Familial Mediterranean Fever Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
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)
External Link https://www.disgenet.org/browser/0/1/0/C0031069
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Genes

129 genes associated with the disease Familial Mediterranean Fever in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ADA2 adenosine deaminase 2
ADIPOQ adiponectin, C1Q and collagen domain containing
AFP alpha-fetoprotein
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AHSG alpha-2-HS-glycoprotein
AICDA activation-induced cytidine deaminase
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
APCS amyloid P component, serum
C5 complement component 5
C5AR1 complement component 5a receptor 1
C5AR2 complement component 5a receptor 2
CAMP cathelicidin antimicrobial peptide
CARD14 caspase recruitment domain family, member 14
CASP1 caspase 1, apoptosis-related cysteine peptidase
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CD14 CD14 molecule
CD1A CD1a molecule
CD1C CD1c molecule
CHIT1 chitinase 1 (chitotriosidase)
CISH cytokine inducible SH2-containing protein
COL9A1 collagen, type IX, alpha 1
COL9A2 collagen, type IX, alpha 2
COL9A3 collagen, type IX, alpha 3
COMP cartilage oligomeric matrix protein
CPB2 carboxypeptidase B2 (plasma)
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR2 chemokine (C-X-C motif) receptor 2
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
DDIT4 DNA-damage-inducible transcript 4
ELF4 E74-like factor 4 (ets domain transcription factor)
ERAL1 Era-like 12S mitochondrial rRNA chaperone 1
ESR1 estrogen receptor 1
F5 coagulation factor V (proaccelerin, labile factor)
FASLG Fas ligand (TNF superfamily, member 6)
FCGR1A Fc fragment of IgG, high affinity Ia, receptor (CD64)
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXP3 forkhead box P3
GEM GTP binding protein overexpressed in skeletal muscle
GJB2 gap junction protein, beta 2, 26kDa
GLA galactosidase, alpha
GLO1 glyoxalase I
GPX1 glutathione peroxidase 1
GRAP2 GRB2-related adaptor protein 2
GSDMD gasdermin D
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HLA-C major histocompatibility complex, class I, C
HLA-G major histocompatibility complex, class I, G
IFNA2 interferon, alpha 2
IL10 interleukin 10
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
JAK2 Janus kinase 2
KIDINS220 kinase D-interacting substrate, 220kDa
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LMX1B LIM homeobox transcription factor 1, beta
LPIN2 lipin 2
LYZ lysozyme
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK7 mitogen-activated protein kinase 7
MEFV Mediterranean fever
MICA MHC class I polypeptide-related sequence A
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MVK mevalonate kinase
NLRP12 NLR family, pyrin domain containing 12
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
OCA2 oculocutaneous albinism II
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKN1 protein kinase N1
PLG plasminogen
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PON1 paraoxonase 1
PRKCA protein kinase C, alpha
PRKCB protein kinase C, beta
PRNP prion protein
PRRT2 proline-rich transmembrane protein 2
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PYCARD PYD and CARD domain containing
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RNPC3 RNA-binding region (RNP1, RRM) containing 3
S100A1 S100 calcium binding protein A1
S100A12 S100 calcium binding protein A12
S100B S100 calcium binding protein B
SAA1 serum amyloid A1
SAA2 serum amyloid A2
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SEC23B Sec23 homolog B (S. cerevisiae)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SIVA1 SIVA1, apoptosis-inducing factor
STING1 stimulator of interferon response cGAMP interactor 1
STS steroid sulfatase (microsomal), isozyme S
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
THBD thrombomodulin
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TMEM206 transmembrane protein 206
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TRIM21 tripartite motif containing 21
TRIM38 tripartite motif containing 38
TRIM5 tripartite motif containing 5
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase