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: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. 23205931 2012
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients. 17003839 2007
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene. 9360639 1997
dbSNP: rs147484110
rs147484110
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: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1). 9012407 1997
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		G 0.700 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935 1996