Complete Atrioventricular Block Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0151517
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Genes

357 genes associated with the disease Complete Atrioventricular Block 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
ACE angiotensin I converting enzyme
ACVR2B activin A receptor, type IIB
ADAM17 ADAM metallopeptidase domain 17
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAR adenosine deaminase, RNA-specific
ADCYAP1 adenylate cyclase activating polypeptide 1 (pituitary)
ADIPOQ adiponectin, C1Q and collagen domain containing
ADO 2-aminoethanethiol (cysteamine) dioxygenase
AFP alpha-fetoprotein
AIM2 absent in melanoma 2
ALB albumin
ANGPT2 angiopoietin 2
ANGPTL2 angiopoietin-like 2
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOBEC3A apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A
APOBEC3G apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G
APOC3 apolipoprotein C-III
AQP4 aquaporin 4
ARFGEF1 ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)
ARHGAP4 Rho GTPase activating protein 4
ARID2 AT rich interactive domain 2 (ARID, RFX-like)
ARNTL2 aryl hydrocarbon receptor nuclear translocator-like 2
ATF6 activating transcription factor 6
ATN1 atrophin 1
ATP5IF1 ATP synthase inhibitory factor subunit 1
BATF basic leucine zipper transcription factor, ATF-like
BCL2 B-cell CLL/lymphoma 2
BGN biglycan
C2 complement component 2
C3 complement component 3
CALCR calcitonin receptor
CALR calreticulin
CASP1 caspase 1, apoptosis-related cysteine peptidase
CAT catalase
CCL11 chemokine (C-C motif) ligand 11
CCL24 chemokine (C-C motif) ligand 24
CCL26 chemokine (C-C motif) ligand 26
CCL5 chemokine (C-C motif) ligand 5
CCN2 cellular communication network factor 2
CCR8 chemokine (C-C motif) receptor 8
CD14 CD14 molecule
CD163 CD163 molecule
CD244 CD244 molecule, natural killer cell receptor 2B4
CD248 CD248 molecule, endosialin
CD274 CD274 molecule
CD276 CD276 molecule
CD28 CD28 molecule
CD34 CD34 molecule
CD36 CD36 molecule (thrombospondin receptor)
CD40 CD40 molecule, TNF receptor superfamily member 5
CD69 CD69 molecule
CD86 CD86 molecule
CDKN2A cyclin-dependent kinase inhibitor 2A
CDO1 cysteine dioxygenase type 1
CHDH choline dehydrogenase
CHI3L1 chitinase 3-like 1 (cartilage glycoprotein-39)
CIITA class II, major histocompatibility complex, transactivator
CISH cytokine inducible SH2-containing protein
CLTC clathrin, heavy chain (Hc)
CNR1 cannabinoid receptor 1 (brain)
CNR2 cannabinoid receptor 2 (macrophage)
COX5A cytochrome c oxidase subunit Va
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CP ceruloplasmin (ferroxidase)
CPB2 carboxypeptidase B2 (plasma)
CPOX coproporphyrinogen oxidase
CR1 complement component (3b/4b) receptor 1 (Knops blood group)
CRP C-reactive protein, pentraxin-related
CST3 cystatin C
CTHRC1 collagen triple helix repeat containing 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CUX1 cut-like homeobox 1
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL12 chemokine (C-X-C motif) ligand 12
CXCL13 chemokine (C-X-C motif) ligand 13
CXCL6 chemokine (C-X-C motif) ligand 6
CXCL8 chemokine (C-X-C motif) ligand 8
CXCL9 chemokine (C-X-C motif) ligand 9
CXCR1 chemokine (C-X-C motif) receptor 1
CXCR3 chemokine (C-X-C motif) receptor 3
CXCR5 chemokine (C-X-C motif) receptor 5
CYBB cytochrome b-245, beta polypeptide
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DCK deoxycytidine kinase
DDX58 DEAD (Asp-Glu-Ala-Asp) box polypeptide 58
DES desmin
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DNMT3A DNA (cytosine-5-)-methyltransferase 3 alpha
DSTN destrin (actin depolymerizing factor)
EBI3 Epstein-Barr virus induced 3
EHMT2 euchromatic histone-lysine N-methyltransferase 2
EP400 E1A binding protein p400
EPAS1 endothelial PAS domain protein 1
EPHA1 EPH receptor A1
EPO erythropoietin
ERV3-1 endogenous retrovirus group 3, member 1
ESR1 estrogen receptor 1
EXTL3 exostosin-like glycosyltransferase 3
F11 coagulation factor XI
F2 coagulation factor II (thrombin)
FABP4 fatty acid binding protein 4, adipocyte
FAS Fas cell surface death receptor
FBL fibrillarin
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FCN2 ficolin (collagen/fibrinogen domain containing lectin) 2
FGF21 fibroblast growth factor 21
FGL2 fibrinogen-like 2
FOLH1 folate hydrolase (prostate-specific membrane antigen) 1
FOXP3 forkhead box P3
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
GCA grancalcin, EF-hand calcium binding protein
