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/C0494360
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Genes

225 genes associated with the disease Lipodystrophy 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
ADIPOR1 adiponectin receptor 1
ADIPOR2 adiponectin receptor 2
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
AGRP agouti related neuropeptide
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALB albumin
ANGPTL3 angiopoietin-like 3
ANGPTL4 angiopoietin-like 4
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
APOC3 apolipoprotein C-III
APOE apolipoprotein E
ARL15 ADP-ribosylation factor-like 15
ARTN artemin
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast)
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CAVIN1 caveolae associated protein 1
CCL2 chemokine (C-C motif) ligand 2
CCL3 chemokine (C-C motif) ligand 3
CD38 CD38 molecule
CD59 CD59 molecule, complement regulatory protein
CD68 CD68 molecule
CDH23 cadherin-related 23
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CIDEC cell death-inducing DFFA-like effector c
CLMP CXADR-like membrane protein
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNOT3 CCR4-NOT transcription complex, subunit 3
COL3A1 collagen, type III, alpha 1
CRABP2 cellular retinoic acid binding protein 2
CRP C-reactive protein, pentraxin-related
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL8 chemokine (C-X-C motif) ligand 8
DAPK3 death-associated protein kinase 3
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DES desmin
DIO2 deiodinase, iodothyronine, type II
DLGAP1 discs, large (Drosophila) homolog-associated protein 1
DMD dystrophin
DOLK dolichol kinase
DSG2 desmoglein 2
EBF1 early B-cell factor 1
EGF epidermal growth factor
EMD emerin
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
FABP4 fatty acid binding protein 4, adipocyte
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FERMT2 fermitin family member 2
FETUB fetuin B
FGF19 fibroblast growth factor 19
FGF21 fibroblast growth factor 21
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FITM2 fat storage-inducing transmembrane protein 2
FKTN fukutin
FLNA filamin A, alpha
FOS FBJ murine osteosarcoma viral oncogene homolog
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FUCA1 fucosidase, alpha-L- 1, tissue
GADD45A growth arrest and DNA-damage-inducible, alpha
GATAD1 GATA zinc finger domain containing 1
GH1 growth hormone 1
GMNN geminin, DNA replication inhibitor
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial
GPC3 glypican 3
GRN granulin
HDAC3 histone deacetylase 3
HFE hemochromatosis
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
IFIH1 interferon induced with helicase C domain 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IL10 interleukin 10
IL18 interleukin 18
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL4 interleukin 4
IL6 interleukin 6
IL7R interleukin 7 receptor
INS insulin
INSR insulin receptor
KCNJ6 potassium channel, inwardly rectifying subfamily J, member 6
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LHB luteinizing hormone beta polypeptide
LIPE lipase, hormone-sensitive
LMF1 lipase maturation factor 1
LMNA lamin A/C
LMNB2 lamin B2
LONP1 lon peptidase 1, mitochondrial
LPIN1 lipin 1
LPIN2 lipin 2
LPL lipoprotein lipase
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
METTL9 methyltransferase like 9
MFN2 mitofusin 2
MMRN1 multimerin 1
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NDUFA13 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13
NEBL nebulette
NEDD8 neural precursor cell expressed, developmentally down-regulated 8
NEXN nexilin (F actin binding protein)
NPY neuropeptide Y
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR3C2 nuclear receptor subfamily 3, group C, member 2
NUCB2 nucleobindin 2
OTULIN OTU deubiquitinase with linear linkage specificity
PAEP progestagen-associated endometrial protein
PARP2 poly (ADP-ribose) polymerase 2
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCYT1A phosphate cytidylyltransferase 1, choline, alpha
PDAP1 PDGFA associated protein 1
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLIN1 perilipin 1
PLN phospholamban
PML promyelocytic leukemia
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPCS phosphopantothenoylcysteine synthetase
PRDM16 PR domain containing 16
PREP prolyl endopeptidase
PSEN1 presenilin 1
PSEN2 presenilin 2
PSMB4 proteasome (prosome, macropain) subunit, beta type, 4
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN6 protein tyrosine phosphatase, non-receptor type 6
PTPRC protein tyrosine phosphatase, receptor type, C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RARRES2 retinoic acid receptor responder (tazarotene induced) 2
RBM20 RNA binding motif protein 20
RBM28 RNA binding motif protein 28
RBP2 retinol binding protein 2, cellular
REEP1 receptor accessory protein 1
REG3A regenerating islet-derived 3 alpha
REN renin
RETN resistin
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RP9 retinitis pigmentosa 9 (autosomal dominant)
SAMHD1 SAM domain and HD domain 1
SAT1 spermidine/spermine N1-acetyltransferase 1
SCD stearoyl-CoA desaturase (delta-9-desaturase)
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
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
SLC28A1 solute carrier family 28 (concentrative nucleoside transporter), member 1
SLC28A2 solute carrier family 28 (concentrative nucleoside transporter), member 2
SLC28A3 solute carrier family 28 (concentrative nucleoside transporter), member 3
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1
SLC29A2 solute carrier family 29 (equilibrative nucleoside transporter), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMUG1 single-strand-selective monofunctional uracil-DNA glycosylase 1
SPRTN SprT-like N-terminal domain
SREBF1 sterol regulatory element binding transcription factor 1
STAB2 stabilin 2
SYNE1 spectrin repeat containing, nuclear envelope 1
SYNE2 spectrin repeat containing, nuclear envelope 2
TAF1A TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa
TAZ tafazzin
TCAP titin-cap
TCP1 t-complex 1
TMEM43 transmembrane protein 43
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
TYMS thymidylate synthetase
USP8 ubiquitin specific peptidase 8
VCL vinculin
WRN Werner syndrome, RecQ helicase-like
XYLT2 xylosyltransferase II
ZGPAT zinc finger, CCCH-type with G patch domain
ZMPSTE24 zinc metallopeptidase STE24