Disease: Familial generalized lipodystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial generalized lipodystrophy
CUI: C0221032
Disease: Familial generalized lipodystrophy
0.010 GeneticVariation BEFREE After refining the critical region to 1 Mb, we sequenced the gene Berardinelli-Seip congenital lipodystrophy (BSCL2) and identified two heterozygous missense mutations resulting in the amino acid substitutions N88S and S90L. 14981520 2004