DisGeNET - a database of gene-disease associations

ATP2B3, ATPase plasma membrane Ca2+ transporting 3, 492

N. diseases: 72; N. variants: 6

Disease: SPINOCEREBELLAR ATAXIA, X-LINKED 1 ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0796205
Disease:	SPINOCEREBELLAR ATAXIA, X-LINKED 1

SPINOCEREBELLAR ATAXIA, X-LINKED 1

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

22912398

2012

CUI:	C0796205
Disease:	SPINOCEREBELLAR ATAXIA, X-LINKED 1

SPINOCEREBELLAR ATAXIA, X-LINKED 1

0.700

Biomarker

disease

CTD_human

CUI:	C0796205
Disease:	SPINOCEREBELLAR ATAXIA, X-LINKED 1

SPINOCEREBELLAR ATAXIA, X-LINKED 1

0.700

CausalMutation

disease

CLINVAR

CUI:	C0796205
Disease:	SPINOCEREBELLAR ATAXIA, X-LINKED 1

SPINOCEREBELLAR ATAXIA, X-LINKED 1

0.700

GeneticVariation

disease

UNIPROT

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

22912398

2012

CUI:	C0796205
Disease:	SPINOCEREBELLAR ATAXIA, X-LINKED 1

SPINOCEREBELLAR ATAXIA, X-LINKED 1

0.700

Biomarker

disease

GENOMICS_ENGLAND

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

22912398

2012