Shprintzen-Goldberg 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/C1321551
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
APOL1 apolipoprotein L, 1
ARSA arylsulfatase A
BMP4 bone morphogenetic protein 4
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
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
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
DGCR2 DiGeorge syndrome critical region gene 2
DGCR6 DiGeorge syndrome critical region gene 6
DGCR8 DGCR8 microprocessor complex subunit
EDN1 endothelin 1
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FOXN1 forkhead box N1
GATA3 GATA binding protein 3
GNB1L guanine nucleotide binding protein (G protein), beta polypeptide 1-like
HIRA histone cell cycle regulator
IL2 interleukin 2
KIFBP kinesin family binding protein
LAMC1 laminin, gamma 1 (formerly LAMB2)
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MMP9 matrix metallopeptidase 9
NAAA N-acylethanolamine acid amidase
NKX2-6 NK2 homeobox 6
PRDM9 PR domain containing 9
PRODH proline dehydrogenase (oxidase) 1
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RANBP1 RAN binding protein 1
RPS6KB2 ribosomal protein S6 kinase, 70kDa, polypeptide 2
SEPT5 septin 5
SETBP1 SET binding protein 1
SKI SKI proto-oncogene
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC7A4 solute carrier family 7, member 4
SMAD2 SMAD family member 2
SMAD4 SMAD family member 4
SULT1E1 sulfotransferase family 1E, estrogen-preferring, member 1
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UFD1 ubiquitin recognition factor in ER associated degradation 1
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZNF74 zinc finger protein 74