Familial Generalized Lipodystrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0221032
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Genes

48 genes associated with the disease Familial Generalized Lipodystrophy in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACAT1 acetyl-CoA acetyltransferase 1
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB3 adrenoceptor beta 3
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT1 1-acylglycerol-3-phosphate O-acyltransferase 1
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
ANGPTL3 angiopoietin-like 3
APRT adenine phosphoribosyltransferase
BEST1 bestrophin 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CAVIN1 caveolae associated protein 1
DMD dystrophin
EMD emerin
ETFA electron-transfer-flavoprotein, alpha polypeptide
FBN1 fibrillin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
GARS glycyl-tRNA synthetase
GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
GCG glucagon
GH1 growth hormone 1
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)
GZMH granzyme H (cathepsin G-like 2, protein h-CCPX)
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HNF4A hepatocyte nuclear factor 4, alpha
INSR insulin receptor
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
LEP leptin
LMNA lamin A/C
LPIN1 lipin 1
LPIN2 lipin 2
MAT1A methionine adenosyltransferase I, alpha
MFAP1 microfibrillar-associated protein 1
MUC1 mucin 1, cell surface associated
NOX1 NADPH oxidase 1
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDE3B phosphodiesterase 3B, cGMP-inhibited
PLIN1 perilipin 1
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPARG peroxisome proliferator-activated receptor gamma
SETD2 SET domain containing 2
SETX senataxin
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SNAP23 synaptosomal-associated protein, 23kDa
SOST sclerostin
ZMPSTE24 zinc metallopeptidase STE24