lipodystrophy Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009125
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Genes

60 genes associated with the lipodystrophy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
BAG3 BCL2-associated athanogene 3
BANF1 barrier to autointegration factor 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CAV1 caveolin 1, caveolae protein, 22kDa
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)
DES desmin
DMD dystrophin
DOLK dolichol kinase
DSG2 desmoglein 2
FBN1 fibrillin 1
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
INSR insulin receptor
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LMNA lamin A/C
LMNB2 lamin B2
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYPN myopalladin
NEXN nexilin (F actin binding protein)
PLIN1 perilipin 1
PLN phospholamban
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
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
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
TAZ tafazzin
TCAP titin-cap
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TTN titin
TXNRD2 thioredoxin reductase 2
VCL vinculin
WRN Werner syndrome, RecQ helicase-like
ZMPSTE24 zinc metallopeptidase STE24