DisGeNET - a database of gene-disease associations

UBA5, ubiquitin like modifier activating enzyme 5, 79876

N. diseases: 150; N. variants: 16

Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 ×

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:	C4310699
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

0.600

GeneticVariation

disease

UNIPROT

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia.

26872069

2016

CUI:	C4310699
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

0.600

CausalMutation

disease

CLINVAR

CUI:	C4310699
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

0.600

GeneticVariation

disease

CLINVAR

CUI:	C4310699
Disease:	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24

0.600

Biomarker

disease

GENOMICS_ENGLAND