Source: CLINVAR

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 1 27 2001 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C2931276
Disease: Spastic paraplegia 17
Spastic paraplegia 17 		disease 0.800 None 1.000 3 2 2001 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1833308
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V 		disease 0.760 None 1.000 0 2 2000 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C4014700
Disease: ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY
ENCEPHALOPATHY, PROGRESSIVE, WITH OR WITHOUT LIPODYSTROPHY 		disease 0.720 None 1.000 0 3 2004 2019
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 0 1 2001 2019
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		disease 0.120 None 1.000 18 5 2004 2016
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C3888631
Disease: Monogenic diabetes
Monogenic diabetes 		disease 0.100 None 1.000 1 1 2012 2012
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1720861
Disease: Familial Partial Lipodystrophy, Type 3
Familial Partial Lipodystrophy, Type 3 		disease 0.100 None 0 1
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		disease 0.100 None 0 1
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1866141
Disease: Foot dorsiflexor weakness
Foot dorsiflexor weakness 		phenotype 0.100 None 0 1