Ablepharon-Macrostomia Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1860224
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Genes

36 genes associated with the disease Ablepharon-Macrostomia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ADRB2 adrenoceptor beta 2, surface
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
BDKRB1 bradykinin receptor B1
BDKRB2 bradykinin receptor B2
CCL8 chemokine (C-C motif) ligand 8
EGLN1 egl-9 family hypoxia-inducible factor 1
EPAS1 endothelial PAS domain protein 1
EPO erythropoietin
ERCC2 excision repair cross-complementation group 2
FAM149A family with sequence similarity 149, member A
FOXO4 forkhead box O4
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GTF2H5 general transcription factor IIH, polypeptide 5
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIF1AN hypoxia inducible factor 1, alpha subunit inhibitor
HP haptoglobin
HSPA4 heat shock 70kDa protein 4
IL10 interleukin 10
IL6 interleukin 6
KNG1 kininogen 1
MBP myelin basic protein
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NFE2L2 nuclear factor, erythroid 2-like 2
NOS3 nitric oxide synthase 3 (endothelial cell)
PPP1R8 protein phosphatase 1, regulatory subunit 8
RACK1 receptor for activated C kinase 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SETD2 SET domain containing 2
SPP1 secreted phosphoprotein 1
TNF tumor necrosis factor
TRIM23 tripartite motif containing 23
TWIST2 twist family bHLH transcription factor 2
VEGFA vascular endothelial growth factor A