Van Der Woude Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (Human Disease Ontology, DOID_0060239)
External Link https://www.disgenet.org/browser/0/1/0/C1847604
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Genes

102 genes associated with the disease Van Der Woude Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
AGO2 argonaute RISC catalytic component 2
AHR aryl hydrocarbon receptor
AIF1 allograft inflammatory factor 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AP2A1 adaptor-related protein complex 2, alpha 1 subunit
ARG1 arginase 1
BCL2 B-cell CLL/lymphoma 2
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CCK cholecystokinin
CCL21 chemokine (C-C motif) ligand 21
CCL5 chemokine (C-C motif) ligand 5
CCND1 cyclin D1
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CFAP57 cilia and flagella associated protein 57
CNR2 cannabinoid receptor 2 (macrophage)
CNTN2 contactin 2 (axonal)
COX2
CPO carboxypeptidase O
CXCL2 chemokine (C-X-C motif) ligand 2
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR1 chemokine (C-X-C motif) receptor 1
CYBB cytochrome b-245, beta polypeptide
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
DCDC2 doublecortin domain containing 2
DNTT DNA nucleotidylexotransferase
DRD2 dopamine receptor D2
EPHB2 EPH receptor B2
ERN1 endoplasmic reticulum to nucleus signaling 1
ETV6 ets variant 6
F3 coagulation factor III (thromboplastin, tissue factor)
FOXA1 forkhead box A1
GLI2 GLI family zinc finger 2
GORASP1 golgi reassembly stacking protein 1, 65kDa
GPT glutamic-pyruvate transaminase (alanine aminotransferase)
GRHL3 grainyhead-like 3 (Drosophila)
HMGB1 high mobility group box 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
IDO1 indoleamine 2,3-dioxygenase 1
IFNA1 interferon, alpha 1
IFNA13 interferon, alpha 13
IFNG interferon, gamma
IL10 interleukin 10
IL17A interleukin 17A
IL1B interleukin 1, beta
IL6 interleukin 6
IL7R interleukin 7 receptor
IRF2 interferon regulatory factor 2
IRF3 interferon regulatory factor 3
IRF6 interferon regulatory factor 6
KISS1 KiSS-1 metastasis-suppressor
LAMB2 laminin, beta 2 (laminin S)
MAP3K3 mitogen-activated protein kinase kinase kinase 3
MAPK1 mitogen-activated protein kinase 1
MST1 macrophage stimulating 1
NCF1 neutrophil cytosolic factor 1
NECTIN1 nectin cell adhesion molecule 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NHLH1 nescient helix loop helix 1
NLRP3 NLR family, pyrin domain containing 3
NME1 NME/NM23 nucleoside diphosphate kinase 1
NME2 NME/NM23 nucleoside diphosphate kinase 2
NOX4 NADPH oxidase 4
NRF1 nuclear respiratory factor 1
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKM pyruvate kinase, muscle
PPARG peroxisome proliferator-activated receptor gamma
PRKAA1 protein kinase, AMP-activated, alpha 1 catalytic subunit
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
PRKAB1 protein kinase, AMP-activated, beta 1 non-catalytic subunit
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVR poliovirus receptor
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
REN renin
RIPK4 receptor-interacting serine-threonine kinase 4
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
RORA RAR-related orphan receptor A
SIRT1 sirtuin 1
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
SYT1 synaptotagmin I
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TFDP1 transcription factor Dp-1
TGFB2 transforming growth factor, beta 2
TH tyrosine hydroxylase
TICAM1 toll-like receptor adaptor molecule 1
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR4 toll-like receptor 4
TNF tumor necrosis factor
TNFSF13 tumor necrosis factor (ligand) superfamily, member 13
TP53 tumor protein p53
TRIM69 tripartite motif containing 69
TRPC3 transient receptor potential cation channel, subfamily C, member 3
UMOD uromodulin
WDR26 WD repeat domain 26
WNK1 WNK lysine deficient protein kinase 1
WNK2 WNK lysine deficient protein kinase 2