Source: BEFREE

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.700 None 1.000 15 1 2002 2019
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.700 strong 1.000 12 0 2002 2016
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.460 None 1.000 6 0 2003 2016
Entrez Id: 5424
Gene Symbol: POLD1
POLD1
DNA polymerase delta 1, catalytic subunit 0.507 0.769 2.4E-06
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.440 None 1.000 4 0 2013 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.400 None 1.000 20 5 2002 2019
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1
caveolae associated protein 1 0.559 0.654 5.0E-03
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.340 None 1.000 4 1 2008 2020
Entrez Id: 23175
Gene Symbol: LPIN1
LPIN1
lipin 1 0.601 0.692 6.5E-13
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.300 None 0.909 10 0 2001 2019
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.200 None 0.983 57 10 2000 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.170 None 1.000 7 0 2010 2020
Entrez Id: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.160 None 0.833 6 0 1988 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.140 None 1.000 4 0 2008 2015
Entrez Id: 5696
Gene Symbol: PSMB8
PSMB8
proteasome 20S subunit beta 8 0.533 0.808 2.2E-02
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.140 None 1.000 4 0 2010 2012
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
perilipin 1 0.590 0.654 3.1E-11
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.140 None 0.750 4 0 2011 2019
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1
phosphoinositide-3-kinase regulatory subunit 1 0.477 0.885 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.140 None 1.000 4 0 2013 2019
Entrez Id: 208
Gene Symbol: AKT2
AKT2
AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.130 None 1.000 3 0 2006 2007
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.130 None 1.000 3 0 2001 2003
Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
interferon induced with helicase C domain 1 0.471 0.808 7.0E-44
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2016 2016
Entrez Id: 3480
Gene Symbol: IGF1R
IGF1R
insulin like growth factor 1 receptor 0.399 0.885 0.97
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 1993 1993
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
cell death inducing DFFA like effector c 0.666 0.462 9.0E-03
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2011 2011
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 0.292 0.923 1.00
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2013 2013
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
platelet derived growth factor receptor beta 0.416 0.846 0.90
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.100 None 0.974 36 0 1999 2019
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.100 None 1.000 15 0 2003 2019
Entrez Id: 7124
Gene Symbol: TNF
TNF
tumor necrosis factor 0.231 0.962 0.80
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy
disease 0.090 None 1.000 8 0 2002 2015