 33 occasional (7.5%) HP:0008046
42 clear cell renal cell carcinoma 33 occasional (7.5%) HP:0006770
43 arthritis 33 HP:0001369
44 eczema 33 HP:0000964
45 flexion contracture of toe 33 HP:0005830
46 uveitis 33 HP:0000554
47 iritis 33 HP:0001101
48 abnormality of the ear 33 HP:0000598
49 band keratopathy 33 HP:0000585
50 cystoid macular edema 33 HP:0011505
51 intermittent generalized erythematous papular rash 33 HP:0007432
52 tendonitis 33 HP:0025230
53 abnormal cranial nerve morphology 33 HP:0001291
54 nongranulomatous uveitis 33 HP:0007813

Symptoms via clinical synopsis from OMIM:

58
Skeletal:
joint swelling
joint contractures
granulomatous synovitis
granulomatous arthritis
synovial cysts
more
Skeletal Hands:
camptodactyly
flexion contractures of the fingers

Skeletal Feet:
flexion contractures of the toes

Head And Neck Eyes:
glaucoma
uveitis
iritis
band keratopathy
cystoid macular edema
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:

27 (showing 2, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.62 IL1B NLRP3 NOD1 NOD2 TNF
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.62 IL1B NLRP3 NOD1 NOD2 TNF

MGI Mouse Phenotypes related to Blau Syndrome:

47 (showing 4, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.8 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
2 immune system MP:0005387 9.7 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
3 integument MP:0010771 9.35 IL1B MEFV NLRP3 TLR2 TNF
4 skeleton MP:0005390 9.1 IL1B MEFV NLRP3 NOD2 TLR2 TNF

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 30 NOD2
2 Sarcoidosis, Early-Onset 30

Anatomical Context for Blau Syndrome

MalaCards organs/tissues related to Blau Syndrome:

42
Skin, Eye, Liver, Lung, Kidney, Prostate, Salivary Gland

Publications for Blau Syndrome

Articles related to Blau Syndrome:

(showing 118, show less)
# Title Authors Year
1
A young female with early onset arthritis, uveitis, hepatic, and renal granulomas: a clinical tryst with Blau syndrome over 20 years and case-based review. ( 31062074 )
2019
2
S100A12 and vascular endothelial growth factor can differentiate Blau syndrome and familial Mediterranean fever from systemic juvenile idiopathic arthritis. ( 30406853 )
2019
3
Familial Blau syndrome:First molecularly confirmed report from India. ( 30574935 )
2019
4
Ocular Features in Chinese Patients with Blau Syndrome. ( 30806112 )
2019
5
Characterization of Blau syndrome panuveitis with wide-field fluorescein angiography. ( 30989150 )
2019
6
A Novel NOD2-associated Mutation and Variant Blau Syndrome: Phenotype and Molecular Analysis. ( 27419275 )
2018
7
A Novel Mutation in Helical Domain 2 of NOD2 in Sporadic Blau Syndrome. ( 27625029 )
2018
8
Pluripotent stem cell models of Blau syndrome reveal an IFN-γ-dependent inflammatory response in macrophages. ( 28587749 )
2018
9
Two Chinese pedigrees of Blau syndrome with thirteen affected members. ( 28721627 )
2018
10
Blau Syndrome-Associated Uveitis: Preliminary Results From an International Prospective Interventional Case Series. ( 28887115 )
2018
11
A sporadic case of granulomatous disease negative for NOD2 mutations and mimicking Blau syndrome. ( 29082556 )
2018
12
Blau syndrome with good Reponses to Tocilizumab: A case report and focused literature review. ( 29110911 )
2018
13
PERIVASCULAR GRANULOMATA IN THE RETINA DEMONSTRATED BY EN FACE OPTICAL COHERENCE TOMOGRAPHY IN A PATIENT WITH BLAU SYNDROME. ( 29210964 )
2018
14
The Challenge of Blau Syndrome. ( 29338849 )
2018
15
Familial Blau syndrome without uveitis caused by a novel mutation in the nucleotide-binding oligomerization domain-containing protein 2 gene with good response to infliximab. ( 29570830 )
2018
16
S100A12 and S100A8/9 proteins are biomarkers of articular disease activity in Blau syndrome. ( 29635517 )
2018
17
Uveitis in sporadic Blau syndrome: Long-term follow-up of a refractory case treated successfully with adalimumab. ( 30249847 )
2018
18
A Case of Sporadic Blau Syndrome with an Uncommon Clinical Course. ( 30693132 )
2018
19
A long-term follow-up of Japanese mother and her daughter with Blau syndrome: Effective treatment of anti-TNF inhibitors and useful diagnostic tool of joint ultrasound examination. ( 25381727 )
2017
20
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant. ( 27304707 )
2017
21
Blau Syndrome: A Systemic Granulomatous Disease of Cutaneous Onset and Phenotypic Complexity. ( 27874205 )
2017
22
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome. ( 28532706 )
2017
23
Tumor Necrosis Factor Inhibitors Provide Longterm Clinical Benefits in Pediatric and Young Adult Patients with Blau Syndrome. ( 28604349 )
2017
24
Gene mutations and clinical phenotypes in Chinese children with Blau syndrome. ( 28639104 )
2017
25
Oral Macrolides for the Dermatologic Manifestations of Blau Syndrome. ( 28724114 )
2017
26
Co-existence of Blau syndrome and NAID? Diagnostic challenges associated with presence of multiple pathogenic variants in NOD2 gene: a case report. ( 28750667 )
2017
27
A novel nucleotide oligomerisation domain 2 mutation in a family with Blau syndrome: Phenotype and function. ( 28836875 )
2017
28
Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism. ( 26606664 )
2016
29
Intractable leg ulcers in Blau syndrome. ( 26969879 )
2016
30
A Case of Blau Syndrome with NOD2 E383K Mutation. ( 27339507 )
2016
31
Nod2-Nodosome in a Cell-Free System: Implications in Pathogenesis and Drug Discovery for Blau Syndrome and Early-Onset Sarcoidosis. ( 27403452 )
2016
32
A familial case of Blau syndrome caused by a novel NOD2 genetic mutation. ( 28018435 )
2016
33
Optic nerve and retinal features in uveitis associated with juvenile systemic granulomatous disease (Blau syndrome). ( 25209167 )
2015
34
Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. ( 25416713 )
2015
35
Blau syndrome-associated Nod2 mutation alters expression of full-length NOD2 and limits responses to muramyl dipeptide in knock-in mice. ( 25429073 )
2015
36
A new mutation in blau syndrome. ( 25692065 )
2015
37
Somatic NOD2 mosaicism in Blau syndrome. ( 25724124 )
2015
38
Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. ( 25829188 )
2015
39
Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn's disease. ( 26509073 )
2015
40
Role of NOD2 Pathway Genes in Sarcoidosis Cases with Clinical Characteristics of Blau Syndrome. ( 26517420 )
2015
41
Exacerbation of symptoms in Blau syndrome/early-onset sarcoidosis following delivery. ( 26712281 )
2015
42
NOD2-associated autoinflammatory disease: a large cohort study. ( 26070941 )
2015
43
Blau syndrome and latent tubercular infection: an unresolved partnership. ( 24646037 )
2014
44
Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. ( 24713464 )
2014
45
A case of blau syndrome. ( 24876985 )
2014
46
Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. ( 25093298 )
2014
47
Blau syndrome, the prototypic auto-inflammatory granulomatous disease. ( 25136265 )
2014
48
Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. ( 25182201 )
2014
49
A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? ( 22821420 )
2013
50
Clinical and transcriptional response to the long-acting interleukin-1 blocker canakinumab in Blau syndrome-related uveitis. ( 23124805 )
2013
51
Retinal vasculitis, aneurysms, and neovascularization in Blau syndrome. ( 23699845 )
2013
52
Preferentially inflamed tendon sheaths in the swollen but not tender joints in a 5-year-old boy with Blau syndrome. ( 23896186 )
2013
53
Blau syndrome-associated uveitis and the NOD2 gene. ( 24010719 )
2013
54
[The present and the prospect of study on Blau syndrome/early-onset sarcoidosis]. ( 23678609 )
2013
55
Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. ( 23102769 )
2013
56
Morphologic and immunohistochemical characterization of granulomas in the nucleotide oligomerization domain 2-related disorders Blau syndrome and Crohn disease. ( 22464675 )
2012
57
NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. ( 22509093 )
2012
58
Blau syndrome, clinical and genetic aspects. ( 22884558 )
2012
59
Immunohistochemical evidence of specific iris involvement in Blau syndrome. ( 23215732 )
2012
60
Blau syndrome. ( 20947513 )
2011
61
Immunophenotyping in peripheral blood mononuclear cells, aqueous humour and vitreous in a Blau syndrome patient caused by a novel NOD2 mutation. ( 21320290 )
2011
62
Uveitis in Blau syndrome from a de novo mutation of the NOD2/CARD15 gene. ( 21596301 )
2011
63
Blau syndrome revisited. ( 21788900 )
2011
64
Miscellaneous non-inflammatory musculoskeletal conditions. Blau syndrome. ( 22142748 )
2011
65
Etanercept-induced myelopathy in a pediatric case of blau syndrome. ( 22937436 )
2011
66
A new category of autoinflammatory disease associated with NOD2 gene mutations. ( 21914217 )
2011
67
[Early-onset sarcoidosis/Blau syndrome]. ( 22041425 )
2011
68
Thalidomide dramatically improves the symptoms of early-onset sarcoidosis/Blau syndrome: its possible action and mechanism. ( 20039400 )
2010
69
Altered cytokine profiles of mononuclear cells after stimulation in a patient with Blau syndrome. ( 20052476 )
2010
70
Co-existence of chronic renal failure, renal clear cell carcinoma, and Blau syndrome. ( 20084402 )
2010
71
Sporadic Blau syndrome with onset of widespread granulomatous dermatitis in the newborn period. ( 20199415 )
2010
72
Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. ( 20565245 )
2010
73
Detection of Mycobacterium avium ss. Paratuberculosis in Blau Syndrome Tissues. ( 21152214 )
2010
74
NOD2-associated diseases: Bridging innate immunity and autoinflammation. ( 19467619 )
2010
75
Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. ( 18718560 )
2009
76
Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis. ( 19116920 )
2009
77
A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members. ( 19169908 )
2009
78
The NOD2 defect in Blau syndrome does not result in excess interleukin-1 activity. ( 19180500 )
2009
79
Interleukin-1beta suppression in Blau syndrome: comment on the article by Martin et al. ( 19644875 )
2009
80
Blau syndrome-related CARD15/NOD2 mutations are not linked to idiopathic uveitis in Spanish patients. ( 19822951 )
2009
81
Two pediatric cases of Blau syndrome. ( 20040255 )
2009
82
Leg ulcers: a new symptom of Blau syndrome? ( 18955195 )
2008
83
Altered host:pathogen interactions conferred by the Blau syndrome mutation of NOD2. ( 17096091 )
2007
84
Widespread granulomatous dermatitis of infancy: an early sign of Blau syndrome. ( 17372104 )
2007
85
Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15. ( 17393391 )
2007
86
A sporadic case of early-onset sarcoidosis resembling Blau syndrome due to the recurrent R334W missense mutation on the NOD2 gene. ( 17916199 )
2007
87
Central nervous system involvement in Blau syndrome: a new feature of the syndrome? ( 18061972 )
2007
88
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. ( 20298285 )
2007
89
Blau syndrome associated with a CARD15/NOD2 mutation. ( 17157607 )
2006
90
Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. ( 17207093 )
2006
91
Blau syndrome presenting with ichthyosis. ( 15670175 )
2005
92
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. ( 15693102 )
2005
93
A new CARD15 mutation in Blau syndrome. ( 15812565 )
2005
94
Blau syndrome and related genetic disorders causing childhood arthritis. ( 16303101 )
2005
95
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. ( 15459013 )
2005
96
Bupropion for Blau syndrome. ( 14962643 )
2004
97
Blau syndrome. ( 15051234 )
2004
98
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. ( 15554080 )
2004
99
Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. ( 15024686 )
2004
100
Failure to replicate the association of the novel NOD2/CARD15 haplotype (S268P-JW1) to Crohn's disease in the Jewish Israeli population. ( 14765395 )
2004
101
Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. ( 15086578 )
2004
102
Blau syndrome: a new kindred. ( 12894082 )
2003
103
Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. ( 14522785 )
2003
104
A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. ( 12577202 )
2003
105
Evaluation of Th-1 and Th-2 immune responses in the skin lesions of patients with Blau syndrome. ( 12051637 )
2002
106
High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus. ( 12186634 )
2002
107
CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. ( 12428248 )
2002
108
CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. ( 11875755 )
2002
109
CARD15 mutations in Blau syndrome. ( 11528384 )
2001
110
Blau syndrome (familial granulomatous arthritis, iritis, and rash) in an african-american family. ( 19078446 )
2000
111
The Blau syndrome gene is not a major risk factor for sarcoidosis. ( 10560124 )
1999
112
Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature. ( 9508240 )
1998
113
Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. ( 9738733 )
1998
114
Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis. ( 9124059 )
1997
115
Liver involvement in familial granulomatous arthritis (Blau syndrome). ( 8882056 )
1996
116
Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases. ( 7825454 )
1994
117
Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. ( 8394645 )
1993
118
Blau syndrome versus sarcoidosis. ( 1880674 )
1991

