Simpson-Golabi-Behmel Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An X-linked disease characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities. (Human Disease Ontology, DOID_0060248)
External Link https://www.disgenet.org/browser/0/1/0/C0796154
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Genes

42 genes associated with the disease Simpson-Golabi-Behmel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ADIPOQ adiponectin, C1Q and collagen domain containing
AFP alpha-fetoprotein
APLN apelin
CAND2 cullin-associated and neddylation-dissociated 2 (putative)
CCL2 chemokine (C-C motif) ligand 2
CD44 CD44 molecule (Indian blood group)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
COLGALT1 collagen beta(1-O)galactosyltransferase 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
FGF1 fibroblast growth factor 1 (acidic)
FTO fat mass and obesity associated
GHR growth hormone receptor
GPC1 glypican 1
GPC3 glypican 3
GPC4 glypican 4
GPC5 glypican 5
GPC6 glypican 6
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPA14 heat shock 70kDa protein 14
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IFI16 interferon, gamma-inducible protein 16
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
LEP leptin
LMLN leishmanolysin-like (metallopeptidase M8 family)
MAPK3 mitogen-activated protein kinase 3
MFAP5 microfibrillar associated protein 5
NAMPT nicotinamide phosphoribosyltransferase
OFD1 oral-facial-digital syndrome 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
POTEF POTE ankyrin domain family, member F
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
RETSAT retinol saturase (all-trans-retinol 13,14-reductase)
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4
TIMP3 TIMP metallopeptidase inhibitor 3
TNF tumor necrosis factor
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)