blau syndrome Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description An autosomal dominant disease characterized by familial granulomatous arthritis, uveitis and skin granulomas caused_by NOD2/CARD15 mutations. (Human Disease Ontology, DOID_0050678)
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Genes

27 genes co-occuring with the disease blau syndrome in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
NOD2 nucleotide-binding oligomerization domain containing 2 2.72661
NOD1 nucleotide-binding oligomerization domain containing 1 1.85729
NLRP3 NLR family, pyrin domain containing 3 1.19489
ATN1 atrophin 1 1.15368
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 1.09881
MEFV Mediterranean fever 1.05345
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 1.01174
IL1RN interleukin 1 receptor antagonist 0.961216
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 0.831508
NLRP12 NLR family, pyrin domain containing 12 0.666755
TLR2 toll-like receptor 2 0.617877
RIPK2 receptor-interacting serine-threonine kinase 2 0.597571
BBOX1 butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 0.585108
CARD17 caspase recruitment domain family, member 17 0.581606
NAIP NLR family, apoptosis inhibitory protein 0.570718
IL1B interleukin 1, beta 0.524974
MVK mevalonate kinase 0.499231
MYD88 myeloid differentiation primary response 88 0.407545
PTMS parathymosin 0.403438
IL1R1 interleukin 1 receptor, type I 0.402318
TLR4 toll-like receptor 4 0.360764
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B 0.334315
BIRC2 baculoviral IAP repeat containing 2 0.293694
BIRC3 baculoviral IAP repeat containing 3 0.208245
TNF tumor necrosis factor 0.200006
NELFCD negative elongation factor complex member C/D 0.170054
CD68 CD68 molecule 0.164359