CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Disease: Unverricht-Lundborg Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833443
rs386833443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.710 GeneticVariation BEFREE To overcome the pathogenic effect of the ULD splicing mutation c.66G>A (exon 1), we investigated whether an antisense oligonucleotide therapeutic strategy could correct the defect in patient cells. 30208654 2018
dbSNP: rs386833443
rs386833443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		T 0.710 GeneticVariation CLINVAR
dbSNP: rs386833443
rs386833443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		T 0.710 CausalMutation CLINVAR