Variations for Blau Syndrome

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

76 (showing 11, show less)
# 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

ClinVar genetic disease variations for Blau Syndrome:

6 (showing 427, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh38 Chromosome 16, 50729870: 50729870
2 NOD2 NM_022162.2(NOD2): c.3019dupC (p.Leu1007Profs) duplication risk factor rs2066847 GRCh37 Chromosome 16, 50763781: 50763781
3 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh37 Chromosome 16, 50756540: 50756540
4 NOD2 NM_022162.2(NOD2): c.2722G> C (p.Gly908Arg) single nucleotide variant risk factor rs2066845 GRCh38 Chromosome 16, 50722629: 50722629
5 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh37 Chromosome 16, 50745926: 50745926
6 NOD2 NM_022162.2(NOD2): c.2104C> T (p.Arg702Trp) single nucleotide variant risk factor rs2066844 GRCh38 Chromosome 16, 50712015: 50712015
7 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh37 Chromosome 16, 50744823: 50744823
8 NOD2 NM_022162.2(NOD2): c.1001G> A (p.Arg334Gln) single nucleotide variant Pathogenic rs104895461 GRCh38 Chromosome 16, 50710912: 50710912
9 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh37 Chromosome 16, 50745227: 50745227
10 NOD2 NM_022162.2(NOD2): c.1405C> T (p.Leu469Phe) single nucleotide variant Pathogenic rs104895460 GRCh38 Chromosome 16, 50711316: 50711316
11 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh37 Chromosome 16, 50744822: 50744822
12 NOD2 NM_022162.2(NOD2): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs104895462 GRCh38 Chromosome 16, 50710911: 50710911
13 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh37 Chromosome 16, 50756774: 50756774
14 NOD2 NM_022162.2(NOD2): c.2798+158C> T single nucleotide variant Pathogenic,risk factor rs5743289 GRCh38 Chromosome 16, 50722863: 50722863
15 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh37 Chromosome 16, 50745309: 50745309
16 NOD2 NM_022162.2(NOD2): c.1487A> T (p.His496Leu) single nucleotide variant Pathogenic rs104895472 GRCh38 Chromosome 16, 50711398: 50711398
17 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh37 Chromosome 16, 50744968: 50744968
18 NOD2 NM_022162.2(NOD2): c.1146C> G (p.Asp382Glu) single nucleotide variant Pathogenic rs104895476 GRCh38 Chromosome 16, 50711057: 50711057
19 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh37 Chromosome 16, 50745656: 50745656
20 NOD2 NM_022162.2(NOD2): c.1834G> A (p.Ala612Thr) single nucleotide variant Likely benign rs104895438 GRCh38 Chromosome 16, 50711745: 50711745
21 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh37 Chromosome 16, 50744969: 50744969
22 NOD2 NM_022162.2(NOD2): c.1147G> A (p.Glu383Lys) single nucleotide variant Pathogenic rs104895477 GRCh38 Chromosome 16, 50711058: 50711058
23 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 NCBI36 Chromosome 16, 49302689: 49302689
24 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 GRCh37 Chromosome 16, 50745188: 50745188
25 NOD2 NM_022162.2(NOD2): c.1366C> T (p.Leu456=) single nucleotide variant not provided rs104895433 GRCh38 Chromosome 16, 50711277: 50711277
26 NOD2 NM_022162.2(NOD2): c.*9G> A single nucleotide variant not provided rs104895459 GRCh37 Chromosome 16, 50765739: 50765739
27 NOD2 NM_022162.2(NOD2): c.*9G> A single nucleotide variant not provided rs104895459 GRCh38 Chromosome 16, 50731828: 50731828
28 NOD2 NM_022162.2(NOD2): c.1042C> G (p.Leu348Val) single nucleotide variant not provided rs104895428 GRCh37 Chromosome 16, 50744864: 50744864
29 NOD2 NM_022162.2(NOD2): c.1042C> G (p.Leu348Val) single nucleotide variant not provided rs104895428 GRCh38 Chromosome 16, 50710953: 50710953
30 NOD2 NM_022162.2(NOD2): c.1065G> A (p.Trp355Ter) single nucleotide variant not provided rs104895488 GRCh37 Chromosome 16, 50744887: 50744887
31 NOD2 NM_022162.2(NOD2): c.1065G> A (p.Trp355Ter) single nucleotide variant not provided rs104895488 GRCh38 Chromosome 16, 50710976: 50710976
32 NOD2 NM_022162.2(NOD2): c.1070A> C (p.Asp357Ala) single nucleotide variant not provided rs104895469 GRCh37 Chromosome 16, 50744892: 50744892
33 NOD2 NM_022162.2(NOD2): c.1070A> C (p.Asp357Ala) single nucleotide variant not provided rs104895469 GRCh38 Chromosome 16, 50710981: 50710981
34 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh37 Chromosome 16, 50744909: 50744909
35 NOD2 NM_022162.2(NOD2): c.1087A> T (p.Ile363Phe) single nucleotide variant Uncertain significance rs104895470 GRCh38 Chromosome 16, 50710998: 50710998
36 NOD2 NM_022162.2(NOD2): c.113G> T (p.Arg38Met) single nucleotide variant not provided rs104895487 GRCh37 Chromosome 16, 50733438: 50733438
37 NOD2 NM_022162.2(NOD2): c.113G> T (p.Arg38Met) single nucleotide variant not provided rs104895487 GRCh38 Chromosome 16, 50699527: 50699527
38 NOD2 NM_022162.2(NOD2): c.1148A> G (p.Glu383Gly) single nucleotide variant not provided rs104895493 GRCh37 Chromosome 16, 50744970: 50744970
39 NOD2 NM_022162.2(NOD2): c.1148A> G (p.Glu383Gly) single nucleotide variant not provided rs104895493 GRCh38 Chromosome 16, 50711059: 50711059
40 NOD2 NM_022162.2(NOD2): c.1171C> T (p.Arg391Cys) single nucleotide variant not provided rs104895481 GRCh37 Chromosome 16, 50744993: 50744993
41 NOD2 NM_022162.2(NOD2): c.1171C> T (p.Arg391Cys) single nucleotide variant not provided rs104895481 GRCh38 Chromosome 16, 50711082: 50711082
42 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh37 Chromosome 16, 50745063: 50745063
43 NOD2 NM_022162.2(NOD2): c.1241A> G (p.Asn414Ser) single nucleotide variant Uncertain significance rs104895429 GRCh38 Chromosome 16, 50711152: 50711152
44 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh37 Chromosome 16, 50745103: 50745103
45 NOD2 NM_022162.2(NOD2): c.1281G> A (p.Pro427=) single nucleotide variant Conflicting interpretations of pathogenicity rs104895430 GRCh38 Chromosome 16, 50711192: 50711192
46 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh37 Chromosome 16, 50745114: 50745114
47 NOD2 NM_022162.2(NOD2): c.1292C> T (p.Ser431Leu) single nucleotide variant Likely benign rs104895431 GRCh38 Chromosome 16, 50711203: 50711203
48 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh37 Chromosome 16, 50745143: 50745143
49 NOD2 NM_022162.2(NOD2): c.1321G> A (p.Glu441Lys) single nucleotide variant Uncertain significance rs104895432 GRCh38 Chromosome 16, 50711232: 50711232
50 NOD2 NM_022162.2(NOD2): c.1387C> G (p.Pro463Ala) single nucleotide variant not provided rs104895482 GRCh37 Chromosome 16, 50745209: 50745209
51 NOD2 NM_022162.2(NOD2): c.1387C> G (p.Pro463Ala) single nucleotide variant not provided rs104895482 GRCh38 Chromosome 16, 50711298: 50711298
52 NOD2 NM_022162.2(NOD2): c.1390G> T (p.Gly464Trp) single nucleotide variant not provided rs104895492 GRCh37 Chromosome 16, 50745212: 50745212
53 NOD2 NM_022162.2(NOD2): c.1390G> T (p.Gly464Trp) single nucleotide variant not provided rs104895492 GRCh38 Chromosome 16, 50711301: 50711301
54 NOD2 NM_022162.2(NOD2): c.1442G> A (p.Gly481Asp) single nucleotide variant not provided rs104895494 GRCh37 Chromosome 16, 50745264: 50745264
55 NOD2 NM_022162.2(NOD2): c.1442G> A (p.Gly481Asp) single nucleotide variant not provided rs104895494 GRCh38 Chromosome 16, 50711353: 50711353
56 NOD2 NM_022162.2(NOD2): c.1469G> T (p.Trp490Leu) single nucleotide variant not provided rs104895480 GRCh37 Chromosome 16, 50745291: 50745291
57 NOD2 NM_022162.2(NOD2): c.1469G> T (p.Trp490Leu) single nucleotide variant not provided rs104895480 GRCh38 Chromosome 16, 50711380: 50711380
58 NOD2 NM_022162.2(NOD2): c.1484G> A (p.Cys495Tyr) single nucleotide variant not provided rs104895478 GRCh37 Chromosome 16, 50745306: 50745306
59 NOD2 NM_022162.2(NOD2): c.1484G> A (p.Cys495Tyr) single nucleotide variant not provided rs104895478 GRCh38 Chromosome 16, 50711395: 50711395
60 NOD2 NM_022162.2(NOD2): c.1509G> A (p.Glu503=) single nucleotide variant Uncertain significance rs104895434 GRCh37 Chromosome 16, 50745331: 50745331
61 NOD2 NM_022162.2(NOD2): c.1509G> A (p.Glu503=) single nucleotide variant Uncertain significance rs104895434 GRCh38 Chromosome 16, 50711420: 50711420
62 NOD2 NM_022162.2(NOD2): c.1538T> C (p.Met513Thr) single nucleotide variant not provided rs104895473 GRCh37 Chromosome 16, 50745360: 50745360
63 NOD2 NM_022162.2(NOD2): c.1538T> C (p.Met513Thr) single nucleotide variant not provided rs104895473 GRCh38 Chromosome 16, 50711449: 50711449
64 NOD2 NM_022162.2(NOD2): c.1581C> G (p.Pro527=) single nucleotide variant not provided rs104895435 GRCh37 Chromosome 16, 50745403: 50745403
65 NOD2 NM_022162.2(NOD2): c.1581C> G (p.Pro527=) single nucleotide variant not provided rs104895435 GRCh38 Chromosome 16, 50711492: 50711492
66 NOD2 NM_022162.2(NOD2): c.74-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs104895421 GRCh37 Chromosome 16, 50733392: 50733392
67 NOD2 NM_022162.2(NOD2): c.74-7T> A single nucleotide variant Conflicting interpretations of pathogenicity rs104895421 GRCh38 Chromosome 16, 50699481: 50699481
68 NOD2 NM_022162.2(NOD2): c.743T> G (p.Leu248Arg) single nucleotide variant Benign rs104895423 GRCh37 Chromosome 16, 50744565: 50744565
69 NOD2 NM_022162.2(NOD2): c.743T> G (p.Leu248Arg) single nucleotide variant Benign rs104895423 GRCh38 Chromosome 16, 50710654: 50710654
70 NOD2 NM_022162.2(NOD2): c.871G> A (p.Asp291Asn) single nucleotide variant not provided rs104895424 GRCh37 Chromosome 16, 50744693: 50744693
71 NOD2 NM_022162.2(NOD2): c.871G> A (p.Asp291Asn) single nucleotide variant not provided rs104895424 GRCh38 Chromosome 16, 50710782: 50710782
72 NOD2 NM_022162.2(NOD2): c.881C> G (p.Thr294Ser) single nucleotide variant Likely benign rs104895425 GRCh37 Chromosome 16, 50744703: 50744703
73 NOD2 NM_022162.2(NOD2): c.881C> G (p.Thr294Ser) single nucleotide variant Likely benign rs104895425 GRCh38 Chromosome 16, 50710792: 50710792
74 NOD2 NM_022162.2(NOD2): c.902C> T (p.Ala301Val) single nucleotide variant not provided rs104895426 GRCh37 Chromosome 16, 50744724: 50744724
75 NOD2 NM_022162.2(NOD2): c.902C> T (p.Ala301Val) single nucleotide variant not provided rs104895426 GRCh38 Chromosome 16, 50710813: 50710813
76 NOD2 NM_022162.2(NOD2): c.931C> T (p.Arg311Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895427 GRCh37 Chromosome 16, 50744753: 50744753
77 NOD2 NM_022162.2(NOD2): c.931C> T (p.Arg311Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs104895427 GRCh38 Chromosome 16, 50710842: 50710842
78 NOD2 NM_022162.2(NOD2): c.357G> T (p.Leu119=) single nucleotide variant not provided rs672601267 GRCh38 Chromosome 16, 50699771: 50699771
79 NOD2 NM_022162.2(NOD2): c.1117C> T (p.Arg373Cys) single nucleotide variant not provided rs145293873 GRCh37 Chromosome 16, 50744939: 50744939
80 NOD2 NM_022162.2(NOD2): c.1117C> T (p.Arg373Cys) single nucleotide variant not provided rs145293873 GRCh38 Chromosome 16, 50711028: 50711028
81 NOD2 NM_022162.2(NOD2): c.357G> T (p.Leu119=) single nucleotide variant not provided rs672601267 GRCh37 Chromosome 16, 50733682: 50733682
82 NOD2 NM_022162.2(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs5743277 GRCh37 Chromosome 16, 50745929: 50745929
83 NOD2 NM_022162.2(NOD2): c.2107C> T (p.Arg703Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs5743277 GRCh38 Chromosome 16, 50712018: 50712018
84 NOD2 NM_022162.2(NOD2): c.-59G> A single nucleotide variant Benign rs2076752 GRCh38 Chromosome 16, 50697185: 50697185
85 NOD2 NM_022162.2(NOD2): c.-59G> A single nucleotide variant Benign rs2076752 GRCh37 Chromosome 16, 50731096: 50731096
86 NOD2 NM_022162.2(NOD2): c.484G> A (p.Val162Ile) single nucleotide variant Likely benign rs139571975 GRCh38 Chromosome 16, 50699898: 50699898
87 NOD2 NM_022162.2(NOD2): c.484G> A (p.Val162Ile) single nucleotide variant Likely benign rs139571975 GRCh37 Chromosome 16, 50733809: 50733809
88 NOD2 NM_022162.2(NOD2): c.633C> T (p.Ala211=) single nucleotide variant Likely benign rs5743269 GRCh38 Chromosome 16, 50707947: 50707947
89 NOD2 NM_022162.2(NOD2): c.633C> T (p.Ala211=) single nucleotide variant Likely benign rs5743269 GRCh37 Chromosome 16, 50741858: 50741858
90 NOD2 NM_022162.2(NOD2): c.807G> A (p.Pro269=) single nucleotide variant Conflicting interpretations of pathogenicity rs369766454 GRCh37 Chromosome 16, 50744629: 50744629
91 NOD2 NM_022162.2(NOD2): c.807G> A (p.Pro269=) single nucleotide variant Conflicting interpretations of pathogenicity rs369766454 GRCh38 Chromosome 16, 50710718: 50710718
92 NOD2 NM_022162.2(NOD2): c.1981G> C (p.Ala661Pro) single nucleotide variant Uncertain significance rs369957746 GRCh38 Chromosome 16, 50711892: 50711892
93 NOD2 NM_022162.2(NOD2): c.1981G> C (p.Ala661Pro) single nucleotide variant Uncertain significance rs369957746 GRCh37 Chromosome 16, 50745803: 50745803
94 NOD2 NM_022162.2(NOD2): c.2489G> A (p.Arg830Gln) single nucleotide variant Uncertain significance rs770915641 GRCh38 Chromosome 16, 50716613: 50716613
95 NOD2 NM_022162.2(NOD2): c.2489G> A (p.Arg830Gln) single nucleotide variant Uncertain significance rs770915641 GRCh37 Chromosome 16, 50750524: 50750524
96 NOD2 NM_022162.2(NOD2): c.*462C> A single nucleotide variant Uncertain significance rs562972090 GRCh38 Chromosome 16, 50732281: 50732281
97 NOD2 NM_022162.2(NOD2): c.*620G> A single nucleotide variant Likely benign rs116213743 GRCh37 Chromosome 16, 50766350: 50766350
98 NOD2 NM_022162.2(NOD2): c.*620G> A single nucleotide variant Likely benign rs116213743 GRCh38 Chromosome 16, 50732439: 50732439
99 NOD2 NM_022162.2(NOD2): c.-53C> T single nucleotide variant Likely benign rs188341692 GRCh38 Chromosome 16, 50697191: 50697191
100 NOD2 NM_022162.2(NOD2): c.-53C> T single nucleotide variant Likely benign rs188341692 GRCh37 Chromosome 16, 50731102: 50731102
101 NOD2 NM_022162.2(NOD2): c.-14C> T single nucleotide variant Likely benign rs117611225 GRCh38 Chromosome 16, 50697230: 50697230
102 NOD2 NM_022162.2(NOD2): c.-14C> T single nucleotide variant Likely benign rs117611225 GRCh37 Chromosome 16, 50731141: 50731141
103 NOD2 NM_022162.2(NOD2): c.52G> A (p.Val18Ile) single nucleotide variant Uncertain significance rs886052043 GRCh38 Chromosome 16, 50697295: 50697295
104 NOD2 NM_022162.2(NOD2): c.52G> A (p.Val18Ile) single nucleotide variant Uncertain significance rs886052043 GRCh37 Chromosome 16, 50731206: 50731206
105 NOD2 NM_022162.2(NOD2): c.274G> A (p.Val92Ile) single nucleotide variant Likely benign rs187264529 GRCh38 Chromosome 16, 50699688: 50699688
106 NOD2 NM_022162.2(NOD2): c.274G> A (p.Val92Ile) single nucleotide variant Likely benign rs187264529 GRCh37 Chromosome 16, 50733599: 50733599
107 NOD2 NM_022162.2(NOD2): c.460G> A (p.Asp154Asn) single nucleotide variant Likely benign rs146054564 GRCh38 Chromosome 16, 50699874: 50699874
108 NOD2 NM_022162.2(NOD2): c.460G> A (p.Asp154Asn) single nucleotide variant Likely benign rs146054564 GRCh37 Chromosome 16, 50733785: 50733785
109 NOD2 NM_022162.2(NOD2): c.531G> A (p.Pro177=) single nucleotide variant Likely benign rs775281342 GRCh38 Chromosome 16, 50699945: 50699945
110 NOD2 NM_022162.2(NOD2): c.531G> A (p.Pro177=) single nucleotide variant Likely benign rs775281342 GRCh37 Chromosome 16, 50733856: 50733856
111 NOD2 NM_022162.2(NOD2): c.646+15T> C single nucleotide variant Likely benign rs765487015 GRCh38 Chromosome 16, 50707975: 50707975
112 NOD2 NM_022162.2(NOD2): c.646+15T> C single nucleotide variant Likely benign rs765487015 GRCh37 Chromosome 16, 50741886: 50741886
113 NOD2 NM_022162.2(NOD2): c.859C> T (p.His287Tyr) single nucleotide variant Likely benign rs560242309 GRCh37 Chromosome 16, 50744681: 50744681
114 NOD2 NM_022162.2(NOD2): c.859C> T (p.His287Tyr) single nucleotide variant Likely benign rs560242309 GRCh38 Chromosome 16, 50710770: 50710770
115 NOD2 NM_022162.2(NOD2): c.875C> T (p.Ala292Val) single nucleotide variant Likely benign rs149338478 GRCh37 Chromosome 16, 50744697: 50744697
116 NOD2 NM_022162.2(NOD2): c.875C> T (p.Ala292Val) single nucleotide variant Likely benign rs149338478 GRCh38 Chromosome 16, 50710786: 50710786
117 NOD2 NM_022162.2(NOD2): c.1833C> T (p.Ala611=) single nucleotide variant Benign/Likely benign rs61736932 GRCh37 Chromosome 16, 50745655: 50745655
118 NOD2 NM_022162.2(NOD2): c.1833C> T (p.Ala611=) single nucleotide variant Benign/Likely benign rs61736932 GRCh38 Chromosome 16, 50711744: 50711744
119 NOD2 NM_022162.2(NOD2): c.2123G> A (p.Arg708His) single nucleotide variant Benign/Likely benign rs35285618 GRCh38 Chromosome 16, 50712034: 50712034
120 NOD2 NM_022162.2(NOD2): c.2123G> A (p.Arg708His) single nucleotide variant Benign/Likely benign rs35285618 GRCh37 Chromosome 16, 50745945: 50745945
121 NOD2 NM_022162.2(NOD2): c.2147G> A (p.Arg716His) single nucleotide variant Likely benign rs200035357 GRCh38 Chromosome 16, 50712058: 50712058
122 NOD2 NM_022162.2(NOD2): c.2147G> A (p.Arg716His) single nucleotide variant Likely benign rs200035357 GRCh37 Chromosome 16, 50745969: 50745969
123 NOD2 NM_022162.2(NOD2): c.2174C> G (p.Ala725Gly) single nucleotide variant Benign rs5743278 GRCh38 Chromosome 16, 50712085: 50712085
124 NOD2 NM_022162.2(NOD2): c.2174C> G (p.Ala725Gly) single nucleotide variant Benign rs5743278 GRCh37 Chromosome 16, 50745996: 50745996
125 NOD2 NM_022162.2(NOD2): c.2264C> T (p.Ala755Val) single nucleotide variant Likely benign rs61747625 GRCh38 Chromosome 16, 50712175: 50712175
126 NOD2 NM_022162.2(NOD2): c.2264C> T (p.Ala755Val) single nucleotide variant Likely benign rs61747625 GRCh37 Chromosome 16, 50746086: 50746086
127 NOD2 NM_022162.2(NOD2): c.2463-9T> A single nucleotide variant Likely benign rs201759367 GRCh38 Chromosome 16, 50716578: 50716578
128 NOD2 NM_022162.2(NOD2): c.703C> T (p.Arg235Cys) single nucleotide variant Likely benign rs104895422 GRCh38 Chromosome 16, 50710614: 50710614
129 NOD2 NM_022162.2(NOD2): c.703C> T (p.Arg235Cys) single nucleotide variant Likely benign rs104895422 GRCh37 Chromosome 16, 50744525: 50744525
130 NOD2 NM_022162.2(NOD2): c.469T> C (p.Trp157Arg) single nucleotide variant not provided rs104895420 GRCh38 Chromosome 16, 50699883: 50699883
131 NOD2 NM_022162.2(NOD2): c.469T> C (p.Trp157Arg) single nucleotide variant not provided rs104895420 GRCh37 Chromosome 16, 50733794: 50733794
132 NOD2 NM_022162.2(NOD2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104895456 GRCh38 Chromosome 16, 50699827: 50699827
133 NOD2 NM_022162.2(NOD2): c.413G> A (p.Arg138Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs104895456 GRCh37 Chromosome 16, 50733738: 50733738
134 NOD2 NM_022162.2(NOD2): c.337G> A (p.Asp113Asn) single nucleotide variant not provided rs104895468 GRCh38 Chromosome 16, 50699751: 50699751
135 NOD2 NM_022162.2(NOD2): c.337G> A (p.Asp113Asn) single nucleotide variant not provided rs104895468 GRCh37 Chromosome 16, 50733662: 50733662
136 NOD2 NM_022162.2(NOD2): c.315G> A (p.Ala105=) single nucleotide variant not provided rs104895419 GRCh38 Chromosome 16, 50699729: 50699729
137 NOD2 NM_022162.2(NOD2): c.315G> A (p.Ala105=) single nucleotide variant not provided rs104895419 GRCh37 Chromosome 16, 50733640: 50733640
138 NOD2 NM_022162.2(NOD2): c.3055C> T (p.Arg1019Ter) single nucleotide variant not provided rs104895491 GRCh38 Chromosome 16, 50731751: 50731751
139 NOD2 NM_022162.2(NOD2): c.3055C> T (p.Arg1019Ter) single nucleotide variant not provided rs104895491 GRCh37 Chromosome 16, 50765662: 50765662
140 NOD2 NM_022162.2(NOD2): c.3051-102C> G single nucleotide variant not provided rs104895458 GRCh38 Chromosome 16, 50731645: 50731645
141 NOD2 NM_022162.2(NOD2): c.3051-102C> G single nucleotide variant not provided rs104895458 GRCh37 Chromosome 16, 50765556: 50765556
142 NOD2 NM_022162.2(NOD2): c.2933G> A (p.Gly978Glu) single nucleotide variant not provided rs104895457 GRCh38 Chromosome 16, 50725539: 50725539
143 NOD2 NM_022162.2(NOD2): c.2933G> A (p.Gly978Glu) single nucleotide variant not provided rs104895457 GRCh37 Chromosome 16, 50759450: 50759450
