Mucocutaneous Lymph Node Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0026691
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Genes

336 genes associated with the disease Mucocutaneous Lymph Node Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCC11 ATP-binding cassette, sub-family C (CFTR/MRP), member 11
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABHD16A abhydrolase domain containing 16A
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACHE acetylcholinesterase (Yt blood group)
ADA adenosine deaminase
ADA2 adenosine deaminase 2
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADM adrenomedullin
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIF1 allograft inflammatory factor 1
AIM2 absent in melanoma 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALB albumin
AMACR alpha-methylacyl-CoA racemase
ANGPT1 angiopoietin 1
ANGPT2 angiopoietin 2
ANP32B acidic (leucine-rich) nuclear phosphoprotein 32 family, member B
APOB apolipoprotein B
AQP1 aquaporin 1 (Colton blood group)
ATP5J2-PTCD1 ATP5J2-PTCD1 readthrough
ATP5MF ATP synthase membrane subunit f
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
BECN1 beclin 1, autophagy related
BLK BLK proto-oncogene, Src family tyrosine kinase
BPTF bromodomain PHD finger transcription factor
BTNL2 butyrophilin-like 2
BUD31 BUD31 homolog (S. cerevisiae)
C1QTNF1 C1q and tumor necrosis factor related protein 1
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CASP4 caspase 4, apoptosis-related cysteine peptidase
CAT catalase
CCL17 chemokine (C-C motif) ligand 17
CCL2 chemokine (C-C motif) ligand 2
CCL3L1 chemokine (C-C motif) ligand 3-like 1
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCL5 chemokine (C-C motif) ligand 5
CCN2 cellular communication network factor 2
CCR2 chemokine (C-C motif) receptor 2
CCR3 chemokine (C-C motif) receptor 3
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD14 CD14 molecule
CD177 CD177 molecule
CD209 CD209 molecule
CD24 CD24 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD68 CD68 molecule
CD84 CD84 molecule
CDH22 cadherin 22, type 2
CEACAM5 carcinoembryonic antigen-related cell adhesion molecule 5
CENPU centromere protein U
CERS6 ceramide synthase 6
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CLEC6A C-type lectin domain family 6, member A
CLEC7A C-type lectin domain family 7, member A
COL11A2 collagen, type XI, alpha 2
COPB2 coatomer protein complex, subunit beta 2 (beta prime)
COX2
CRP C-reactive protein, pentraxin-related
CSF3 colony stimulating factor 3 (granulocyte)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL2 chemokine (C-X-C motif) ligand 2
CXCL8 chemokine (C-X-C motif) ligand 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DAB1 Dab, reelin signal transducer, homolog 1 (Drosophila)
EBF2 early B-cell factor 2
ELAVL2 ELAV like neuron-specific RNA binding protein 2
ELN elastin
EPHB2 EPH receptor B2
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
FBLIM1 filamin binding LIM protein 1
FCER2 Fc fragment of IgE, low affinity II, receptor for (CD23)
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2B Fc fragment of IgG, low affinity IIb, receptor (CD32)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FCMR Fc fragment of IgM receptor
FCN1 ficolin (collagen/fibrinogen domain containing) 1
FGF21 fibroblast growth factor 21
FGF23 fibroblast growth factor 23
FHAD1 forkhead-associated (FHA) phosphopeptide binding domain 1
FIGF c-fos induced growth factor (vascular endothelial growth factor D)
FLT1 fms-related tyrosine kinase 1
FOXP3 forkhead box P3
FUT1 fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GATA3 GATA binding protein 3
GCA grancalcin, EF-hand calcium binding protein
GGCT gamma-glutamylcyclotransferase
GLB1 galactosidase, beta 1
GLS glutaminase
GOPC golgi-associated PDZ and coiled-coil motif containing
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GSDMD gasdermin D
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAMP hepcidin antimicrobial peptide
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DOA major histocompatibility complex, class II, DO alpha
HLA-DOB major histocompatibility complex, class II, DO beta
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB2 major histocompatibility complex, class II, DQ beta 2
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-E major histocompatibility complex, class I, E
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HMOX1 heme oxygenase 1
HP haptoglobin
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSPA14 heat shock 70kDa protein 14
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPD1 heat shock 60kDa protein 1 (chaperonin)
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IGF1R insulin-like growth factor 1 receptor
IL10 interleukin 10
IL12B interleukin 12B
IL15 interleukin 15
IL17A interleukin 17A
IL17D interleukin 17D
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RAP interleukin 1 receptor accessory protein
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL27 interleukin 27
IL2RA interleukin 2 receptor, alpha
IL31 interleukin 31
IL4 interleukin 4
IL6 interleukin 6
IL6ST interleukin 6 signal transducer
IL7 interleukin 7
INSR insulin receptor
IRF8 interferon regulatory factor 8
ISG20 interferon stimulated exonuclease gene 20kDa
ITPKC inositol-trisphosphate 3-kinase C
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
JAG1 jagged 1
KAT2A K(lysine) acetyltransferase 2A
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KDR kinase insert domain receptor
KIR2DL2 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2
KIR2DS2 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRK1 killer cell lectin-like receptor subfamily K, member 1
LCE3B late cornified envelope 3B
LCE3C late cornified envelope 3C
LDHA lactate dehydrogenase A
LDLRAD3 low density lipoprotein receptor class A domain containing 3
LILRB4 leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4
LRG1 leucine-rich alpha-2-glycoprotein 1
