Ear, Patella, Short Stature 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/C1868684
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Genes

78 genes associated with the disease Ear, Patella, Short Stature Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACHE acetylcholinesterase (Yt blood group)
ACTB actin, beta
ACTG1 actin gamma 1
APOE apolipoprotein E
ASPH aspartate beta-hydroxylase
ATXN2 ataxin 2
ATXN3 ataxin 3
BMP5 bone morphogenetic protein 5
BRCA2 breast cancer 2, early onset
BSG basigin (Ok blood group)
CCN2 cellular communication network factor 2
CD2 CD2 molecule
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CHEK2 checkpoint kinase 2
CLEC7A C-type lectin domain family 7, member A
COL1A1 collagen, type I, alpha 1
COMT catechol-O-methyltransferase
CRP C-reactive protein, pentraxin-related
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP4F3 cytochrome P450, family 4, subfamily F, polypeptide 3
DISC1 disrupted in schizophrenia 1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
EPHB2 EPH receptor B2
FANCD2 Fanconi anemia, complementation group D2
FASN fatty acid synthase
FOXM1 forkhead box M1
GMNN geminin, DNA replication inhibitor
GNAS GNAS complex locus
GORASP1 golgi reassembly stacking protein 1, 65kDa
GRIK3 glutamate receptor, ionotropic, kainate 3
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
IL10 interleukin 10
IL6 interleukin 6
INSR insulin receptor
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
LEP leptin
LY6E lymphocyte antigen 6 complex, locus E
LYZ lysozyme
MAOB monoamine oxidase B
MAPK1 mitogen-activated protein kinase 1
MAPK3 mitogen-activated protein kinase 3
MCM2 minichromosome maintenance complex component 2
MCM5 minichromosome maintenance complex component 5
MTOR mechanistic target of rapamycin (serine/threonine kinase)
MYH9 myosin, heavy chain 9, non-muscle
NOS2 nitric oxide synthase 2, inducible
ORC1 origin recognition complex, subunit 1
ORC3 origin recognition complex, subunit 3
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAEP progestagen-associated endometrial protein
PDPN podoplanin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLCB1 phospholipase C, beta 1 (phosphoinositide-specific)
POSTN periostin, osteoblast specific factor
PRKACG protein kinase, cAMP-dependent, catalytic, gamma
PRKCA protein kinase C, alpha
PSEN1 presenilin 1
PTH parathyroid hormone
RBP4 retinol binding protein 4, plasma
RELA v-rel avian reticuloendotheliosis viral oncogene homolog A
RGS2 regulator of G-protein signaling 2
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIRT1 sirtuin 1
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SOD1 superoxide dismutase 1, soluble
SYT1 synaptotagmin I
TGFB1 transforming growth factor, beta 1
TLR4 toll-like receptor 4
TNF tumor necrosis factor
VEGFA vascular endothelial growth factor A
WNK1 WNK lysine deficient protein kinase 1