DisGeNET - a database of gene-disease associations

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4, C1846492

Gene: VPS13D ×

Source: UNIPROT ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs746736545

VPS13D

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1383958401

VPS13D

0.700

GeneticVariation

UNIPROT

Recessive mutations in VPS13D cause childhood onset movement disorders.

29518281

2018

dbSNP:

rs1383958401

VPS13D

0.700

GeneticVariation

UNIPROT

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

29604224

2018

dbSNP:

rs775845475

VPS13D

0.700

GeneticVariation

UNIPROT

Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects.

29604224

2018

dbSNP:

rs775845475

VPS13D

0.700

GeneticVariation

UNIPROT

Recessive mutations in VPS13D cause childhood onset movement disorders.

29518281

2018

dbSNP:

rs1191625571

VPS13D

0.700

GeneticVariation

UNIPROT

dbSNP:

rs768331333

VPS13D

0.700

GeneticVariation

UNIPROT