familial partial lipodystrophy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (Human Disease Ontology, DOID_0050440)
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Genes

50 genes co-occuring with the disease familial partial lipodystrophy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
LMNA lamin A/C 3.05616
EMD emerin 1.9178
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin) 1.63769
CIDEC cell death-inducing DFFA-like effector c 1.59296
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 1.52996
PPARG peroxisome proliferator-activated receptor gamma 1.47945
ZMPSTE24 zinc metallopeptidase STE24 1.39914
LMNB2 lamin B2 1.22128
LEP leptin 1.16478
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8 1.04924
PLIN1 perilipin 1 1.04882
AKT2 v-akt murine thymoma viral oncogene homolog 2 0.9898
PTRF polymerase I and transcript release factor 0.897872
SREBF1 sterol regulatory element binding transcription factor 1 0.872462
BANF1 barrier to autointegration factor 1 0.867959
FNTA farnesyltransferase, CAAX box, alpha 0.864684
LMNB1 lamin B1 0.86018
LBR lamin B receptor 0.823718
CHURC1 churchill domain containing 1 0.788442
YIPF2 Yip1 domain family, member 2 0.785574
HRAS Harvey rat sarcoma viral oncogene homolog 0.765127
CAV1 caveolin 1, caveolae protein, 22kDa 0.751271
HGS hepatocyte growth factor-regulated tyrosine kinase substrate 0.696707
RXRG retinoid X receptor, gamma 0.671527
INS insulin 0.656441
RECQL5 RecQ protein-like 5 0.654858
SLC2A4 solute carrier family 2 (facilitated glucose transporter), member 4 0.654067
ICMT isoprenylcysteine carboxyl methyltransferase 0.638282
DIO3 deiodinase, iodothyronine, type III 0.606933
EXOSC4 exosome component 4 0.56722
NUP153 nucleoporin 153kDa 0.548583
MKL1 megakaryoblastic leukemia (translocation) 1 0.459751
DIO2 deiodinase, iodothyronine, type II 0.453339
PCSK1 proprotein convertase subtilisin/kexin type 1 0.431519
PPOX protoporphyrinogen oxidase 0.410161
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter) 0.39598
MYOG myogenin (myogenic factor 4) 0.380739
CRABP2 cellular retinoic acid binding protein 2 0.371477
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.257358
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 0.250311
CAPN10 calpain 10 0.243295
INSR insulin receptor 0.228679
ADRB3 adrenoceptor beta 3 0.208914
RETN resistin 0.203275
RANBP1 RAN binding protein 1 0.1936
THRB thyroid hormone receptor, beta 0.190476
MC4R melanocortin 4 receptor 0.188022
CAPN3 calpain 3, (p94) 0.187415
RBP4 retinol binding protein 4, plasma 0.166768
FKTN fukutin 0.160574