DisGeNET - a database of gene-disease associations

Gene: ABHD5 ×

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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:	51099
Gene Symbol:	ABHD5

ABHD5

CUI:	C0268238
Disease:	Triglyceride storage disease with ichthyosis

Triglyceride storage disease with ichthyosis

1.000

Biomarker

MGD

This mechanism may also underlie the pathogenesis of ichthyosis in neutral lipid storage disease patients lacking functional CGI-58.

2010