DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Lipodystrophy ×

Gene: AGPAT2 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

CUI:	C0023787
Disease:	Lipodystrophy

Lipodystrophy

0.700

Biomarker

GENOMICS_ENGLAND

Prevalence of mutations in AGPAT2 among human lipodystrophies.

2003

Entrez Id:	10555
Gene Symbol:	AGPAT2

AGPAT2

CUI:	C0023787
Disease:	Lipodystrophy

Lipodystrophy

0.700

Biomarker

GENOMICS_ENGLAND

AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34.

2002