CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Myoclonic Epilepsies, Progressive ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796943858
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Cystatin B and its EPM1 mutants are polymeric and aggregate prone in vivo. 17920138 2008
dbSNP: rs796943858
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 15483648 2005
dbSNP: rs796943858
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 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
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 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
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Novel cystatin B mutation and diagnostic PCR assay in an Unverricht-Lundborg progressive myoclonus epilepsy patient. 9342192 1997