DisGeNET - a database of gene-disease associations

Myoclonic Epilepsies, Progressive, C0751778

Variant: rs545986367 ×

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:

rs545986367

CSTB

0.700

CausalMutation

CLINVAR

CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia.

26843564

2016

dbSNP:

rs545986367

CSTB

0.700

CausalMutation

CLINVAR

Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.

15483648

2005

dbSNP:

rs545986367

CSTB

0.700

CausalMutation

CLINVAR

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

8596935

1996