DisGeNET - a database of gene-disease associations

rs121908311, GBA

N. diseases: 5

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

0.827

0.120

1

155235823

missense variant

C/T

snv

1.6E-05

7.0E-06

0.800

1.000

1990

2009

Gaucher Disease

CUI:	C0017205
Disease:	Gaucher Disease

82

0.827

0.120

1

155235823

missense variant

C/T

snv

1.6E-05

7.0E-06

0.700

1.000

2000

2011

Gaucher Disease, Type 2 (disorder)

CUI:	C0268250
Disease:	Gaucher Disease, Type 2 (disorder)

34

0.827

0.120

1

155235823

missense variant

C/T

snv

1.6E-05

7.0E-06

0.700

Gaucher Disease, Type 3 (disorder)

CUI:	C0268251
Disease:	Gaucher Disease, Type 3 (disorder)

26

0.827

0.120

1

155235823

missense variant

C/T

snv

1.6E-05

7.0E-06

0.700

Gaucher Disease, Type Iiic

CUI:	C1856476
Disease:	Gaucher Disease, Type Iiic

19

0.827

0.120

1

155235823

missense variant

C/T

snv

1.6E-05

7.0E-06

0.700