rs28939068, CST3

N. diseases: 9
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.810 CausalMutation CLINVAR