Disease: Congenital Generalized Lipodystrophy Type 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Generalized Lipodystrophy Type 2
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
0.010 GeneticVariation BEFREE Heterozygosity for missense mutations (N88S/S90L) in BSCL2 (Berardinelli-Seip congenital lipodystrophy type 2)/Seipin is associated with a broad spectrum of motoneuron diseases. 23470542 2013