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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.600 limited 0.978 89 12 2000 2020
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.600 None 0.938 16 3 2002 2019
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
perilipin 1 0.590 0.654 3.1E-11
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.370 None 0.714 7 0 2011 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.310 None 1.000 2 0 2009 2009
Entrez Id: 63924
Gene Symbol: CIDEC
CIDEC
cell death inducing DFFA like effector c 0.666 0.462 9.0E-03
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.310 None 1.000 1 0 2011 2011
Entrez Id: 3991
Gene Symbol: LIPE
LIPE
lipase E, hormone sensitive type 0.599 0.500 9.7E-12
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.310 None 1.000 1 0 2014 2014
Entrez Id: 150
Gene Symbol: ADRA2A
ADRA2A
adrenoceptor alpha 2A 0.578 0.615 8.2E-04
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.300 limited 1.000 1 0 2016 2016
Entrez Id: 208
Gene Symbol: AKT2
AKT2
AKT serine/threonine kinase 2 0.474 0.769 0.64
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.300 None 1.000 1 0 2009 2009
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.210 None 1.000 1 0 2007 2007
Entrez Id: 6720
Gene Symbol: SREBF1
SREBF1
sterol regulatory element binding transcription factor 1 0.518 0.808 1.5E-02
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.030 None 1.000 3 1 2002 2015
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.020 None 1.000 2 0 2000 2005
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.020 None 1.000 2 0 2007 2016
Entrez Id: 7486
Gene Symbol: WRN
WRN
WRN RecQ like helicase 0.524 0.808 2.6E-34
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 7879
Gene Symbol: RAB7A
RAB7A
RAB7A, member RAS oncogene family 0.597 0.692 0.97
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2002 2002
Entrez Id: 84823
Gene Symbol: LMNB2
LMNB2
lamin B2 0.636 0.615 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2005 2005
Entrez Id: 5915
Gene Symbol: RARB
RARB
retinoic acid receptor beta 0.478 0.846 1.00
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7341
Gene Symbol: SUMO1
SUMO1
small ubiquitin like modifier 1 0.533 0.731 0.86
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 4023
Gene Symbol: LPL
LPL
lipoprotein lipase 0.474 0.808 1.3E-09
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2009 2009
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1
caveolae associated protein 1 0.559 0.654 5.0E-03
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2011 2011
Entrez Id: 2999
Gene Symbol: GZMH
GZMH
granzyme H 0.780 0.346 1.3E-07
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
granzyme B 0.453 0.808 3.7E-14
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0271694
Disease: Familial partial lipodystrophy
Familial partial lipodystrophy
disease 0.010 None 1.000 1 0 2013 2013