abnormal circulating interleukin-1 beta level Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the amount in the blood of an interleukin-1 subtype that is synthesized as an inactive membrane-bound pro-protein on monocytes, macrophages and other cells; proteolytic processing of the precursor form by caspase 1 results in release of the active form of interleukin-1beta from the membrane (Mammalian Phenotype Ontology, MP_0008640)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0008640
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Genes

39 gene mutations causing the abnormal circulating interleukin-1 beta level phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATG16L1 autophagy related 16-like 1 (S. cerevisiae)
BRD2 bromodomain containing 2
C3AR1 complement component 3a receptor 1
CASP4 caspase 4, apoptosis-related cysteine peptidase
CTSE cathepsin E
F3 coagulation factor III (thromboplastin, tissue factor)
GBP5 guanylate binding protein 5
IFIT2 interferon-induced protein with tetratricopeptide repeats 2
IL10 interleukin 10
IL10RA interleukin 10 receptor, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL27RA interleukin 27 receptor, alpha
IL6R interleukin 6 receptor
LDLR low density lipoprotein receptor
LIF leukemia inhibitory factor
MEFV Mediterranean fever
MEP1A meprin A, alpha (PABA peptide hydrolase)
NCOA3 nuclear receptor coactivator 3
NFE2L2 nuclear factor, erythroid 2-like 2
NFKBIB nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta
NLRP3 NLR family, pyrin domain containing 3
PARP1 poly (ADP-ribose) polymerase 1
PCSK1 proprotein convertase subtilisin/kexin type 1
PILRB paired immunoglobin-like type 2 receptor beta
PRF1 perforin 1 (pore forming protein)
PRKCE protein kinase C, epsilon
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PYCARD PYD and CARD domain containing
RAB27A RAB27A, member RAS oncogene family
SMG1 SMG1 phosphatidylinositol 3-kinase-related kinase
SOCS2 suppressor of cytokine signaling 2
STX11 syntaxin 11
TBK1 TANK-binding kinase 1
THBD thrombomodulin
TLR2 toll-like receptor 2
TNF tumor necrosis factor
TNFAIP8L2 tumor necrosis factor, alpha-induced protein 8-like 2
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
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