Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
Congenital Generalized Lipodystrophy Type 2
0.320 Biomarker CTD_human

Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
Congenital Generalized Lipodystrophy Type 2
0.320 GeneticVariation 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

Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
Congenital Generalized Lipodystrophy Type 2
0.320 Biomarker 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