CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
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
dbSNP: rs1064039
rs1064039
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C2677774
Disease:
Age-Related Macular Degeneration type 11
0.800 GeneticVariation UNIPROT
dbSNP: rs1064039
rs1064039
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C2677774
Disease:
Age-Related Macular Degeneration type 11
T 0.800 CausalMutation CLINVAR
dbSNP: rs71334202
rs71334202
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C2985280
Disease:
Blood Protein Measurement
A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs6036478
rs6036478
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1619716
Disease:
Cystatin C measurement
A 0.700 GeneticVariation GWASCAT Connecting genetic risk to disease end points through the human blood plasma proteome. 28240269 2017
dbSNP: rs35610040
rs35610040
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C0948089
Disease:
Acute Coronary Syndrome
G 0.700 GeneticVariation GWASCAT Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study. 24952865 2014
dbSNP: rs35610040
rs35610040
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1619716
Disease:
Cystatin C measurement
G 0.700 GeneticVariation GWASCAT Polymorphism of the cystatin C gene in patients with acute coronary syndromes: Results from the PLATelet inhibition and patient Outcomes study. 24952865 2014
dbSNP: rs911119
rs911119
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.700 GeneticVariation GWASDB New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs911119
rs911119
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C0022661
Disease:
Kidney Failure, Chronic
0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs911119
rs911119
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C1619716
Disease:
Cystatin C measurement
0.700 GeneticVariation GWASCAT New loci associated with kidney function and chronic kidney disease. 20383146 2010
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE One of rather atypical, occurring at a young age amyloidosis is hereditary cystatin C amyloid angiopathy (HCCAA) related to aggregation of L68Q variant of human cystatin C (hCC). 29205549 2018
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE Hereditary cystatin C amyloid angiopathy is an autosomal dominant disorder in which a variant form of cystatin C (L68Q) readily forms amyloid deposits in cerebral arteries in affected individuals resulting in early death. 24500719 2014
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE Clones overexpressing the two variants showed increased secreted levels of cystatin C. Within the cells the L68Q variant appeared to mainly localise to the endoplasmic reticulum rather than to acidic vesicular organelles, indicating limitations in the transport out from the cell rather than increased uptake as explanation for the elevated cellular cystatin levels seen in hereditary cystatin C amyloid angiopathy. 20800088 2010
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases, such as cathepsins S, B, and K. The same mutation in cystatin C, L68Q, has been found in all patients examined so far pointing to a common founder. 16612982 2006
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE In order to test this hypothesis, we used matrix-assisted laser desorption ionization time-of-flight mass spectrometry in an effort to demonstrate the presence of L68Q- along with wildtype cystatin C in plasma and cerebrospinal fluid (CSF) of HCCAA-patients. 11293820 2001
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE The development of HCCAA is directly linked to a Leu-68-->Gln (L68Q</span>) mutation in the cystatin C protein sequence. 9445375 1998
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE The resulting intracellular accumulation and increased localised concentration of L68Q cystatin C might be an important event in the molecular pathophysiology of amyloid formation and brain haemorrhage in patients with HCCAA. 10193512 1998
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE The state of denaturation of L68Q cystatin C in vivo is thus a critical factor for the concentration of active cysteine proteinase inhibitor in cerebrospinal fluid and likely also for the development of amyloidosis, in HCCAA patients. 9860845 1998
dbSNP: rs28939068
rs28939068
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C3839957
Disease:
Hereditary cystatin C amyloid angiopathy
0.090 GeneticVariation BEFREE These properties of L68Q-cystatin C have bearing upon our understanding of the pathophysiological process of hereditary cystatin C amyloid angiopathy. 8108423 1994
dbSNP: rs1064039
rs1064039
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE Here, we strengthen the evidence that an nsSNP (p.Ala25Thr) in the cysteine proteinase inhibitor cystatin C gene CST3, previously confirmed by meta-analysis to be associated with AD, is associated with exudative AMD. 25893795 2015
dbSNP: rs1064039
rs1064039
Entrez Id: 1471
Gene Symbol: CST3
CST3
CUI: C0002395
Disease:
Alzheimer's Disease
0.040 GeneticVariation BEFREE The CST3 G73A polymorphism is associated with AD in Caucasian populations, but not in Asians. 22435454 2012