Aural Atresia, Congenital Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1842937
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Genes

107 genes associated with the disease Aural Atresia, Congenital in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
A2M alpha-2-macroglobulin
ABHD16A abhydrolase domain containing 16A
ACE angiotensin I converting enzyme
ACTB actin, beta
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AIF1 allograft inflammatory factor 1
ALB albumin
ALOX5 arachidonate 5-lipoxygenase
AOC2 amine oxidase, copper containing 2 (retina-specific)
AOC3 amine oxidase, copper containing 3
APCS amyloid P component, serum
APOA1 apolipoprotein A-I
APOE apolipoprotein E
APP amyloid beta (A4) precursor protein
BACE1 beta-site APP-cleaving enzyme 1
BAG6 BCL2-associated athanogene 6
BCHE butyrylcholinesterase
BHLHE40 basic helix-loop-helix family, member e40
C2ORF40 chromosome 2 open reading frame 40
CD68 CD68 molecule
CGA glycoprotein hormones, alpha polypeptide
CLDN5 claudin 5
CLU clusterin
CMAS cytidine monophosphate N-acetylneuraminic acid synthetase
COL4A2 collagen, type IV, alpha 2
COL6A2 collagen, type VI, alpha 2
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CST3 cystatin C
DDR1 discoidin domain receptor tyrosine kinase 1
DLG4 discs, large homolog 4 (Drosophila)
DYM dymeclin
F13A1 coagulation factor XIII, A1 polypeptide
F2 coagulation factor II (thrombin)
FBN2 fibrillin 2
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXI3 forkhead box I3
GH1 growth hormone 1
GRIN3A glutamate receptor, ionotropic, N-methyl-D-aspartate 3A
GSN gelsolin
HDAC9 histone deacetylase 9
HLA-B major histocompatibility complex, class I, B
HLA-E major histocompatibility complex, class I, E
HSPB8 heat shock 22kDa protein 8
IDE insulin-degrading enzyme
IL10 interleukin 10
IL1B interleukin 1, beta
IL33 interleukin 33
IL6 interleukin 6
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGAX integrin, alpha X (complement component 3 receptor 4 subunit)
ITM2B integral membrane protein 2B
ITPR3 inositol 1,4,5-trisphosphate receptor, type 3
KCNJ13 potassium channel, inwardly rectifying subfamily J, member 13
KNG1 kininogen 1
LAMC2 laminin, gamma 2
LRP1 low density lipoprotein receptor-related protein 1
LRP5 low density lipoprotein receptor-related protein 5
MAPT microtubule-associated protein tau
MBP myelin basic protein
MME membrane metallo-endopeptidase
MMP9 matrix metallopeptidase 9
MT-CYB cytochrome b
NCOA1 nuclear receptor coactivator 1
NEBL nebulette
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OLR1 oxidized low density lipoprotein (lectin-like) receptor 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE3A phosphodiesterase 3A, cGMP-inhibited
PEAR1 platelet endothelial aggregation receptor 1
PECAM1 platelet/endothelial cell adhesion molecule 1
PLCB4 phospholipase C, beta 4
PLG plasminogen
PON1 paraoxonase 1
PPARA peroxisome proliferator-activated receptor alpha
PRNP prion protein
PRRC2A proline-rich coiled-coil 2A
PSEN1 presenilin 1
PTK2B protein tyrosine kinase 2 beta
PTPRC protein tyrosine phosphatase, receptor type, C
PVR poliovirus receptor
ROM1 retinal outer segment membrane protein 1
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC30A3 solute carrier family 30 (zinc transporter), member 3
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPP1 secreted phosphoprotein 1
SRPX sushi-repeat containing protein, X-linked
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TGFB1 transforming growth factor, beta 1
TIFAB TRAF-interacting protein with forkhead-associated domain, family member B
TIMP3 TIMP metallopeptidase inhibitor 3
TNF tumor necrosis factor
TOMM40 translocase of outer mitochondrial membrane 40 homolog (yeast)
TRAPPC12 trafficking protein particle complex 12
TSHZ1 teashirt zinc finger homeobox 1
TTR transthyretin
TUBA3C tubulin, alpha 3c
TWIST1 twist family bHLH transcription factor 1
UTS2 urotensin 2
XPNPEP3 X-prolyl aminopeptidase 3, mitochondrial