DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Gaucher Disease, Type 1 ×

Gene: GBA ×

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

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs421016

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.850

CausalMutation

CLINVAR

dbSNP:

rs421016

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.850

GeneticVariation

CLINVAR

dbSNP:

rs421016

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.850

GeneticVariation

UNIPROT

dbSNP:

rs364897

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.810

CausalMutation

CLINVAR

dbSNP:

rs121908314

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.810

CausalMutation

CLINVAR

dbSNP:

rs878853321

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs80356769

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs78396650

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs77829017

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs77369218

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs76539814

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs747506979

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs74598136

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs74500255

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs61748906

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs409652

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs409652

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs398123532

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs398123532

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs398123530

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs398123530

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR

dbSNP:

rs398123527

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs398123527

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

CLINVAR

dbSNP:

rs381418

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

GeneticVariation

UNIPROT

dbSNP:

rs381418

GBA

CUI:	C1961835
Disease:	Gaucher Disease, Type 1

Gaucher Disease, Type 1

0.800

CausalMutation

CLINVAR