144 NOD2 NM_022162.2(NOD2): c.2925C> T (p.Leu975=) single nucleotide variant not provided rs104895463 GRCh38 Chromosome 16, 50725531: 50725531
145 NOD2 NM_022162.2(NOD2): c.2925C> T (p.Leu975=) single nucleotide variant not provided rs104895463 GRCh37 Chromosome 16, 50759442: 50759442
146 NOD2 NM_022162.2(NOD2): c.2914G> A (p.Val972Ile) single nucleotide variant not provided rs104895455 GRCh38 Chromosome 16, 50725520: 50725520
147 NOD2 NM_022162.2(NOD2): c.2914G> A (p.Val972Ile) single nucleotide variant not provided rs104895455 GRCh37 Chromosome 16, 50759431: 50759431
148 NOD2 NM_022162.2(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign/Likely benign rs5743291 GRCh38 Chromosome 16, 50723365: 50723365
149 NOD2 NM_022162.2(NOD2): c.2863G> A (p.Val955Ile) single nucleotide variant Benign/Likely benign rs5743291 GRCh37 Chromosome 16, 50757276: 50757276
150 NOD2 NM_022162.2(NOD2): c.2817T> C (p.Ile939=) single nucleotide variant not provided rs104895454 GRCh38 Chromosome 16, 50723319: 50723319
151 NOD2 NM_022162.2(NOD2): c.2771G> A (p.Gly924Asp) single nucleotide variant not provided rs104895453 GRCh38 Chromosome 16, 50722678: 50722678
152 NOD2 NM_022162.2(NOD2): c.2771G> A (p.Gly924Asp) single nucleotide variant not provided rs104895453 GRCh37 Chromosome 16, 50756589: 50756589
153 NOD2 NM_022162.2(NOD2): c.2753C> A (p.Ala918Asp) single nucleotide variant Likely benign rs104895452 GRCh38 Chromosome 16, 50722660: 50722660
154 NOD2 NM_022162.2(NOD2): c.2753C> A (p.Ala918Asp) single nucleotide variant Likely benign rs104895452 GRCh37 Chromosome 16, 50756571: 50756571
155 NOD2 NM_022162.2(NOD2): c.2739C> T (p.Asp913=) single nucleotide variant not provided rs104895451 GRCh38 Chromosome 16, 50722646: 50722646
156 NOD2 NM_022162.2(NOD2): c.2739C> T (p.Asp913=) single nucleotide variant not provided rs104895451 GRCh37 Chromosome 16, 50756557: 50756557
157 NOD2 NM_022162.2(NOD2): c.2719T> C (p.Trp907Arg) single nucleotide variant not provided rs104895490 GRCh38 Chromosome 16, 50722626: 50722626
158 NOD2 NM_022162.2(NOD2): c.2719T> C (p.Trp907Arg) single nucleotide variant not provided rs104895490 GRCh37 Chromosome 16, 50756537: 50756537
159 NOD2 NM_022162.2(NOD2): c.2715-81G> A single nucleotide variant not provided rs104895465 GRCh38 Chromosome 16, 50722541: 50722541
160 NOD2 NM_022162.2(NOD2): c.2715-81G> A single nucleotide variant not provided rs104895465 GRCh37 Chromosome 16, 50756452: 50756452
161 NOD2 NM_022162.2(NOD2): c.2715-75G> A single nucleotide variant not provided rs104895466 GRCh38 Chromosome 16, 50722547: 50722547
162 NOD2 NM_022162.2(NOD2): c.2715-75G> A single nucleotide variant not provided rs104895466 GRCh37 Chromosome 16, 50756458: 50756458
163 NOD2 NM_022162.2(NOD2): c.2631-5T> C single nucleotide variant not provided rs104895450 GRCh38 Chromosome 16, 50719920: 50719920
164 NOD2 NM_022162.2(NOD2): c.2631-5T> C single nucleotide variant not provided rs104895450 GRCh37 Chromosome 16, 50753831: 50753831
165 NOD2 NM_022162.2(NOD2): c.2630+35T> A single nucleotide variant not provided rs104895449 GRCh38 Chromosome 16, 50717009: 50717009
166 NOD2 NM_022162.2(NOD2): c.2630+35T> A single nucleotide variant not provided rs104895449 GRCh37 Chromosome 16, 50750920: 50750920
167 NOD2 NM_022162.2(NOD2): c.2619C> T (p.Phe873=) single nucleotide variant not provided rs104895448 GRCh38 Chromosome 16, 50716963: 50716963
168 NOD2 NM_022162.2(NOD2): c.2619C> T (p.Phe873=) single nucleotide variant not provided rs104895448 GRCh37 Chromosome 16, 50750874: 50750874
169 NOD2 NM_022162.2(NOD2): c.2587A> G (p.Met863Val) single nucleotide variant Benign/Likely benign rs104895447 GRCh38 Chromosome 16, 50716931: 50716931
170 NOD2 NM_022162.2(NOD2): c.2817T> C (p.Ile939=) single nucleotide variant not provided rs104895454 GRCh37 Chromosome 16, 50757230: 50757230
171 NOD2 NM_022162.2(NOD2): c.2587A> G (p.Met863Val) single nucleotide variant Benign/Likely benign rs104895447 GRCh37 Chromosome 16, 50750842: 50750842
172 NOD2 NM_022162.2(NOD2): c.2558A> G (p.Asn853Ser) single nucleotide variant not provided rs104895446 GRCh38 Chromosome 16, 50716902: 50716902
173 NOD2 NM_022162.2(NOD2): c.2558A> G (p.Asn853Ser) single nucleotide variant not provided rs104895446 GRCh37 Chromosome 16, 50750813: 50750813
174 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh38 Chromosome 16, 50716899: 50716899
175 NOD2 NM_022162.2(NOD2): c.2555A> G (p.Asn852Ser) single nucleotide variant risk factor rs104895467 GRCh37 Chromosome 16, 50750810: 50750810
176 NOD2 NM_022162.2(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Likely benign rs104895486 GRCh38 Chromosome 16, 50716670: 50716670
177 NOD2 NM_022162.2(NOD2): c.2546C> T (p.Ala849Val) single nucleotide variant Likely benign rs104895486 GRCh37 Chromosome 16, 50750581: 50750581
178 NOD2 NM_022162.2(NOD2): c.2527G> A (p.Glu843Lys) single nucleotide variant not provided rs104895445 GRCh38 Chromosome 16, 50716651: 50716651
179 NOD2 NM_022162.2(NOD2): c.2527G> A (p.Glu843Lys) single nucleotide variant not provided rs104895445 GRCh37 Chromosome 16, 50750562: 50750562
180 NOD2 NM_022162.2(NOD2): c.2475C> G (p.Asn825Lys) single nucleotide variant not provided rs104895485 GRCh38 Chromosome 16, 50716599: 50716599
181 NOD2 NM_022162.2(NOD2): c.2475C> G (p.Asn825Lys) single nucleotide variant not provided rs104895485 GRCh37 Chromosome 16, 50750510: 50750510
182 NOD2 NM_022162.2(NOD2): c.2406G> T (p.Val802=) single nucleotide variant Likely benign rs104895495 GRCh38 Chromosome 16, 50712317: 50712317
183 NOD2 NM_022162.2(NOD2): c.2406G> T (p.Val802=) single nucleotide variant Likely benign rs104895495 GRCh37 Chromosome 16, 50746228: 50746228
184 NOD2 NM_022162.2(NOD2): c.2377G> A (p.Val793Met) single nucleotide variant Likely benign rs104895444 GRCh38 Chromosome 16, 50712288: 50712288
185 NOD2 NM_022162.2(NOD2): c.2377G> A (p.Val793Met) single nucleotide variant Likely benign rs104895444 GRCh37 Chromosome 16, 50746199: 50746199
186 NOD2 NM_022162.2(NOD2): c.2372G> A (p.Arg791Gln) single nucleotide variant Benign/Likely benign rs104895464 GRCh38 Chromosome 16, 50712283: 50712283
187 NOD2 NM_022162.2(NOD2): c.2372G> A (p.Arg791Gln) single nucleotide variant Benign/Likely benign rs104895464 GRCh37 Chromosome 16, 50746194: 50746194
188 NOD2 NM_022162.2(NOD2): c.2371C> T (p.Arg791Trp) single nucleotide variant not provided rs104895484 GRCh38 Chromosome 16, 50712282: 50712282
189 NOD2 NM_022162.2(NOD2): c.2371C> T (p.Arg791Trp) single nucleotide variant not provided rs104895484 GRCh37 Chromosome 16, 50746193: 50746193
190 NOD2 NM_022162.2(NOD2): c.2332G> A (p.Glu778Lys) single nucleotide variant Uncertain significance rs104895443 GRCh38 Chromosome 16, 50712243: 50712243
191 NOD2 NM_022162.2(NOD2): c.2332G> A (p.Glu778Lys) single nucleotide variant Uncertain significance rs104895443 GRCh37 Chromosome 16, 50746154: 50746154
192 NOD2 NM_022162.2(NOD2): c.2273C> T (p.Ala758Val) single nucleotide variant not provided rs104895442 GRCh38 Chromosome 16, 50712184: 50712184
193 NOD2 NM_022162.2(NOD2): c.2273C> T (p.Ala758Val) single nucleotide variant not provided rs104895442 GRCh37 Chromosome 16, 50746095: 50746095
194 NOD2 NM_022162.2(NOD2): c.2220C> T (p.Ile740=) single nucleotide variant not provided rs104895441 GRCh38 Chromosome 16, 50712131: 50712131
195 NOD2 NM_022162.2(NOD2): c.2220C> T (p.Ile740=) single nucleotide variant not provided rs104895441 GRCh37 Chromosome 16, 50746042: 50746042
196 NOD2 NM_022162.2(NOD2): c.2180C> T (p.Pro727Leu) single nucleotide variant not provided rs104895489 GRCh38 Chromosome 16, 50712091: 50712091
197 NOD2 NM_022162.2(NOD2): c.2180C> T (p.Pro727Leu) single nucleotide variant not provided rs104895489 GRCh37 Chromosome 16, 50746002: 50746002
198 NOD2 NM_022162.2(NOD2): c.2138G> A (p.Arg713His) single nucleotide variant Uncertain significance rs104895483 GRCh38 Chromosome 16, 50712049: 50712049
199 NOD2 NM_022162.2(NOD2): c.2138G> A (p.Arg713His) single nucleotide variant Uncertain significance rs104895483 GRCh37 Chromosome 16, 50745960: 50745960
200 NOD2 NM_022162.2(NOD2): c.2137C> T (p.Arg713Cys) single nucleotide variant Uncertain significance rs104895440 GRCh38 Chromosome 16, 50712048: 50712048
201 NOD2 NM_022162.2(NOD2): c.2137C> T (p.Arg713Cys) single nucleotide variant Uncertain significance rs104895440 GRCh37 Chromosome 16, 50745959: 50745959
202 NOD2 NM_022162.2(NOD2): c.2010C> A (p.Asn670Lys) single nucleotide variant not provided rs104895475 GRCh38 Chromosome 16, 50711921: 50711921
203 NOD2 NM_022162.2(NOD2): c.2010C> A (p.Asn670Lys) single nucleotide variant not provided rs104895475 GRCh37 Chromosome 16, 50745832: 50745832
204 NOD2 NM_022162.2(NOD2): c.1835C> T (p.Ala612Val) single nucleotide variant not provided rs104895439 GRCh38 Chromosome 16, 50711746: 50711746
205 NOD2 NM_022162.2(NOD2): c.1835C> T (p.Ala612Val) single nucleotide variant not provided rs104895439 GRCh37 Chromosome 16, 50745657: 50745657
206 NOD2 NM_022162.2(NOD2): c.1813A> C (p.Thr605Pro) single nucleotide variant not provided rs104895474 GRCh38 Chromosome 16, 50711724: 50711724
207 NOD2 NM_022162.2(NOD2): c.1813A> C (p.Thr605Pro) single nucleotide variant not provided rs104895474 GRCh37 Chromosome 16, 50745635: 50745635
208 NOD2 NM_022162.2(NOD2): c.1788G> A (p.Thr596=) single nucleotide variant Benign rs104895437 GRCh38 Chromosome 16, 50711699: 50711699
209 NOD2 NM_022162.2(NOD2): c.1788G> A (p.Thr596=) single nucleotide variant Benign rs104895437 GRCh37 Chromosome 16, 50745610: 50745610
210 NOD2 NM_022162.2(NOD2): c.1759C> T (p.Arg587Cys) single nucleotide variant not provided rs104895479 GRCh38 Chromosome 16, 50711670: 50711670
211 NOD2 NM_022162.2(NOD2): c.1759C> T (p.Arg587Cys) single nucleotide variant not provided rs104895479 GRCh37 Chromosome 16, 50745581: 50745581
212 NOD2 NM_022162.2(NOD2): c.1672_1677del (p.Leu558_Gly559del) deletion not provided rs104895436 GRCh38 Chromosome 16, 50711583: 50711588
