CSTB, cystatin B, 1476

N. diseases: 155; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.810 GeneticVariation BEFREE The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1. 9012407 1997
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.810 GeneticVariation UNIPROT The 426G-->C change in exon 1 results in a Gly4Arg substitution and is the first missense mutation described that is associated with EPM1. 9012407 1997
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs74315443
rs74315443
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		G 0.810 CausalMutation CLINVAR
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: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. 26843564 2016
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Human stefin B normal and patho-physiological role: molecular and cellular aspects of amyloid-type aggregation of certain EPM1 mutants. 22936898 2012
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		0.710 GeneticVariation BEFREE Patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations seem to have a severer form of EPM1 than patients homozygous for the expansion mutation. 21757863 2011
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR We describe the clinical, cognitive and imaging characteristics of 5 Finnish EPM1 patients who are compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutations. 21757863 2011
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Intracellular aggregation of human stefin B: confocal and electron microscopy study. 20078424 2010
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Size and morphology of toxic oligomers of amyloidogenic proteins: a case study of human stefin B. 18925453 2008
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Molecular background of EPM1-Unverricht-Lundborg disease. 18028412 2008
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations. 15483648 2005
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR In vitro study of stability and amyloid-fibril formation of two mutants of human stefin B (cystatin B) occurring in patients with EPM1. 16155205 2005
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Univerricht-Lundborg disease: underdiagnosed in the Netherlands. 15329070 2004
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 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: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0751785
Disease:
Unverricht-Lundborg Syndrome 		A 0.710 CausalMutation CLINVAR Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) 8596935 1996
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
dbSNP: rs74315442
rs74315442
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0376532
Disease:
Epilepsy, Rolandic 		A 0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 GeneticVariation CLINVAR Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 28378817 2017
dbSNP: rs147484110
rs147484110
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0432072
Disease:
Dysmorphic features 		G 0.700 GeneticVariation CLINVAR Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 28378817 2017
dbSNP: rs545986367
rs545986367
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 CausalMutation CLINVAR Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 28378817 2017
dbSNP: rs545986367
rs545986367
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 28378817 2017
dbSNP: rs796943858
rs796943858
Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C0026827
Disease:
Muscle hypotonia 		G 0.700 CausalMutation CLINVAR Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. 28378817 2017