DisGeNET - a database of gene-disease associations

rs121908302, GBA

N. diseases: 2

Source: ALL

Results per page

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

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Gaucher Disease, Type 1

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

124

1.000

0.120

1

155240033

missense variant

C/A

snv

0.800

1.000

1990

2009

Hepatosplenomegaly

CUI:	C0019214
Disease:	Hepatosplenomegaly

21

1.000

0.120

1

155240033

missense variant

C/A

snv

0.700