GEM GTP binding protein overexpressed in skeletal muscle
GGT1 gamma-glutamyltransferase 1
GGTLC1 gamma-glutamyltransferase light chain 1
GGTLC3 gamma-glutamyltransferase light chain 3
GHRL ghrelin/obestatin prepropeptide
GJA5 gap junction protein, alpha 5, 40kDa
GOLM1 golgi membrane protein 1
GOLPH3 golgi phosphoprotein 3 (coat-protein)
GPBAR1 G protein-coupled bile acid receptor 1
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GPT2 glutamic pyruvate transaminase (alanine aminotransferase) 2
GSN gelsolin
GSTK1 glutathione S-transferase kappa 1
GSTM3 glutathione S-transferase mu 3 (brain)
GSTP1 glutathione S-transferase pi 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
HAVCR2 hepatitis A virus cellular receptor 2
HCN2 hyperpolarization activated cyclic nucleotide gated potassium channel 2
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HDAC4 histone deacetylase 4
HDAC9 histone deacetylase 9
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-DMA major histocompatibility complex, class II, DM alpha
HLA-DPA1 major histocompatibility complex, class II, DP alpha 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQA1 major histocompatibility complex, class II, DQ alpha 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB5 major histocompatibility complex, class II, DR beta 5
HLA-E major histocompatibility complex, class I, E
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HNRNPH1 heterogeneous nuclear ribonucleoprotein H1 (H)
HOXA10 homeobox A10
HOXD13 homeobox D13
HP haptoglobin
HSF4 heat shock transcription factor 4
HSPA1L heat shock 70kDa protein 1-like
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled
ICOS inducible T-cell co-stimulator
IFI16 interferon, gamma-inducible protein 16
IFIH1 interferon induced with helicase C domain 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNA2 interferon, alpha 2
IFNAR1 interferon (alpha, beta and omega) receptor 1
IFNAR2 interferon (alpha, beta and omega) receptor 2
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IFNGR2 interferon gamma receptor 2 (interferon gamma transducer 1)
IFNL3 interferon, lambda 3
IFNL4 interferon, lambda 4 (gene/pseudogene)
IGF1R insulin-like growth factor 1 receptor
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP7 insulin-like growth factor binding protein 7
IL10 interleukin 10
IL15 interleukin 15
IL17A interleukin 17A
IL17F interleukin 17F
IL18 interleukin 18
IL18R1 interleukin 18 receptor 1
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL2 interleukin 2
IL21 interleukin 21
IL21R interleukin 21 receptor
IL22 interleukin 22
IL23A interleukin 23, alpha subunit p19
IL23R interleukin 23 receptor
IL2RA interleukin 2 receptor, alpha
IL32 interleukin 32
IL4 interleukin 4
IL6 interleukin 6
IL7R interleukin 7 receptor
IRF5 interferon regulatory factor 5
IRF7 interferon regulatory factor 7
ISG20 interferon stimulated exonuclease gene 20kDa
ITGAE integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)
JMJD6 jumonji domain containing 6
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KCTD9 potassium channel tetramerization domain containing 9
KIF1B kinesin family member 1B
KIR2DL1 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1
KIR2DL3 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3
KIR2DS1 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1
KIR3DL1 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1
KIR3DL2 killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 2
KLRC1 killer cell lectin-like receptor subfamily C, member 1
KLRC2 killer cell lectin-like receptor subfamily C, member 2
KLRC4-KLRK1 KLRC4-KLRK1 readthrough
KLRG1 killer cell lectin-like receptor subfamily G, member 1
KLRK1 killer cell lectin-like receptor subfamily K, member 1
KRT18 keratin 18, type I
KRT5 keratin 5, type II
LCN2 lipocalin 2
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS3BP lectin, galactoside-binding, soluble, 3 binding protein
LGALS9 lectin, galactoside-binding, soluble, 9
LOC102724197 inactive gamma-glutamyltranspeptidase 2-like
MAL mal, T-cell differentiation protein
MAP2K7 mitogen-activated protein kinase kinase 7
MAPK9 mitogen-activated protein kinase 9
MAPKAP1 mitogen-activated protein kinase associated protein 1
MAVS mitochondrial antiviral signaling protein
MBD1 methyl-CpG binding domain protein 1
MBD2 methyl-CpG binding domain protein 2
MBD4 methyl-CpG binding domain protein 4
MBL2 mannose-binding lectin (protein C) 2, soluble
MBOAT7 membrane bound O-acyltransferase domain containing 7
