Disease: Congenital Generalized Lipodystrophy Type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.320 Biomarker disease BEFREE Sequences of each exon and nearby intron of the BSCL2 and AGPAT2 genes of the family members were compared with the gene bank genomic sequences. 18057387 2007
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.320 GeneticVariation disease BEFREE In summary, mutations in AGPAT2 and Gng3lg are approximately equally represented in CGL; despite harboring the same Gng3lg mutation, subjects may have widely divergent clinical manifestations, suggesting modifying influences of other genes and/or environment; and Brunzell syndrome may be caused by a mutation in AGPAT2. 15181077 2004
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		0.320 Biomarker disease CTD_human