213 NOD2 NM_022162.2(NOD2): c.1672_1677del (p.Leu558_Gly559del) deletion not provided rs104895436 GRCh37 Chromosome 16, 50745494: 50745499
214 NOD2 NM_022162.2(NOD2): c.1648C> G (p.Leu550Val) single nucleotide variant not provided rs104895471 GRCh38 Chromosome 16, 50711559: 50711559
215 NOD2 NM_022162.2(NOD2): c.1648C> G (p.Leu550Val) single nucleotide variant not provided rs104895471 GRCh37 Chromosome 16, 50745470: 50745470
216 NOD2 NM_022162.2(NOD2): c.*462C> A single nucleotide variant Uncertain significance rs562972090 GRCh37 Chromosome 16, 50766192: 50766192
217 NOD2 NM_022162.2(NOD2): c.*397A> C single nucleotide variant Benign rs3135499 GRCh38 Chromosome 16, 50732216: 50732216
218 NOD2 NM_022162.2(NOD2): c.*397A> C single nucleotide variant Benign rs3135499 GRCh37 Chromosome 16, 50766127: 50766127
219 NOD2 NM_022162.2(NOD2): c.*394C> T single nucleotide variant Uncertain significance rs886052048 GRCh38 Chromosome 16, 50732213: 50732213
220 NOD2 NM_022162.2(NOD2): c.*394C> T single nucleotide variant Uncertain significance rs886052048 GRCh37 Chromosome 16, 50766124: 50766124
221 NOD2 NM_022162.2(NOD2): c.*325G> A single nucleotide variant Uncertain significance rs886052046 GRCh37 Chromosome 16, 50766055: 50766055
222 NOD2 NM_022162.2(NOD2): c.*325G> A single nucleotide variant Uncertain significance rs886052046 GRCh38 Chromosome 16, 50732144: 50732144
223 NOD2 NM_022162.2(NOD2): c.2463-9T> A single nucleotide variant Likely benign rs201759367 GRCh37 Chromosome 16, 50750489: 50750489
224 NOD2 NM_022162.2(NOD2): c.2704C> A (p.Gln902Lys) single nucleotide variant Likely benign rs201035873 GRCh38 Chromosome 16, 50719998: 50719998
225 NOD2 NM_022162.2(NOD2): c.2704C> A (p.Gln902Lys) single nucleotide variant Likely benign rs201035873 GRCh37 Chromosome 16, 50753909: 50753909
226 NOD2 NM_022162.2(NOD2): c.*89C> T single nucleotide variant Likely benign rs184545855 GRCh38 Chromosome 16, 50731908: 50731908
227 NOD2 NM_022162.2(NOD2): c.*89C> T single nucleotide variant Likely benign rs184545855 GRCh37 Chromosome 16, 50765819: 50765819
228 NOD2 NM_022162.2(NOD2): c.*329_*334dup duplication Uncertain significance rs886052047 GRCh38 Chromosome 16, 50732148: 50732153
229 NOD2 NM_022162.2(NOD2): c.*329_*334dup duplication Uncertain significance rs886052047 GRCh37 Chromosome 16, 50766059: 50766064
230 NOD2 NM_022162.2(NOD2): c.*470C> T single nucleotide variant Uncertain significance rs770461687 GRCh37 Chromosome 16, 50766200: 50766200
231 NOD2 NM_022162.2(NOD2): c.*470C> T single nucleotide variant Uncertain significance rs770461687 GRCh38 Chromosome 16, 50732289: 50732289
232 NOD2 NM_022162.2(NOD2): c.*1156G> A single nucleotide variant Benign rs3135500 GRCh37 Chromosome 16, 50766886: 50766886
233 NOD2 NM_022162.2(NOD2): c.*1156G> A single nucleotide variant Benign rs3135500 GRCh38 Chromosome 16, 50732975: 50732975
234 NOD2 NM_022162.2(NOD2): c.-96del deletion Likely benign rs5743265 GRCh38 Chromosome 16, 50697148: 50697148
235 NOD2 NM_022162.2(NOD2): c.-96del deletion Likely benign rs5743265 GRCh37 Chromosome 16, 50731059: 50731059
236 NOD2 NM_022162.2(NOD2): c.534C> G (p.Ser178=) single nucleotide variant Benign rs2067085 GRCh38 Chromosome 16, 50699948: 50699948
237 NOD2 NM_022162.2(NOD2): c.534C> G (p.Ser178=) single nucleotide variant Benign rs2067085 GRCh37 Chromosome 16, 50733859: 50733859
238 NOD2 NM_022162.2(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61755182 GRCh38 Chromosome 16, 50707880: 50707880
239 NOD2 NM_022162.2(NOD2): c.566C> T (p.Thr189Met) single nucleotide variant Conflicting interpretations of pathogenicity rs61755182 GRCh37 Chromosome 16, 50741791: 50741791
240 NOD2 NM_022162.2(NOD2): c.734C> T (p.Thr245Met) single nucleotide variant Likely benign rs148516118 GRCh38 Chromosome 16, 50710645: 50710645
241 NOD2 NM_022162.2(NOD2): c.734C> T (p.Thr245Met) single nucleotide variant Likely benign rs148516118 GRCh37 Chromosome 16, 50744556: 50744556
242 NOD2 NM_022162.2(NOD2): c.802C> T (p.Pro268Ser) single nucleotide variant Benign rs2066842 GRCh37 Chromosome 16, 50744624: 50744624
243 NOD2 NM_022162.2(NOD2): c.802C> T (p.Pro268Ser) single nucleotide variant Benign rs2066842 GRCh38 Chromosome 16, 50710713: 50710713
244 NOD2 NM_022162.2(NOD2): c.1269G> T (p.Val423=) single nucleotide variant Benign/Likely benign rs77966199 GRCh37 Chromosome 16, 50745091: 50745091
245 NOD2 NM_022162.2(NOD2): c.1269G> T (p.Val423=) single nucleotide variant Benign/Likely benign rs77966199 GRCh38 Chromosome 16, 50711180: 50711180
246 NOD2 NM_022162.2(NOD2): c.1377C> T (p.Arg459=) single nucleotide variant Benign rs2066843 GRCh37 Chromosome 16, 50745199: 50745199
247 NOD2 NM_022162.2(NOD2): c.1377C> T (p.Arg459=) single nucleotide variant Benign rs2066843 GRCh38 Chromosome 16, 50711288: 50711288
248 NOD2 NM_022162.2(NOD2): c.1634C> T (p.Pro545Leu) single nucleotide variant Uncertain significance rs777949388 GRCh37 Chromosome 16, 50745456: 50745456
249 NOD2 NM_022162.2(NOD2): c.1634C> T (p.Pro545Leu) single nucleotide variant Uncertain significance rs777949388 GRCh38 Chromosome 16, 50711545: 50711545
250 NOD2 NM_022162.2(NOD2): c.1689C> T (p.Tyr563=) single nucleotide variant Likely benign rs111608429 GRCh37 Chromosome 16, 50745511: 50745511
251 NOD2 NM_022162.2(NOD2): c.1689C> T (p.Tyr563=) single nucleotide variant Likely benign rs111608429 GRCh38 Chromosome 16, 50711600: 50711600
252 NOD2 NM_022162.2(NOD2): c.1761T> G (p.Arg587=) single nucleotide variant Benign rs1861759 GRCh37 Chromosome 16, 50745583: 50745583
253 NOD2 NM_022162.2(NOD2): c.1761T> G (p.Arg587=) single nucleotide variant Benign rs1861759 GRCh38 Chromosome 16, 50711672: 50711672
254 NOD2 NM_022162.2(NOD2): c.1839C> T (p.Phe613=) single nucleotide variant Likely benign rs149870902 GRCh37 Chromosome 16, 50745661: 50745661
255 NOD2 NM_022162.2(NOD2): c.1839C> T (p.Phe613=) single nucleotide variant Likely benign rs149870902 GRCh38 Chromosome 16, 50711750: 50711750
256 NOD2 NM_022162.2(NOD2): c.1856C> T (p.Ala619Val) single nucleotide variant Uncertain significance rs867131858 GRCh38 Chromosome 16, 50711767: 50711767
257 NOD2 NM_022162.2(NOD2): c.1856C> T (p.Ala619Val) single nucleotide variant Uncertain significance rs867131858 GRCh37 Chromosome 16, 50745678: 50745678
258 NOD2 NM_022162.2(NOD2): c.2003C> T (p.Pro668Leu) single nucleotide variant Uncertain significance rs5743275 GRCh38 Chromosome 16, 50711914: 50711914
259 NOD2 NM_022162.2(NOD2): c.2003C> T (p.Pro668Leu) single nucleotide variant Uncertain significance rs5743275 GRCh37 Chromosome 16, 50745825: 50745825
260 NOD2 NM_022162.2(NOD2): c.2046G> T (p.Leu682Phe) single nucleotide variant Likely benign rs149002807 GRCh38 Chromosome 16, 50711957: 50711957
261 NOD2 NM_022162.2(NOD2): c.2046G> T (p.Leu682Phe) single nucleotide variant Likely benign rs149002807 GRCh37 Chromosome 16, 50745868: 50745868
262 NOD2 NM_022162.2(NOD2): c.3094G> A (p.Gly1032Ser) single nucleotide variant Likely benign rs147874812 GRCh38 Chromosome 16, 50731790: 50731790
263 NOD2 NM_022162.2(NOD2): c.3094G> A (p.Gly1032Ser) single nucleotide variant Likely benign rs147874812 GRCh37 Chromosome 16, 50765701: 50765701
264 NOD2 NM_022162.2(NOD2): c.*382C> T single nucleotide variant Likely benign rs535063121 GRCh37 Chromosome 16, 50766112: 50766112
265 NOD2 NM_022162.2(NOD2): c.*382C> T single nucleotide variant Likely benign rs535063121 GRCh38 Chromosome 16, 50732201: 50732201
266 NOD2 NM_022162.2(NOD2): c.*1023C> T single nucleotide variant Likely benign rs5743299 GRCh37 Chromosome 16, 50766753: 50766753
267 NOD2 NM_022162.2(NOD2): c.*1023C> T single nucleotide variant Likely benign rs5743299 GRCh38 Chromosome 16, 50732842: 50732842
268 NOD2 NM_022162.2(NOD2): c.*1201T> A single nucleotide variant Uncertain significance rs751525993 GRCh37 Chromosome 16, 50766931: 50766931
269 NOD2 NM_022162.2(NOD2): c.*1201T> A single nucleotide variant Uncertain significance rs751525993 GRCh38 Chromosome 16, 50733020: 50733020
270 NOD2 NM_022162.2(NOD2): c.-58T> C single nucleotide variant Likely benign rs139485985 GRCh38 Chromosome 16, 50697186: 50697186
271 NOD2 NM_022162.2(NOD2): c.-58T> C single nucleotide variant Likely benign rs139485985 GRCh37 Chromosome 16, 50731097: 50731097
272 NOD2 NM_022162.2(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 GRCh38 Chromosome 16, 50699554: 50699554
273 NOD2 NM_022162.2(NOD2): c.140C> T (p.Ser47Leu) single nucleotide variant Uncertain significance rs201586544 GRCh37 Chromosome 16, 50733465: 50733465
274 NOD2 NM_022162.2(NOD2): c.541-3T> C single nucleotide variant Benign/Likely benign rs141833420 GRCh38 Chromosome 16, 50707852: 50707852
275 NOD2 NM_022162.2(NOD2): c.541-3T> C single nucleotide variant Benign/Likely benign rs141833420 GRCh37 Chromosome 16, 50741763: 50741763
276 NOD2 NM_022162.2(NOD2): c.828G> A (p.Leu276=) single nucleotide variant Likely benign rs763504952 GRCh37 Chromosome 16, 50744650: 50744650
277 NOD2 NM_022162.2(NOD2): c.828G> A (p.Leu276=) single nucleotide variant Likely benign rs763504952 GRCh38 Chromosome 16, 50710739: 50710739
278 NOD2 NM_022162.2(NOD2): c.841C> T (p.Leu281Phe) single nucleotide variant Uncertain significance rs756943416 GRCh37 Chromosome 16, 50744663: 50744663
279 NOD2 NM_022162.2(NOD2): c.841C> T (p.Leu281Phe) single nucleotide variant Uncertain significance rs756943416 GRCh38 Chromosome 16, 50710752: 50710752
280 NOD2 NM_022162.2(NOD2): c.866A> G (p.Asn289Ser) single nucleotide variant Benign/Likely benign rs5743271 GRCh37 Chromosome 16, 50744688: 50744688
281 NOD2 NM_022162.2(NOD2): c.866A> G (p.Asn289Ser) single nucleotide variant Benign/Likely benign rs5743271 GRCh38 Chromosome 16, 50710777: 50710777
282 NOD2 NM_022162.2(NOD2): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs554887705 GRCh37 Chromosome 16, 50744994: 50744994
283 NOD2 NM_022162.2(NOD2): c.1172G> A (p.Arg391His) single nucleotide variant Likely benign rs554887705 GRCh38 Chromosome 16, 50711083: 50711083
