DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Spinocerebellar Ataxia Type 1 ×

Gene: ATXN1 ×

Results per page

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	6310
Gene Symbol:	ATXN1

ATXN1

ataxin 1

0.534

0.769

0.97

CUI:	C0752120
Disease:	Spinocerebellar Ataxia Type 1

Spinocerebellar Ataxia Type 1

disease

1.000

None

0.983

0

1980

2020