LTA lymphotoxin alpha
MAP2K7 mitogen-activated protein kinase kinase 7
MAP7 microtubule-associated protein 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MBL2 mannose-binding lectin (protein C) 2, soluble
MDGA1 MAM domain containing glycosylphosphatidylinositol anchor 1
MED30 mediator complex subunit 30
MEFV Mediterranean fever
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MIA melanoma inhibitory activity
MICB MHC class I polypeptide-related sequence B
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP11 matrix metallopeptidase 11
MMP12 matrix metallopeptidase 12
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MPO myeloperoxidase
MYDGF myeloid-derived growth factor
MYO5B myosin VB
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
NCAM1 neural cell adhesion molecule 1
NCOA1 nuclear receptor coactivator 1
NEBL nebulette
NECTIN1 nectin cell adhesion molecule 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NFATC2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2
NGF nerve growth factor (beta polypeptide)
NLRC4 NLR family, CARD domain containing 4
NLRP1 NLR family, pyrin domain containing 1
NLRP12 NLR family, pyrin domain containing 12
NLRP14 NLR family, pyrin domain containing 14
NLRP3 NLR family, pyrin domain containing 3
NLRX1 NLR family member X1
NMNAT2 nicotinamide nucleotide adenylyltransferase 2
NOD1 nucleotide-binding oligomerization domain containing 1
NOS2 nitric oxide synthase 2, inducible
NOTCH4 notch 4
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A2 nuclear receptor subfamily 4, group A, member 2
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
OR10A4 olfactory receptor, family 10, subfamily A, member 4
ORAI1 ORAI calcium release-activated calcium modulator 1
OTX2 orthodenticle homeobox 2
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PBK PDZ binding kinase
PDCD1 programmed cell death 1
PDE2A phosphodiesterase 2A, cGMP-stimulated
PEAR1 platelet endothelial aggregation receptor 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PELI1 pellino E3 ubiquitin protein ligase 1
PGK1 phosphoglycerate kinase 1
PHLPP1 PH domain and leucine rich repeat protein phosphatase 1
PLA2G7 phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
PLCB4 phospholipase C, beta 4
POSTN periostin, osteoblast specific factor
POT1 protection of telomeres 1
PPARD peroxisome proliferator-activated receptor delta
PPARG peroxisome proliferator-activated receptor gamma
PREX1 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
PRF1 perforin 1 (pore forming protein)
PRRC2A proline-rich coiled-coil 2A
PTCD1 pentatricopeptide repeat domain 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTX3 pentraxin 3, long
PYCARD PYD and CARD domain containing
RBM45 RNA binding motif protein 45
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RETN resistin
RPL17 ribosomal protein L17
RPL17-C18ORF32 RPL17-C18orf32 readthrough
S100A12 S100 calcium binding protein A12
S100A8 S100 calcium binding protein A8
S100A9 S100 calcium binding protein A9
SAG S-antigen; retina and pineal gland (arrestin)
SAMD9L sterile alpha motif domain containing 9-like
SCN3A sodium channel, voltage gated, type III alpha subunit
SDC1 syndecan 1
SELE selectin E
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SEMA3B sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B
SEMA6A sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A
SEPT7 septin 7
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SETBP1 SET binding protein 1
SFXN1 sideroflexin 1
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SIX1 SIX homeobox 1
SLC11A1 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1
SLC35F5 solute carrier family 35, member F5
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SMAD1 SMAD family member 1
SMAD3 SMAD family member 3
SMAD5 SMAD family member 5
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOCS3 suppressor of cytokine signaling 3
SP140 SP140 nuclear body protein
SPAG9 sperm associated antigen 9
SPATA2 spermatogenesis associated 2
SRC SRC proto-oncogene, non-receptor tyrosine kinase
ST6GAL1 ST6 beta-galactosamide alpha-2,6-sialyltranferase 1
STAT1 signal transducer and activator of transcription 1, 91kDa
STOML1 stomatin (EPB72)-like 1
STS steroid sulfatase (microsomal), isozyme S
SUCO SUN domain containing ossification factor
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
SYT1 synaptotagmin I
SYTL1 synaptotagmin-like 1
TAC1 tachykinin, precursor 1
TBXA2R thromboxane A2 receptor
TECRL trans-2,3-enoyl-CoA reductase-like
TET2 tet methylcytosine dioxygenase 2
TFRC transferrin receptor
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THBD thrombomodulin
TIFAB TRAF-interacting protein with forkhead-associated domain, family member B
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP4 TIMP metallopeptidase inhibitor 4
TLR1 toll-like receptor 1
TLR2 toll-like receptor 2
TLR4 toll-like receptor 4
TLR6 toll-like receptor 6
TNC tenascin C
TNF tumor necrosis factor
TNFAIP3 tumor necrosis factor, alpha-induced protein 3
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF4 tumor necrosis factor receptor superfamily, member 4
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNFSF4 tumor necrosis factor (ligand) superfamily, member 4
TP53 tumor protein p53
TPH2 tryptophan hydroxylase 2
TRIP10 thyroid hormone receptor interactor 10
TUBA3C tubulin, alpha 3c
TYK2 tyrosine kinase 2
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
ULBP1 UL16 binding protein 1
UTS2 urotensin 2
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VEGFA vascular endothelial growth factor A
VEGFC vascular endothelial growth factor C
VKORC1 vitamin K epoxide reductase complex, subunit 1
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
VWF von Willebrand factor
WDR1 WD repeat domain 1
WNK1 WNK lysine deficient protein kinase 1
ZBP1 Z-DNA binding protein 1
ZEB1 zinc finger E-box binding homeobox 1
ZNF618 zinc finger protein 618
ZSCAN25 zinc finger and SCAN domain containing 25