Febrile Convulsions Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1858493
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Genes

180 genes associated with the disease Febrile Convulsions 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
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACHE acetylcholinesterase (Yt blood group)
ACTB actin, beta
ADGRV1 adhesion G protein-coupled receptor V1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANO3 anoctamin 3
AP3M2 adaptor-related protein complex 3, mu 2 subunit
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
ARID1A AT rich interactive domain 1A (SWI-like)
ARX aristaless related homeobox
ASXL2 additional sex combs like transcriptional regulator 2
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
AUH AU RNA binding protein/enoyl-CoA hydratase
AVP arginine vasopressin
BAX BCL2-associated X protein
BDNF brain-derived neurotrophic factor
C3 complement component 3
CA11 carbonic anhydrase XI
CA3 carbonic anhydrase III
CA7 carbonic anhydrase VII
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1H calcium channel, voltage-dependent, T type, alpha 1H subunit
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CALB2 calbindin 2
CAPNS2 calpain, small subunit 2
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CASP12 caspase 12 (gene/pseudogene)
CD46 CD46 molecule, complement regulatory protein
CDKL5 cyclin-dependent kinase-like 5
CHAT choline O-acetyltransferase
CHD2 chromodomain helicase DNA binding protein 2
CHPF chondroitin polymerizing factor
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CLCN2 chloride channel, voltage-sensitive 2
CLCN6 chloride channel, voltage-sensitive 6
CNR1 cannabinoid receptor 1 (brain)
COX2
CPA6 carboxypeptidase A6
CPLX1 complexin 1
CRH corticotropin releasing hormone
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSNK1G2 casein kinase 1, gamma 2
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DPP4 dipeptidyl-peptidase 4
DPT dermatopontin
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFHC1 EF-hand domain (C-terminal) containing 1
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EMP1 epithelial membrane protein 1
ENOSF1 enolase superfamily member 1
ERLIN2 ER lipid raft associated 2
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
GABBR1 gamma-aminobutyric acid (GABA) B receptor, 1
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GABRA5 gamma-aminobutyric acid (GABA) A receptor, alpha 5
GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GCG glucagon
GKN1 gastrokine 1
GLP1R glucagon-like peptide 1 receptor
GLS glutaminase
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GOT1 glutamic-oxaloacetic transaminase 1, soluble
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2
GRIN1 glutamate receptor, ionotropic, N-methyl D-aspartate 1
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRIN2B glutamate receptor, ionotropic, N-methyl D-aspartate 2B
GRM1 glutamate receptor, metabotropic 1
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HEMGN hemogen
HMGB1 high mobility group box 1
HRC histidine rich calcium binding protein
HS6ST2 heparan sulfate 6-O-sulfotransferase 2
ICK intestinal cell (MAK-like) kinase
IFI44L interferon-induced protein 44-like
IFNA1 interferon, alpha 1
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IL10 interleukin 10
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
IL6R interleukin 6 receptor
IMPA2 inositol(myo)-1(or 4)-monophosphatase 2
JRK Jrk homolog (mouse)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3
KCTD7 potassium channel tetramerization domain containing 7
LAMC2 laminin, gamma 2
LGI1 leucine-rich, glioma inactivated 1
MARCHF1 membrane associated ring-CH-type finger 1
MBD5 methyl-CpG binding domain protein 5
MBOAT7 membrane bound O-acyltransferase domain containing 7
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MEFV Mediterranean fever
MMP9 matrix metallopeptidase 9
MRC1 mannose receptor, C type 1
NEUROD2 neuronal differentiation 2
NFYC nuclear transcription factor Y, gamma
NLRP3 NLR family, pyrin domain containing 3
NPY neuropeptide Y
P2RX1 purinergic receptor P2X, ligand gated ion channel, 1
P2RX2 purinergic receptor P2X, ligand gated ion channel, 2
P2RX3 purinergic receptor P2X, ligand gated ion channel, 3
P2RX4 purinergic receptor P2X, ligand gated ion channel, 4
P2RX5 purinergic receptor P2X, ligand gated ion channel, 5
P2RX6 purinergic receptor P2X, ligand gated ion channel, 6
P2RX7 purinergic receptor P2X, ligand gated ion channel, 7
P2RY1 purinergic receptor P2Y, G-protein coupled, 1
P2RY2 purinergic receptor P2Y, G-protein coupled, 2
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PCDH19 protocadherin 19
PHIP pleckstrin homology domain interacting protein
PIGH phosphatidylinositol glycan anchor biosynthesis, class H
PIGP phosphatidylinositol glycan anchor biosynthesis, class P
PIGQ phosphatidylinositol glycan anchor biosynthesis, class Q
PNKP polynucleotide kinase 3'-phosphatase
POGZ pogo transposable element with ZNF domain
PREX2 phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2
PRKCD protein kinase C, delta
PRRT2 proline-rich transmembrane protein 2
PTGER3 prostaglandin E receptor 3 (subtype EP3)
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTK2B protein tyrosine kinase 2 beta
RECQL4 RecQ protein-like 4
RIT1 Ras-like without CAAX 1
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RSRC1 arginine/serine-rich coiled-coil 1
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCN9A sodium channel, voltage gated, type IX alpha subunit
SETD5 SET domain containing 5
SEZ6 seizure related 6 homolog (mouse)
SIK1 salt-inducible kinase 1
SLC12A5 solute carrier family 12 (potassium/chloride transporter), member 5
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC30A3 solute carrier family 30 (zinc transporter), member 3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC6A1 solute carrier family 6 (neurotransmitter transporter), member 1
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC8A3 solute carrier family 8 (sodium/calcium exchanger), member 3
SOX2 SRY (sex determining region Y)-box 2
SPARC secreted protein, acidic, cysteine-rich (osteonectin)
SRPX2 sushi-repeat containing protein, X-linked 2
STK38 serine/threonine kinase 38
STX1B syntaxin 1B
STXBP1 syntaxin binding protein 1
TBC1D24 TBC1 domain family, member 24
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBCD tubulin folding cofactor D
TGFB1 transforming growth factor, beta 1
TIMP1 TIMP metallopeptidase inhibitor 1
TNF tumor necrosis factor
TRIM8 tripartite motif containing 8
TRPC3 transient receptor potential cation channel, subfamily C, member 3
TRPV1 transient receptor potential cation channel, subfamily V, member 1
VPS11 vacuolar protein sorting 11 homolog (S. cerevisiae)
VWF von Willebrand factor
ZBED1 zinc finger, BED-type containing 1
ZGLP1 zinc finger, GATA-like protein 1