Lipoatrophy Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Localized loss of fat tissue. (Human Phenotype Ontology, HP_0100578)
External Link https://www.disgenet.org/browser/0/1/0/C1280433
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADAR adenosine deaminase, RNA-specific
ADIPOQ adiponectin, C1Q and collagen domain containing
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
APOC3 apolipoprotein C-III
APOE apolipoprotein E
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast)
CAV1 caveolin 1, caveolae protein, 22kDa
CAVIN1 caveolae associated protein 1
CD38 CD38 molecule
CD59 CD59 molecule, complement regulatory protein
CLMP CXADR-like membrane protein
COL3A1 collagen, type III, alpha 1
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CXCL8 chemokine (C-X-C motif) ligand 8
DAPK3 death-associated protein kinase 3
DES desmin
DIO2 deiodinase, iodothyronine, type II
DLGAP1 discs, large (Drosophila) homolog-associated protein 1
DMD dystrophin
DOLK dolichol kinase
DSG2 desmoglein 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FERMT2 fermitin family member 2
FHL2 four and a half LIM domains 2
FKTN fukutin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FUCA1 fucosidase, alpha-L- 1, tissue
GATAD1 GATA zinc finger domain containing 1
HFE hemochromatosis
IFIH1 interferon induced with helicase C domain 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL18 interleukin 18
IL1A interleukin 1, alpha
IL4 interleukin 4
IL7R interleukin 7 receptor
INS insulin
INSR insulin receptor
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LEP leptin
LMNA lamin A/C
LMNB2 lamin B2
MFN2 mitofusin 2
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NEBL nebulette
NEXN nexilin (F actin binding protein)
NR3C2 nuclear receptor subfamily 3, group C, member 2
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLIN1 perilipin 1
PLN phospholamban
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPARG peroxisome proliferator-activated receptor gamma
PPCS phosphopantothenoylcysteine synthetase
PRDM16 PR domain containing 16
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
REEP1 receptor accessory protein 1
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
SAMHD1 SAM domain and HD domain 1
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SREBF1 sterol regulatory element binding transcription factor 1
TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
TAZ tafazzin
TCAP titin-cap
TMPO thymopoietin
TNF tumor necrosis factor
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TREX1 three prime repair exonuclease 1
TTN titin
TXNRD2 thioredoxin reductase 2
VCL vinculin
WRN Werner syndrome, RecQ helicase-like
ZGPAT zinc finger, CCCH-type with G patch domain
ZMPSTE24 zinc metallopeptidase STE24