Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.110 GeneticVariation BEFREE Congenital generalized lipodystrophy or Berardinelli-Seip syndrome, autosomal recessive, is characterized by a complete early lipoatrophy and severe insulin resistance and results, in most cases, from mutations either in the seipin gene of unknown function or AGPAT2 encoding an enzyme involved in triacylglycerol synthesis. 16246048

2005
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1280433
Disease: Lipoatrophy
Lipoatrophy 		0.110 Biomarker HPO