Source: ALL

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: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 1.000 None 1.000 25 29 2001 2019
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2 		1-acylglycerol-3-phosphate O-acyltransferase 2 0.585 0.654 1.2E-07
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.320 None 1.000 2 0 2004 2007
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.200 None 1.000 1 0 2007 2007
Entrez Id: 100534595
Gene Symbol: HNRNPUL2-BSCL2
HNRNPUL2-BSCL2 		HNRNPUL2-BSCL2 readthrough (NMD candidate) 0.780 0.192
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.100 None 1.000 1 29 2002 2002
Entrez Id: 155
Gene Symbol: ADRB3
ADRB3 		adrenoceptor beta 3 0.533 0.731 2.5E-07
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.010 None 1.000 1 0 1997 1997
Entrez Id: 3002
Gene Symbol: GZMB
GZMB 		granzyme B 0.453 0.808 3.7E-14
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.010 None 1.000 1 0 2016 2016
Entrez Id: 4925
Gene Symbol: NUCB2
NUCB2 		nucleobindin 2 0.540 0.731 2.0E-10
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 57104
Gene Symbol: PNPLA2
PNPLA2 		patatin like phospholipase domain containing 2 0.511 0.846 4.1E-03
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ 		adiponectin, C1Q and collagen domain containing 0.376 0.885 4.6E-09
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 0.010 None 1.000 1 0 2016 2016