Laryngeal Cleft Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Presence of a gap in the posterior laryngotracheal wall with a continuity between the larynx and the esopahagus. (Human Phenotype Ontology, HP_0008751)
External Link https://www.disgenet.org/browser/0/1/0/C1840311
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Genes

68 genes associated with the disease Laryngeal Cleft in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAM17 ADAM metallopeptidase domain 17
AFP alpha-fetoprotein
BRD2 bromodomain containing 2
CEL carboxyl ester lipase
CRP C-reactive protein, pentraxin-related
CXCL10 chemokine (C-X-C motif) ligand 10
CXCR3 chemokine (C-X-C motif) receptor 3
CYP2C19 cytochrome P450, family 2, subfamily C, polypeptide 19
EDN1 endothelin 1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHB2 EPH receptor B2
ETV3 ets variant 3
FOXP3 forkhead box P3
FZD4 frizzled class receptor 4
GLI3 GLI family zinc finger 3
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR151 G protein-coupled receptor 151
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRK2 G protein-coupled receptor kinase 2
H3F3A H3 histone, family 3A
HGF hepatocyte growth factor (hepapoietin A; scatter factor)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HMBS hydroxymethylbilane synthase
HSPG2 heparan sulfate proteoglycan 2
IFNG interferon, gamma
IL10 interleukin 10
INSR insulin receptor
KRT19 keratin 19, type I
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR3 lysophosphatidic acid receptor 3
MAPK1 mitogen-activated protein kinase 1
MMRN1 multimerin 1
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MUC1 mucin 1, cell surface associated
MUC16 mucin 16, cell surface associated
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
NAT1 N-acetyltransferase 1 (arylamine N-acetyltransferase)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NGF nerve growth factor (beta polypeptide)
NRP1 neuropilin 1
OXER1 oxoeicosanoid (OXE) receptor 1
PARP9 poly (ADP-ribose) polymerase family, member 9
PDCL phosducin-like
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
PTEN phosphatase and tensin homolog
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RGS6 regulator of G-protein signaling 6
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SLC27A5 solute carrier family 27 (fatty acid transporter), member 5
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
STK4 serine/threonine kinase 4
TENM3 teneurin transmembrane protein 3
TGFB1 transforming growth factor, beta 1
THBS1 thrombospondin 1
TLN1 talin 1
TLN2 talin 2
TP53 tumor protein p53
TRPV1 transient receptor potential cation channel, subfamily V, member 1
TYMS thymidylate synthetase
VEGFA vascular endothelial growth factor A