MMP9 matrix metallopeptidase 9
MOV10 Mov10 RISC complex RNA helicase
MPI mannose phosphate isomerase
MT-ATP8 ATP synthase F0 subunit 8
MT1G metallothionein 1G
MT1M metallothionein 1M
NAMPT nicotinamide phosphoribosyltransferase
NCAM1 neural cell adhesion molecule 1
NCR1 natural cytotoxicity triggering receptor 1
NDRG2 NDRG family member 2
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NUCB1 nucleobindin 1
OPN1SW opsin 1 (cone pigments), short-wave-sensitive
OPRL1 opiate receptor-like 1
PAEP progestagen-associated endometrial protein
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDCD1 programmed cell death 1
PDIA3 protein disulfide isomerase family A, member 3
PIN1 peptidylprolyl cis/trans isomerase, NIMA-interacting 1
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLAGL1 pleiomorphic adenoma gene-like 1
PMM2 phosphomannomutase 2
PNOC prepronociceptin
PNPLA3 patatin-like phospholipase domain containing 3
PON1 paraoxonase 1
POU5F1 POU class 5 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPIP5K1 diphosphoinositol pentakisphosphate kinase 1
PPP1R2P9 protein phosphatase 1, regulatory (inhibitor) subunit 2 pseudogene 9
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PTCRA pre T-cell antigen receptor alpha
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAG1 recombination activating gene 1
RAPGEF5 Rap guanine nucleotide exchange factor (GEF) 5
RARRES3 retinoic acid receptor responder (tazarotene induced) 3
RASD2 RASD family, member 2
RBM45 RNA binding motif protein 45
RETN resistin
RGN regucalcin
RIPK3 receptor-interacting serine-threonine kinase 3
RO60 Ro60, Y RNA binding protein
ROBO3 roundabout, axon guidance receptor, homolog 3 (Drosophila)
RORA RAR-related orphan receptor A
RPTOR regulatory associated protein of MTOR, complex 1
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
S100A12 S100 calcium binding protein A12
S100A4 S100 calcium binding protein A4
S100A9 S100 calcium binding protein A9
SFTA2 surfactant associated 2
SH2B1 SH2B adaptor protein 1
SIGLEC1 sialic acid binding Ig-like lectin 1, sialoadhesin
SIGLEC9 sialic acid binding Ig-like lectin 9
SIRT1 sirtuin 1
SLC10A1 solute carrier family 10 (sodium/bile acid cotransporter), member 1
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMOC1 SPARC related modular calcium binding 1
SOCS1 suppressor of cytokine signaling 1
SOD1 superoxide dismutase 1, soluble
SOX11 SRY (sex determining region Y)-box 11
SOX9 SRY (sex determining region Y)-box 9
SPP1 secreted phosphoprotein 1
SRY sex determining region Y
SSB Sjogren syndrome antigen B (autoantigen La)
STAT1 signal transducer and activator of transcription 1, 91kDa
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STING1 stimulator of interferon response cGAMP interactor 1
STS steroid sulfatase (microsomal), isozyme S
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TBC1D9 TBC1 domain family, member 9 (with GRAM domain)
TBX18 T-box 18
TBX21 T-box 21
TCF19 transcription factor 19
TDP2 tyrosyl-DNA phosphodiesterase 2
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
TICAM1 toll-like receptor adaptor molecule 1
TIPE2 TNF alpha induced protein 8 like 2
TLR1 toll-like receptor 1
TLR2 toll-like receptor 2
TLR3 toll-like receptor 3
TLR4 toll-like receptor 4
TLR5 toll-like receptor 5
TLR7 toll-like receptor 7
TLR8 toll-like receptor 8
TLR9 toll-like receptor 9
TMEFF2 transmembrane protein with EGF-like and two follistatin-like domains 2
TMEM11 transmembrane protein 11
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFRSF6B tumor necrosis factor receptor superfamily, member 6b, decoy
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF13B tumor necrosis factor (ligand) superfamily, member 13b
TNPO1 transportin 1
TRIM21 tripartite motif containing 21
TRIM69 tripartite motif containing 69
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTN titin
TXN thioredoxin
UBE2L3 ubiquitin-conjugating enzyme E2L 3
UBE2Q1 ubiquitin-conjugating enzyme E2Q family member 1
UQCRB ubiquinol-cytochrome c reductase binding protein
USP18 ubiquitin specific peptidase 18
VARS2 valyl-tRNA synthetase 2, mitochondrial
VCX variable charge, X-linked
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIM vimentin
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VWF von Willebrand factor
XPO4 exportin 4
XRCC4 X-ray repair complementing defective repair in Chinese hamster cells 4
ZACN zinc activated ligand-gated ion channel
ZCCHC14 zinc finger, CCHC domain containing 14