284 NOD2 NM_022162.2(NOD2): c.1316G> A (p.Arg439His) single nucleotide variant Conflicting interpretations of pathogenicity rs143110172 GRCh37 Chromosome 16, 50745138: 50745138
285 NOD2 NM_022162.2(NOD2): c.1316G> A (p.Arg439His) single nucleotide variant Conflicting interpretations of pathogenicity rs143110172 GRCh38 Chromosome 16, 50711227: 50711227
286 NOD2 NM_022162.2(NOD2): c.1411C> T (p.Arg471Cys) single nucleotide variant Likely benign rs1078327 GRCh37 Chromosome 16, 50745233: 50745233
287 NOD2 NM_022162.2(NOD2): c.1411C> T (p.Arg471Cys) single nucleotide variant Likely benign rs1078327 GRCh38 Chromosome 16, 50711322: 50711322
288 NOD2 NM_022162.2(NOD2): c.1603C> T (p.Leu535=) single nucleotide variant Uncertain significance rs145190613 GRCh37 Chromosome 16, 50745425: 50745425
289 NOD2 NM_022162.2(NOD2): c.1603C> T (p.Leu535=) single nucleotide variant Uncertain significance rs145190613 GRCh38 Chromosome 16, 50711514: 50711514
290 NOD2 NM_022162.2(NOD2): c.1834G> T (p.Ala612Ser) single nucleotide variant Likely benign rs104895438 GRCh37 Chromosome 16, 50745656: 50745656
291 NOD2 NM_022162.2(NOD2): c.1834G> T (p.Ala612Ser) single nucleotide variant Likely benign rs104895438 GRCh38 Chromosome 16, 50711745: 50711745
292 NOD2 NM_022162.2(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 GRCh38 Chromosome 16, 50711961: 50711961
293 NOD2 NM_022162.2(NOD2): c.2050C> T (p.Arg684Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs5743276 GRCh37 Chromosome 16, 50745872: 50745872
294 NOD2 NM_022162.2(NOD2): c.2330C> A (p.Thr777Asn) single nucleotide variant Uncertain significance rs756184386 GRCh38 Chromosome 16, 50712241: 50712241
295 NOD2 NM_022162.2(NOD2): c.2330C> A (p.Thr777Asn) single nucleotide variant Uncertain significance rs756184386 GRCh37 Chromosome 16, 50746152: 50746152
296 NOD2 NM_022162.2(NOD2): c.2365C> T (p.Leu789Phe) single nucleotide variant Uncertain significance rs773758818 GRCh38 Chromosome 16, 50712276: 50712276
297 NOD2 NM_022162.2(NOD2): c.2365C> T (p.Leu789Phe) single nucleotide variant Uncertain significance rs773758818 GRCh37 Chromosome 16, 50746187: 50746187
298 NOD2 NM_022162.2(NOD2): c.2462+10A> C single nucleotide variant Likely benign rs72796353 GRCh38 Chromosome 16, 50712383: 50712383
299 NOD2 NM_022162.2(NOD2): c.2462+10A> C single nucleotide variant Likely benign rs72796353 GRCh37 Chromosome 16, 50746294: 50746294
300 NOD2 NM_022162.2(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 GRCh38 Chromosome 16, 50716618: 50716618
301 NOD2 NM_022162.2(NOD2): c.2494A> G (p.Ile832Val) single nucleotide variant Uncertain significance rs765335094 GRCh37 Chromosome 16, 50750529: 50750529
302 NOD2 NM_022162.2(NOD2): c.2547-11G> T single nucleotide variant Likely benign rs5743285 GRCh38 Chromosome 16, 50716880: 50716880
303 NOD2 NM_022162.2(NOD2): c.2547-11G> T single nucleotide variant Likely benign rs5743285 GRCh37 Chromosome 16, 50750791: 50750791
304 NOD2 NM_022162.2(NOD2): c.2632C> T (p.Leu878=) single nucleotide variant Uncertain significance rs886052044 GRCh38 Chromosome 16, 50719926: 50719926
305 NOD2 NM_022162.2(NOD2): c.2632C> T (p.Leu878=) single nucleotide variant Uncertain significance rs886052044 GRCh37 Chromosome 16, 50753837: 50753837
306 NOD2 NM_022162.2(NOD2): c.2712G> A (p.Leu904=) single nucleotide variant Likely benign rs142559533 GRCh38 Chromosome 16, 50720006: 50720006
307 NOD2 NM_022162.2(NOD2): c.2712G> A (p.Leu904=) single nucleotide variant Likely benign rs142559533 GRCh37 Chromosome 16, 50753917: 50753917
308 NOD2 NM_022162.2(NOD2): c.2740G> A (p.Glu914Lys) single nucleotide variant Uncertain significance rs758913334 GRCh38 Chromosome 16, 50722647: 50722647
309 NOD2 NM_022162.2(NOD2): c.2740G> A (p.Glu914Lys) single nucleotide variant Uncertain significance rs758913334 GRCh37 Chromosome 16, 50756558: 50756558
310 NOD2 NM_022162.2(NOD2): c.*186C> G single nucleotide variant Uncertain significance rs886052045 GRCh38 Chromosome 16, 50732005: 50732005
311 NOD2 NM_022162.2(NOD2): c.*186C> G single nucleotide variant Uncertain significance rs886052045 GRCh37 Chromosome 16, 50765916: 50765916
312 NOD2 NM_022162.2(NOD2): c.*422C> G single nucleotide variant Uncertain significance rs886052049 GRCh37 Chromosome 16, 50766152: 50766152
313 NOD2 NM_022162.2(NOD2): c.*422C> G single nucleotide variant Uncertain significance rs886052049 GRCh38 Chromosome 16, 50732241: 50732241
314 NOD2 NM_022162.2(NOD2): c.*521C> T single nucleotide variant Likely benign rs5743297 GRCh37 Chromosome 16, 50766251: 50766251
315 NOD2 NM_022162.2(NOD2): c.*521C> T single nucleotide variant Likely benign rs5743297 GRCh38 Chromosome 16, 50732340: 50732340
316 NOD2 NM_022162.2(NOD2): c.*873C> T single nucleotide variant Uncertain significance rs373812846 GRCh37 Chromosome 16, 50766603: 50766603
317 NOD2 NM_022162.2(NOD2): c.*873C> T single nucleotide variant Uncertain significance rs373812846 GRCh38 Chromosome 16, 50732692: 50732692
318 NOD2 NM_022162.2(NOD2): c.*877C> A single nucleotide variant Likely benign rs140643942 GRCh37 Chromosome 16, 50766607: 50766607
319 NOD2 NM_022162.2(NOD2): c.*877C> A single nucleotide variant Likely benign rs140643942 GRCh38 Chromosome 16, 50732696: 50732696
320 NOD2 NM_022162.2(NOD2): c.*990T> C single nucleotide variant Likely benign rs192842874 GRCh37 Chromosome 16, 50766720: 50766720
321 NOD2 NM_022162.2(NOD2): c.*990T> C single nucleotide variant Likely benign rs192842874 GRCh38 Chromosome 16, 50732809: 50732809
322 NOD2 NM_022162.2(NOD2): c.1578C> G (p.Thr526=) single nucleotide variant Likely benign rs779950802 GRCh37 Chromosome 16, 50745400: 50745400
323 NOD2 NM_022162.2(NOD2): c.1578C> G (p.Thr526=) single nucleotide variant Likely benign rs779950802 GRCh38 Chromosome 16, 50711489: 50711489
324 NOD2 NM_022162.2(NOD2): c.418G> A (p.Ala140Thr) single nucleotide variant Benign rs34684955 GRCh37 Chromosome 16, 50733743: 50733743
325 NOD2 NM_022162.2(NOD2): c.418G> A (p.Ala140Thr) single nucleotide variant Benign rs34684955 GRCh38 Chromosome 16, 50699832: 50699832
326 NOD2 NM_022162.2(NOD2): c.1453C> T (p.Leu485=) single nucleotide variant Benign rs5743274 GRCh37 Chromosome 16, 50745275: 50745275
327 NOD2 NM_022162.2(NOD2): c.1453C> T (p.Leu485=) single nucleotide variant Benign rs5743274 GRCh38 Chromosome 16, 50711364: 50711364
328 NOD2 NM_022162.2(NOD2): c.2038G> A (p.Gly680Arg) single nucleotide variant Uncertain significance rs371339573 GRCh37 Chromosome 16, 50745860: 50745860
329 NOD2 NM_022162.2(NOD2): c.2038G> A (p.Gly680Arg) single nucleotide variant Uncertain significance rs371339573 GRCh38 Chromosome 16, 50711949: 50711949
330 NOD2 NM_022162.2(NOD2): c.2369G> A (p.Arg790Gln) single nucleotide variant Benign rs5743279 GRCh37 Chromosome 16, 50746191: 50746191
331 NOD2 NM_022162.2(NOD2): c.2369G> A (p.Arg790Gln) single nucleotide variant Benign rs5743279 GRCh38 Chromosome 16, 50712280: 50712280
332 NOD2 NM_022162.2(NOD2): c.816C> T (p.Ser272=) single nucleotide variant Benign rs35090774 GRCh38 Chromosome 16, 50710727: 50710727
333 NOD2 NM_022162.2(NOD2): c.816C> T (p.Ser272=) single nucleotide variant Benign rs35090774 GRCh37 Chromosome 16, 50744638: 50744638
334 NOD2 NM_022162.2(NOD2): c.127G> A (p.Glu43Lys) single nucleotide variant Uncertain significance rs200089552 GRCh38 Chromosome 16, 50699541: 50699541
335 NOD2 NM_022162.2(NOD2): c.127G> A (p.Glu43Lys) single nucleotide variant Uncertain significance rs200089552 GRCh37 Chromosome 16, 50733452: 50733452
336 NOD2 NM_022162.2(NOD2): c.1055A> G (p.His352Arg) single nucleotide variant Benign rs5743272 GRCh37 Chromosome 16, 50744877: 50744877
337 NOD2 NM_022162.2(NOD2): c.1055A> G (p.His352Arg) single nucleotide variant Benign rs5743272 GRCh38 Chromosome 16, 50710966: 50710966
338 NOD2 NM_022162.2(NOD2): c.7G> C (p.Glu3Gln) single nucleotide variant Uncertain significance rs976567823 GRCh37 Chromosome 16, 50731161: 50731161
339 NOD2 NM_022162.2(NOD2): c.7G> C (p.Glu3Gln) single nucleotide variant Uncertain significance rs976567823 GRCh38 Chromosome 16, 50697250: 50697250
340 NOD2 NM_022162.2(NOD2): c.314C> T (p.Ala105Val) single nucleotide variant Uncertain significance rs202052365 GRCh38 Chromosome 16, 50699728: 50699728
341 NOD2 NM_022162.2(NOD2): c.314C> T (p.Ala105Val) single nucleotide variant Uncertain significance rs202052365 GRCh37 Chromosome 16, 50733639: 50733639
342 NOD2 NM_022162.2(NOD2): c.698A> C (p.Gln233Pro) single nucleotide variant Uncertain significance rs369098290 GRCh37 Chromosome 16, 50744520: 50744520
343 NOD2 NM_022162.2(NOD2): c.698A> C (p.Gln233Pro) single nucleotide variant Uncertain significance rs369098290 GRCh38 Chromosome 16, 50710609: 50710609
344 NOD2 NM_022162.2(NOD2): c.712A> T (p.Ser238Cys) single nucleotide variant Uncertain significance rs1001861018 GRCh37 Chromosome 16, 50744534: 50744534
345 NOD2 NM_022162.2(NOD2): c.712A> T (p.Ser238Cys) single nucleotide variant Uncertain significance rs1001861018 GRCh38 Chromosome 16, 50710623: 50710623
346 NOD2 NM_022162.2(NOD2): c.1279C> T (p.Pro427Ser) single nucleotide variant Uncertain significance rs760982375 GRCh37 Chromosome 16, 50745101: 50745101
347 NOD2 NM_022162.2(NOD2): c.1279C> T (p.Pro427Ser) single nucleotide variant Uncertain significance rs760982375 GRCh38 Chromosome 16, 50711190: 50711190
348 NOD2 NM_022162.2(NOD2): c.1515dup (p.Ser506Valfs) duplication Uncertain significance rs754761524 GRCh37 Chromosome 16, 50745337: 50745337
349 NOD2 NM_022162.2(NOD2): c.1515dup (p.Ser506Valfs) duplication Uncertain significance rs754761524 GRCh38 Chromosome 16, 50711426: 50711426
350 NOD2 NM_022162.2(NOD2): c.1836G> A (p.Ala612=) single nucleotide variant Likely benign rs756626309 GRCh38 Chromosome 16, 50711747: 50711747
351 NOD2 NM_022162.2(NOD2): c.1836G> A (p.Ala612=) single nucleotide variant Likely benign rs756626309 GRCh37 Chromosome 16, 50745658: 50745658
352 NOD2 NM_022162.2(NOD2): c.2733G> A (p.Val911=) single nucleotide variant Likely benign rs1359941511 GRCh37 Chromosome 16, 50756551: 50756551
