DisGeNET - a database of gene-disease associations

HMGCS2, 3-hydroxy-3-methylglutaryl-CoA synthase 2, 3158

N. diseases: 52; N. variants: 9

Disease: Hepatomegaly ×

Source: ALL

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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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0019209
Disease:	Hepatomegaly

Hepatomegaly

0.300

Biomarker

phenotype

RGD

Two-dimensional electrophoresis of liver proteins: characterization of a drug-induced hepatomegaly in rats.

2000

CUI:	C0019209
Disease:	Hepatomegaly

Hepatomegaly

0.300

Biomarker

phenotype

HPO