DisGeNET - a database of gene-disease associations

CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, C3807295

Variant: rs397509393 ×

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

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397509393

DNMT1

0.810

GeneticVariation

BEFREE

Two of these mutations, G589A and V590F, are associated with development of autosomal dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN).

31804802

2019

dbSNP:

rs397509393

DNMT1

0.810

GeneticVariation

UNIPROT

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy.

22328086

2012

dbSNP:

rs397509393

DNMT1

0.810

CausalMutation

CLINVAR