Mucocutaneous Lymph Node Syndrome Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. (Human Disease Ontology, DOID_13378)
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Genes

111 genes associated with the Mucocutaneous Lymph Node Syndrome phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCC4 ATP-binding cassette, sub-family C (CFTR/MRP), member 4
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
AGER advanced glycosylation end product-specific receptor
AGTR1 angiotensin II receptor, type 1
ANGPT1 angiopoietin 1
BAG6 BCL2-associated athanogene 6
BLK BLK proto-oncogene, Src family tyrosine kinase
BTNL2 butyrophilin-like 2
C2 complement component 2
CAMK2D calcium/calmodulin-dependent protein kinase II delta
CASP3 caspase 3, apoptosis-related cysteine peptidase
CCL17 chemokine (C-C motif) ligand 17
CCL3L1 chemokine (C-C motif) ligand 3-like 1
CCL5 chemokine (C-C motif) ligand 5
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
CD209 CD209 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CLEC5A C-type lectin domain family 5, member A
COL11A2 collagen, type XI, alpha 2
CSMD1 CUB and Sushi multiple domains 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CXCR2 chemokine (C-X-C motif) receptor 2
FAM167A family with sequence similarity 167, member A
FCGR2A Fc fragment of IgG, low affinity IIa, receptor (CD32)
FCGR2C Fc fragment of IgG, low affinity IIc, receptor for (CD32) (gene/pseudogene)
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGB fibrinogen beta chain
FGF23 fibroblast growth factor 23
FUT2 fucosyltransferase 2 (secretor status included)
FUT3 fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group)
HCGVIII-2 HCGVIII-2 pseudogene
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-DPB1 major histocompatibility complex, class II, DP beta 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
HMOX1 heme oxygenase 1
HSPA1A heat shock 70kDa protein 1A
HSPA1B heat shock 70kDa protein 1B
HSPA1L heat shock 70kDa protein 1-like
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
ITPKC inositol-trisphosphate 3-kinase C
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
KCNN2 potassium channel, calcium activated intermediate/small conductance subfamily N alpha, member 2
KDR kinase insert domain receptor
LNX1 ligand of numb-protein X 1, E3 ubiquitin protein ligase
LTA lymphotoxin alpha
MBL2 mannose-binding lectin (protein C) 2, soluble
MEFV Mediterranean fever
MIA melanoma inhibitory activity
MICB MHC class I polypeptide-related sequence B
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MMP1 matrix metallopeptidase 1
MMP11 matrix metallopeptidase 11
MMP12 matrix metallopeptidase 12
MMP13 matrix metallopeptidase 13
MMP2 matrix metallopeptidase 2
MMP26 matrix metallopeptidase 26
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MSH5 mutS homolog 5
NAALADL2 N-acetylated alpha-linked acidic dipeptidase-like 2
NLRP1 NLR family, pyrin domain containing 1
NOD1 nucleotide-binding oligomerization domain containing 1
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
ORAI1 ORAI calcium release-activated calcium modulator 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PDCD1 programmed cell death 1
PELI1 pellino E3 ubiquitin protein ligase 1
PPP1R14C protein phosphatase 1, regulatory (inhibitor) subunit 14C
PRRC2A proline-rich coiled-coil 2A
PSORS1C1 psoriasis susceptibility 1 candidate 1
RAB4B RAB4B, member RAS oncogene family
SELE selectin E
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SMAD3 SMAD family member 3
SMAD5 SMAD family member 5
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TCP1 t-complex 1
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP4 TIMP metallopeptidase inhibitor 4
TNF tumor necrosis factor
TNFRSF10A tumor necrosis factor receptor superfamily, member 10a
TPH2 tryptophan hydroxylase 2
UGT1A9 UDP glucuronosyltransferase 1 family, polypeptide A9
VEGFA vascular endothelial growth factor A
VWA7 von Willebrand factor A domain containing 7
ZFHX3 zinc finger homeobox 3