Digeorge Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A T cell deficiency disease that is the result of a large deletion of chromosome 22 which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (Human Disease Ontology, DOID_11198)
External Link https://www.disgenet.org/browser/0/1/0/C0012236
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AFP alpha-fetoprotein
ALB albumin
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
APOL1 apolipoprotein L, 1
ARSA arylsulfatase A
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATXN2 ataxin 2
BCL2 B-cell CLL/lymphoma 2
BCR breakpoint cluster region
BMP4 bone morphogenetic protein 4
C19ORF12 chromosome 19 open reading frame 12
CD27 CD27 molecule
CDC45 cell division cycle 45
CECR2 cat eye syndrome chromosome region, candidate 2
CELF2 CUGBP, Elav-like family member 2
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CIC capicua transcriptional repressor
CLTC clathrin, heavy chain (Hc)
COMT catechol-O-methyltransferase
CPO carboxypeptidase O
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DERL3 derlin 3
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6 DiGeorge syndrome critical region gene 6
DGCR6L DiGeorge syndrome critical region gene 6-like
DGCR8 DGCR8 microprocessor complex subunit
DICER1 dicer 1, ribonuclease type III
DNAJC13 DnaJ (Hsp40) homolog, subfamily C, member 13
DOCK1 dedicator of cytokinesis 1
EDN1 endothelin 1
ELN elastin
ESS2 ess-2 splicing factor homolog
EYA1 EYA transcriptional coactivator and phosphatase 1
FBXO7 F-box protein 7
FGF8 fibroblast growth factor 8 (androgen-induced)
FOXI3 forkhead box I3
FOXN1 forkhead box N1
GATA3 GATA binding protein 3
GBA glucosidase, beta, acid
GCOM1 GRINL1A complex locus 1
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
GP1BB glycoprotein Ib (platelet), beta polypeptide
GSC2 goosecoid homeobox 2
HIRA histone cell cycle regulator
HOXA3 homeobox A3
HTRA2 HtrA serine peptidase 2
IL2 interleukin 2
JMJD1C jumonji domain containing 1C
KAT6A K(lysine) acetyltransferase 6A
LAMC1 laminin, gamma 1 (formerly LAMB2)
LRRK2 leucine-rich repeat kinase 2
LZTR1 leucine-zipper-like transcription regulator 1
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MED15 mediator complex subunit 15
MYZAP myocardial zonula adherens protein
NAAA N-acylethanolamine acid amidase
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NKX2-6 NK2 homeobox 6
NPLOC4 nuclear protein localization 4 homolog (S. cerevisiae)
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLXND1 plexin D1
POLR2M polymerase (RNA) II (DNA directed) polypeptide M
PRDM9 PR domain containing 9
PRODH proline dehydrogenase (oxidase) 1
RAB39B RAB39B, member RAS oncogene family
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RANBP1 RAN binding protein 1
RREB1 ras responsive element binding protein 1
SEC24C SEC24 family member C
SEPT5 septin 5
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC7A4 solute carrier family 7, member 4
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
SYVN1 synovial apoptosis inhibitor 1, synoviolin
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TJP1 tight junction protein 1
TNF tumor necrosis factor
UFD1 ubiquitin recognition factor in ER associated degradation 1
VEGFA vascular endothelial growth factor A
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZNF366 zinc finger protein 366
ZNF74 zinc finger protein 74