CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1527338
Disease:
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421 2010
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1527338
Disease:
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		0.810 GeneticVariation BEFREE However, the amyloid in HCHWA-I is made from a variant of cystatin C (L68Q) instead of the more common Abeta. 17963746 2007
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1527338
Disease:
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		0.810 GeneticVariation UNIPROT Hereditary cystatin C amyloid angiopathy: identification of the disease-causing mutation and specific diagnosis by polymerase chain reaction based analysis. 1352269 1992
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1527338
Disease:
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		0.810 GeneticVariation UNIPROT Stroke in Icelandic patients with hereditary amyloid angiopathy is related to a mutation in the cystatin C gene, an inhibitor of cysteine proteases. 2541223 1989
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1527338
Disease:
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		T 0.810 CausalMutation CLINVAR