DisGeNET - a database of gene-disease associations

Myoclonic Epilepsies, Progressive, C0751778

Variant: rs796943858 ×

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:

rs796943858

CSTB

0.700

CausalMutation

CLINVAR

Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo.

17920138

2008

dbSNP:

rs796943858

CSTB

0.700

CausalMutation

CLINVAR

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

15483648

2005

dbSNP:

rs796943858

CSTB

0.700

CausalMutation

CLINVAR

Importance of the second binding loop and the C-terminal end of cystatin B (stefin B) for inhibition of cysteine proteinases.

10441148

1999

dbSNP:

rs796943858

CSTB

0.700

CausalMutation

CLINVAR

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.

9054946

1997

dbSNP:

rs796943858

CSTB

0.700

CausalMutation

CLINVAR

Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient.

9342192

1997