353 NOD2 NM_022162.2(NOD2): c.2733G> A (p.Val911=) single nucleotide variant Likely benign rs1359941511 GRCh38 Chromosome 16, 50722640: 50722640
354 NOD2 NM_022162.2(NOD2): c.2921C> T (p.Ser974Phe) single nucleotide variant Uncertain significance rs200463498 GRCh37 Chromosome 16, 50759438: 50759438
355 NOD2 NM_022162.2(NOD2): c.2921C> T (p.Ser974Phe) single nucleotide variant Uncertain significance rs200463498 GRCh38 Chromosome 16, 50725527: 50725527
356 NOD2 NM_022162.2(NOD2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765406921 GRCh37 Chromosome 16, 50731156: 50731156
357 NOD2 NM_022162.2(NOD2): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance rs765406921 GRCh38 Chromosome 16, 50697245: 50697245
358 NOD2 NM_022162.2(NOD2): c.126C> T (p.Val42=) single nucleotide variant Likely benign rs766815592 GRCh38 Chromosome 16, 50699540: 50699540
359 NOD2 NM_022162.2(NOD2): c.126C> T (p.Val42=) single nucleotide variant Likely benign rs766815592 GRCh37 Chromosome 16, 50733451: 50733451
360 NOD2 NM_022162.2(NOD2): c.374C> T (p.Pro125Leu) single nucleotide variant Likely benign rs149390911 GRCh37 Chromosome 16, 50733699: 50733699
361 NOD2 NM_022162.2(NOD2): c.374C> T (p.Pro125Leu) single nucleotide variant Likely benign rs149390911 GRCh38 Chromosome 16, 50699788: 50699788
362 NOD2 NM_022162.2(NOD2): c.476G> A (p.Arg159Gln) single nucleotide variant Uncertain significance rs150996156 GRCh38 Chromosome 16, 50699890: 50699890
363 NOD2 NM_022162.2(NOD2): c.476G> A (p.Arg159Gln) single nucleotide variant Uncertain significance rs150996156 GRCh37 Chromosome 16, 50733801: 50733801
364 NOD2 NM_022162.2(NOD2): c.2658G> A (p.Ala886=) single nucleotide variant Uncertain significance rs1417676866 GRCh38 Chromosome 16, 50719952: 50719952
365 NOD2 NM_022162.2(NOD2): c.2658G> A (p.Ala886=) single nucleotide variant Uncertain significance rs1417676866 GRCh37 Chromosome 16, 50753863: 50753863
366 NOD2 NM_022162.2(NOD2): c.746A> G (p.Glu249Gly) single nucleotide variant Uncertain significance rs117836686 GRCh37 Chromosome 16, 50744568: 50744568
367 NOD2 NM_022162.2(NOD2): c.746A> G (p.Glu249Gly) single nucleotide variant Uncertain significance rs117836686 GRCh38 Chromosome 16, 50710657: 50710657
368 NOD2 NM_022162.2(NOD2): c.1190C> T (p.Pro397Leu) single nucleotide variant Uncertain significance rs150078153 GRCh37 Chromosome 16, 50745012: 50745012
369 NOD2 NM_022162.2(NOD2): c.1190C> T (p.Pro397Leu) single nucleotide variant Uncertain significance rs150078153 GRCh38 Chromosome 16, 50711101: 50711101
370 NOD2 NM_022162.2(NOD2): c.2888A> G (p.Glu963Gly) single nucleotide variant Uncertain significance rs1555501675 GRCh37 Chromosome 16, 50759405: 50759405
371 NOD2 NM_022162.2(NOD2): c.2888A> G (p.Glu963Gly) single nucleotide variant Uncertain significance rs1555501675 GRCh38 Chromosome 16, 50725494: 50725494
372 NOD2 NM_022162.2(NOD2): c.2926G> A (p.Ala976Thr) single nucleotide variant Uncertain significance rs148561632 GRCh37 Chromosome 16, 50759443: 50759443
373 NOD2 NM_022162.2(NOD2): c.2926G> A (p.Ala976Thr) single nucleotide variant Uncertain significance rs148561632 GRCh38 Chromosome 16, 50725532: 50725532
374 NOD2 NM_022162.2(NOD2): c.921G> A (p.Thr307=) single nucleotide variant Likely benign rs376601025 GRCh38 Chromosome 16, 50710832: 50710832
375 NOD2 NM_022162.2(NOD2): c.921G> A (p.Thr307=) single nucleotide variant Likely benign rs376601025 GRCh37 Chromosome 16, 50744743: 50744743
376 NOD2 NM_022162.2(NOD2): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs562225614 GRCh38 Chromosome 16, 50711188: 50711188
377 NOD2 NM_022162.2(NOD2): c.1277G> A (p.Arg426His) single nucleotide variant Uncertain significance rs562225614 GRCh37 Chromosome 16, 50745099: 50745099
378 NOD2 NM_022162.2(NOD2): c.1280C> T (p.Pro427Leu) single nucleotide variant Likely benign rs766651775 GRCh38 Chromosome 16, 50711191: 50711191
379 NOD2 NM_022162.2(NOD2): c.1280C> T (p.Pro427Leu) single nucleotide variant Likely benign rs766651775 GRCh37 Chromosome 16, 50745102: 50745102
380 NOD2 NM_022162.2(NOD2): c.2699C> T (p.Ser900Phe) single nucleotide variant Uncertain significance rs199552944 GRCh38 Chromosome 16, 50719993: 50719993
381 NOD2 NM_022162.2(NOD2): c.2699C> T (p.Ser900Phe) single nucleotide variant Uncertain significance rs199552944 GRCh37 Chromosome 16, 50753904: 50753904
382 NOD2 NM_022162.2(NOD2): c.259C> T (p.Arg87Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50733584: 50733584
383 NOD2 NM_022162.2(NOD2): c.259C> T (p.Arg87Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50699673: 50699673
384 NOD2 NM_022162.2(NOD2): c.625C> T (p.Pro209Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50741850: 50741850
385 NOD2 NM_022162.2(NOD2): c.625C> T (p.Pro209Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50707939: 50707939
386 NOD2 NM_022162.2(NOD2): c.1969A> G (p.Ser657Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745791: 50745791
387 NOD2 NM_022162.2(NOD2): c.1969A> G (p.Ser657Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711880: 50711880
388 NOD2 NM_022162.2(NOD2): c.2266C> T (p.Arg756Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50746088: 50746088
389 NOD2 NM_022162.2(NOD2): c.2266C> T (p.Arg756Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50712177: 50712177
390 NOD2 NM_022162.2(NOD2): c.2267G> A (p.Arg756Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50746089: 50746089
391 NOD2 NM_022162.2(NOD2): c.2267G> A (p.Arg756Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50712178: 50712178
392 NOD2 NM_022162.2(NOD2): c.2774A> G (p.Asp925Gly) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50756592: 50756592
393 NOD2 NM_022162.2(NOD2): c.2774A> G (p.Asp925Gly) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50722681: 50722681
394 NOD2 NM_022162.2(NOD2): c.103C> T (p.Gln35Ter) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50699517: 50699517
395 NOD2 NM_022162.2(NOD2): c.103C> T (p.Gln35Ter) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50733428: 50733428
396 NOD2 NM_022162.2(NOD2): c.1028T> C (p.Leu343Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50710939: 50710939
397 NOD2 NM_022162.2(NOD2): c.1028T> C (p.Leu343Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50744850: 50744850
398 NOD2 NM_022162.2(NOD2): c.1151T> A (p.Phe384Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711062: 50711062
399 NOD2 NM_022162.2(NOD2): c.1151T> A (p.Phe384Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50744973: 50744973
400 NOD2 NM_022162.2(NOD2): c.1178G> A (p.Arg393His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711089: 50711089
401 NOD2 NM_022162.2(NOD2): c.1178G> A (p.Arg393His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745000: 50745000
402 NOD2 NM_022162.2(NOD2): c.1402C> A (p.Arg468Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711313: 50711313
403 NOD2 NM_022162.2(NOD2): c.1402C> A (p.Arg468Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745224: 50745224
404 NOD2 NM_022162.2(NOD2): c.1573G> A (p.Ala525Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711484: 50711484
405 NOD2 NM_022162.2(NOD2): c.1573G> A (p.Ala525Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745395: 50745395
406 NOD2 NM_022162.2(NOD2): c.1628G> A (p.Arg543His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711539: 50711539
407 NOD2 NM_022162.2(NOD2): c.1628G> A (p.Arg543His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745450: 50745450
408 NOD2 NM_022162.2(NOD2): c.2419G> A (p.Val807Met) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50712330: 50712330
409 NOD2 NM_022162.2(NOD2): c.2419G> A (p.Val807Met) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50746241: 50746241
410 NOD2 NM_022162.2(NOD2): c.406_407delAG (p.His137Profs) deletion Uncertain significance GRCh37 Chromosome 16, 50733731: 50733732
411 NOD2 NM_022162.2(NOD2): c.406_407delAG (p.His137Profs) deletion Uncertain significance GRCh38 Chromosome 16, 50699820: 50699821
412 NOD2 NM_022162.2(NOD2): c.1515delG (p.Ser506Profs) deletion Uncertain significance GRCh37 Chromosome 16, 50745337: 50745337
413 NOD2 NM_022162.2(NOD2): c.1515delG (p.Ser506Profs) deletion Uncertain significance GRCh38 Chromosome 16, 50711426: 50711426
414 NOD2 NM_022162.2(NOD2): c.1427C> A (p.Thr476Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745249: 50745249
415 NOD2 NM_022162.2(NOD2): c.1427C> A (p.Thr476Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711338: 50711338
416 NOD2 NM_022162.2(NOD2): c.1494A> C (p.Glu498Asp) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745316: 50745316
417 NOD2 NM_022162.2(NOD2): c.1494A> C (p.Glu498Asp) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711405: 50711405
418 NOD2 NM_022162.2(NOD2): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745582: 50745582
419 NOD2 NM_022162.2(NOD2): c.1760G> A (p.Arg587His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711671: 50711671
420 NOD2 NM_022162.2(NOD2): c.2279G> A (p.Arg760His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50746101: 50746101
421 NOD2 NM_022162.2(NOD2): c.2279G> A (p.Arg760His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50712190: 50712190
422 NOD2 NM_022162.2(NOD2): c.2883-9T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50759391: 50759391
423 NOD2 NM_022162.2(NOD2): c.2883-9T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50725480: 50725480
424 NOD2 NM_022162.2(NOD2): c.2010C> G (p.Asn670Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711921: 50711921
425 NOD2 NM_022162.2(NOD2): c.2010C> G (p.Asn670Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745832: 50745832
426 NOD2 NM_022162.2(NOD2): c.1610C> A (p.Pro537His) single nucleotide variant Uncertain significance GRCh37 Chromosome 16, 50745432: 50745432
427 NOD2 NM_022162.2(NOD2): c.1610C> A (p.Pro537His) single nucleotide variant Uncertain significance GRCh38 Chromosome 16, 50711521: 50711521

