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: 10554
Gene Symbol: AGPAT1
AGPAT1
1-acylglycerol-3-phosphate O-acyltransferase 1 0.743 0.423 0.97
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.020 None 1.000 2 0 2003 2017
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.500 None 1.000 20 1 2002 2019
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
acetyl-CoA acetyltransferase 1 0.538 0.692 9.9E-08
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 353
Gene Symbol: APRT
APRT
adenine phosphoribosyltransferase 0.423 0.846 5.5E-13
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.020 None 1.000 2 0 2010 2014
Entrez Id: 155
Gene Symbol: ADRB3
ADRB3
adrenoceptor beta 3 0.533 0.731 2.5E-07
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 178
Gene Symbol: AGL
AGL
amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 0.644 0.615 2.8E-27
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2014 2014
Entrez Id: 27329
Gene Symbol: ANGPTL3
ANGPTL3
angiopoietin like 3 0.584 0.577 1.6E-13
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
apoptosis inducing factor mitochondria associated 1 0.527 0.769 1.00
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2007 2007
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
bestrophin 1 0.465 0.885 1.8E-12
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.700 strong 0.971 31 3 2001 2019
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1
caveolae associated protein 1 0.559 0.654 5.0E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.400 None 1.000 11 0 2009 2019
Entrez Id: 857
Gene Symbol: CAV1
CAV1
caveolin 1 0.388 0.885 8.3E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.460 None 1.000 6 1 2008 2016
Entrez Id: 859
Gene Symbol: CAV3
CAV3
caveolin 3 0.564 0.692 5.5E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
electron transfer flavoprotein subunit alpha 0.508 0.731 2.9E-03
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 2010
Gene Symbol: EMD
EMD
emerin 0.542 0.731 0.93
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None < 0.001 1 0 2013 2013
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.040 None 0.750 4 0 2010 2014
Entrez Id: 2353
Gene Symbol: FOS
FOS
Fos proto-oncogene, AP-1 transcription factor subunit 0.411 0.885 0.26
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.310 None 1.000 1 0 2013 2013
Entrez Id: 2641
Gene Symbol: GCG
GCG
glucagon 0.431 0.885 3.5E-02
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 2617
Gene Symbol: GARS1
GARS1
glycyl-tRNA synthetase 1 0.623 0.500 0.31
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.020 None 1.000 2 0 2004 2007
Entrez Id: 3002
Gene Symbol: GZMB
GZMB
granzyme B 0.453 0.808 3.7E-14
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 2999
Gene Symbol: GZMH
GZMH
granzyme H 0.780 0.346 1.3E-07
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.040 None 1.000 4 0 2008 2019
Entrez Id: 2688
Gene Symbol: GH1
GH1
growth hormone 1 0.373 0.923 3.0E-02
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 1996 1996
Entrez Id: 3172
Gene Symbol: HNF4A
HNF4A
hepatocyte nuclear factor 4 alpha 0.461 0.808 0.15
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2000 2000