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: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.700 strong 0.971 31 3 2001 2019
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: 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: 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: 5468
Gene Symbol: PPARG
PPARG
peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.320 None 1.000 2 0 2003 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: 4000
Gene Symbol: LMNA
LMNA
lamin A/C 0.384 0.885 1.00
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.190 None 1.000 9 4 2003 2020
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
zinc metallopeptidase STE24 0.517 0.731 8.9E-16
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.130 None 1.000 3 1 2003 2014
Entrez Id: 3952
Gene Symbol: LEP
LEP
leptin 0.349 0.846 0.46
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.100 None 1.000 10 0 1999 2020
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: 3643
Gene Symbol: INSR
INSR
insulin receptor 0.432 0.846 3.6E-05
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.040 None 1.000 4 0 1988 2015
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: 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: 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: 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: 50964
Gene Symbol: SOST
SOST
sclerostin 0.474 0.808 0.87
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
microfibril associated protein 1 0.431 0.846 0.80
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
phosphate cytidylyltransferase 1, choline, alpha 0.485 0.885 2.0E-05
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4143
Gene Symbol: MAT1A
MAT1A
methionine adenosyltransferase 1A 0.582 0.577 8.1E-04
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 4582
Gene Symbol: MUC1
MUC1
mucin 1, cell surface associated 0.384 0.885 1.9E-02
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018
Entrez Id: 9663
Gene Symbol: LPIN2
LPIN2
lipin 2 0.628 0.615 5.0E-05
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2015 2015
Entrez Id: 5346
Gene Symbol: PLIN1
PLIN1
perilipin 1 0.590 0.654 3.1E-11
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: 6514
Gene Symbol: SLC2A2
SLC2A2
solute carrier family 2 member 2 0.572 0.692 3.4E-08
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2013 2013
Entrez Id: 8773
Gene Symbol: SNAP23
SNAP23
synaptosome associated protein 23 0.686 0.423 0.92
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy
disease 0.010 None 1.000 1 0 2018 2018