Familial Mediterranean Fever Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A hypersensitivity reaction type II disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; caused by mutations in the MEFV gene, which encodes the protein pyrin. (Human Disease Ontology, DOID_2987)
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Genes

61 genes associated with the Familial Mediterranean Fever phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ACE angiotensin I converting enzyme
C5AR1 complement component 5a receptor 1
CASP1 caspase 1, apoptosis-related cysteine peptidase
CCR1 chemokine (C-C motif) receptor 1
CD14 CD14 molecule
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
ERAP1 endoplasmic reticulum aminopeptidase 1
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
GPX1 glutathione peroxidase 1
HLA-B major histocompatibility complex, class I, B
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
IL10 interleukin 10
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL23R interleukin 23 receptor
IL4 interleukin 4
IL6 interleukin 6
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DL4 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
KIR2DL5A killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
KIR2DP1 killer cell immunoglobulin-like receptor, two domains, pseudogene 1
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR2DS3 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3
KIR2DS4 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4
KIR2DS5 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KIR3DL3 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3
KIR3DP1 killer cell immunoglobulin-like receptor, three domains, pseudogene 1
KIR3DS1 killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KLRC2 killer cell lectin-like receptor subfamily C, member 2
KLRC3 killer cell lectin-like receptor subfamily C, member 3
KLRC4 killer cell lectin-like receptor subfamily C, member 4
KLRK1 killer cell lectin-like receptor subfamily K, member 1
MEFV Mediterranean fever
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MVK mevalonate kinase
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
PON1 paraoxonase 1
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PYCARD PYD and CARD domain containing
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
STAT4 signal transducer and activator of transcription 4
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
VEGFA vascular endothelial growth factor A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase