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: rs545986367
rs545986367
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. 26843564 2016
dbSNP: rs545986367
rs545986367
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 15483648 2005
dbSNP: rs545986367
rs545986367
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		A 0.700 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935 1996