DisGeNET - a database of gene-disease associations

rs421016, GBA

N. diseases: 30

Disease: Hepatosplenomegaly ×

Source: ALL

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Hepatosplenomegaly

CUI:	C0019214
Disease:	Hepatosplenomegaly

0.710

GeneticVariation

BEFREE

Six type 1 patients with L444P homozygous genotype, presented with early onset and severe hepatosplenomegaly.

2018

Hepatosplenomegaly

CUI:	C0019214
Disease:	Hepatosplenomegaly

0.710

GeneticVariation

CLINVAR

Hepatosplenomegaly

CUI:	C0019214
Disease:	Hepatosplenomegaly

0.710

GeneticVariation

CLINVAR