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:

38 (showing 1, show less)
# Name Kegg Source Accession
1 NOD-like receptor signaling pathway hsa04621

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

(showing 37, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
2
Show member pathways
12.44 IL1B MEFV NLRP3 NOD1 NOD2 TLR2
3
Show member pathways
12.33 IL1B NOD2 TLR2 TNF
4 12.29 IL1B NOD1 TLR2 TNF
5
Show member pathways
12.14 IL1B TLR2 TNF
6
Show member pathways
12.11 IL1B NOD1 NOD2
7
Show member pathways
12.06 IL1B TLR2 TNF
8
Show member pathways
12.03 IL1B TLR2 TNF
9
Show member pathways
12.01 IL1B NLRP3 TNF
10
Show member pathways
12.01 IL1B NLRP3 TNF
11
Show member pathways
11.98 IL1B TLR2 TNF
12 11.92 IL1B NOD2 TLR2 TNF
13
Show member pathways
11.85 IL1B TLR2 TNF
14
Show member pathways
11.82 IL1B TLR2 TNF
15 11.75 IL1B NOD2 TNF
16 11.68 IL1B TLR2 TNF
17 11.65 IL1B TLR2 TNF
18
Show member pathways
11.62 MEFV NLRP3 NOD1 NOD2
19 11.37 IL1B TLR2 TNF
20 11.36 IL1B TNF
21 11.35 IL1B TNF
22 11.34 IL1B NLRP3 NOD1 TNF
23 11.32 IL1B TNF
24
Show member pathways
11.3 IL1B TNF
25 11.3 IL1B TLR2 TNF
26 11.26 IL1B TLR2 TNF
27 11.23 NOD1 NOD2
28 11.22 IL1B TNF
29 11.19 IL1B TNF
30 11.15 IL1B TNF
31 11.13 IL1B TNF
32 11.1 IL1B TNF
33 10.98 NOD2 TNF
34 10.95 IL1B TNF
35 10.9 IL1B NLRP3 TLR2
36 10.77 IL1B TNF
37 10.63 IL1B MEFV NLRP3 NOD1 NOD2

GO Terms for Blau Syndrome

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

(showing 62, show less)
# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.97 MEFV NLRP3 NOD1 NOD2 TLR2
2 innate immune response GO:0045087 9.95 MEFV NLRP3 NOD1 NOD2 TLR2
3 defense response to bacterium GO:0042742 9.9 NOD1 NOD2 TNF
4 inflammatory response GO:0006954 9.88 IL1B MEFV NLRP3 NOD1 TLR2 TNF
5 negative regulation of inflammatory response GO:0050728 9.85 MEFV MVK NLRP3
6 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0006919 9.84 NLRP3 NOD1 TNF
7 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.84 IL1B NOD1 NOD2 TNF
8 protein complex oligomerization GO:0051259 9.82 NLRP3 NOD1 NOD2
9 cellular response to organic cyclic compound GO:0071407 9.81 IL1B NOD2 TNF
10 regulation of inflammatory response GO:0050727 9.81 NLRP3 NOD2 TNF
11 cellular response to lipopolysaccharide GO:0071222 9.81 IL1B NLRP3 NOD2 TNF
12 defense response GO:0006952 9.8 NLRP3 NOD1 NOD2 TNF
13 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.78 NOD1 NOD2 TNF
14 activation of MAPK activity GO:0000187 9.78 IL1B NOD1 NOD2 TNF
15 positive regulation of tumor necrosis factor production GO:0032760 9.77 NOD1 NOD2 TLR2
16 JNK cascade GO:0007254 9.77 NOD1 NOD2 TNF
17 interleukin-1-mediated signaling pathway GO:0070498 9.76 IL1B NOD1 NOD2
18 defense response to Gram-positive bacterium GO:0050830 9.76 NLRP3 NOD1 TLR2 TNF
19 positive regulation of interferon-gamma production GO:0032729 9.73 IL1B TNF
20 positive regulation of nitric oxide biosynthetic process GO:0045429 9.73 IL1B TNF
21 positive regulation of phagocytosis GO:0050766 9.73 IL1B TNF
22 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043280 9.73 NLRP3 NOD1 TNF
23 positive regulation of JNK cascade GO:0046330 9.73 IL1B NOD1 NOD2 TNF
24 protein kinase B signaling GO:0043491 9.72 IL1B TNF
25 negative regulation of extrinsic apoptotic signaling pathway in absence of ligand GO:2001240 9.72 IL1B TNF
26 positive regulation of interleukin-1 beta secretion GO:0050718 9.72 NLRP3 NOD2
27 negative regulation of neurogenesis GO:0050768 9.71 IL1B TNF
28 positive regulation of interleukin-10 production GO:0032733 9.71 NOD2 TLR2
29 nucleotide-binding oligomerization domain containing signaling pathway GO:0070423 9.71 NOD1 NOD2
30 positive regulation of chemokine production GO:0032722 9.71 TLR2 TNF
31 positive regulation of stress-activated MAPK cascade GO:0032874 9.71 NOD1 NOD2
32 microglial cell activation GO:0001774 9.7 TLR2 TNF
33 negative regulation of lipid catabolic process GO:0050995 9.7 IL1B TNF
34 positive regulation of glial cell proliferation GO:0060252 9.7 IL1B TNF
35 regulation of I-kappaB kinase/NF-kappaB signaling GO:0043122 9.7 IL1B TNF
36 lipopolysaccharide-mediated signaling pathway GO:0031663 9.7 IL1B TLR2 TNF
37 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.69 IL1B TNF
38 positive regulation of heterotypic cell-cell adhesion GO:0034116 9.69 IL1B TNF
39 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.69 NOD2 TLR2
40 positive regulation of interleukin-1 beta production GO:0032731 9.68 NOD1 NOD2
41 cellular response to muramyl dipeptide GO:0071225 9.68 NOD1 NOD2
42 detection of bacterium GO:0016045 9.67 NOD1 NOD2
43 positive regulation of chemokine biosynthetic process GO:0045080 9.67 IL1B TNF
44 positive regulation of interleukin-8 production GO:0032757 9.67 IL1B NOD2 TLR2 TNF
45 positive regulation of dendritic cell antigen processing and presentation GO:0002606 9.66 NOD1 NOD2
46 regulation of establishment of endothelial barrier GO:1903140 9.66 IL1B TNF
47 cellular response to peptidoglycan GO:0071224 9.65 NLRP3 NOD2
48 positive regulation of neuroinflammatory response GO:0150078 9.65 IL1B TNF
49 positive regulation of type 2 immune response GO:0002830 9.65 NLRP3 NOD2
50 interleukin-1 beta production GO:0032611 9.63 IL1B NLRP3
51 positive regulation of fever generation GO:0031622 9.62 IL1B TNF
52 sequestering of triglyceride GO:0030730 9.61 IL1B TNF
53 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.58 IL1B TNF
54 positive regulation of interleukin-6 production GO:0032755 9.55 IL1B NOD1 NOD2 TLR2 TNF
55 cytokine secretion involved in immune response GO:0002374 9.5 NLRP3 NOD2 TLR2
56 positive regulation of JUN kinase activity GO:0043507 9.43 TNF
57 detection of biotic stimulus GO:0009595 9.43 NLRP3 NOD1 NOD2
58 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.35 IL1B NOD1 NOD2 TLR2 TNF
59 chronic inflammatory response to antigenic stimulus GO:0002439 9.32 TNF
60 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.1 IL1B NLRP3 NOD1 NOD2 TLR2 TNF
61 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 IL1B NLRP3 NOD2 TLR2 TNF
62 apoptotic process GO:0006915 10.02 IL1B NLRP3 NOD1 TLR2

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

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.43 NOD1 NOD2 TLR2
2 identical protein binding GO:0042802 9.43 MEFV MVK NLRP3 NOD1 TLR2 TNF
3 CARD domain binding GO:0050700 9.16 NOD1 NOD2
4 peptidoglycan binding GO:0042834 8.92 NLRP3 NOD1 NOD2 TLR2

Sources for Blau Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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