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: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 GeneticVariation BEFREE Whole exome sequencing (WES) of the patient genome identified a novel variant, homozygous for a 52 bp intronic deletion in the <i>AGPAT2</i> locus, coding for 1-acylglycerol-3-phosphate O-acyltransferase 2, which is uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. 30563316

2019
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker MGD Mogat1 deletion does not ameliorate hepatic steatosis in lipodystrophic (Agpat2-/-) or obese (ob/ob) mice. 26880786

2016
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 GeneticVariation BEFREE Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. 22902344

2012
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker GENOMICS_ENGLAND Identification of a novel nonsense mutation and a missense substitution in the AGPAT2 gene causing congenital generalized lipodystrophy type 1. 22902344

2012
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker MGD Molecular mechanisms of hepatic steatosis and insulin resistance in the AGPAT2-deficient mouse model of congenital generalized lipodystrophy. 19187773

2009
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 GeneticVariation BEFREE We have demonstrated four novel mutations of the BSCL2 and AGPAT2 genes responsible for Berardinelli-Seip syndrome and Brunzell syndrome (AGPAT2-related syndrome). 19226263

2009
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 GeneticVariation UNIPROT Enzymatic activity of naturally occurring 1-acylglycerol-3-phosphate-O-acyltransferase 2 mutants associated with congenital generalized lipodystrophy. 15629135

2005
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 GeneticVariation UNIPROT AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 11967537

2002
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker GENOMICS_ENGLAND AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. 11967537

2002
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker CTD_human

Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 Biomarker GENOMICS_ENGLAND

Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
CUI: C1720862
Disease: Congenital Generalized Lipodystrophy Type 1
Congenital Generalized Lipodystrophy Type 1 		0.930 CausalMutation CLINVAR