CST3, cystatin C, 1471

N. diseases: 370; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Proinflammatory response induced by the ex vivo mutant cystatin C protein aggregates suggests that vascular inflammation plays an important role in hereditary cerebral hemorrhage with amyloidosis-Icelandic type. 23273574 2013
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease CTD_human A drastic reduction in the life span of cystatin C L68Q carriers due to life-style changes during the last two centuries. 18566660 2008
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE To evaluate possible cytotoxicity in this condition solubilized cystatin C amyloid extracted from HCHWA-I leptomeninges was applied to cerebral smooth muscle cells in culture and was found to kill the cells. 17963746 2007
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE A variant of the cysteine protease inhibitor, cystatin C, forms amyloid deposited in the cerebral vasculature of patients with hereditary cerebral hemorrhage with amyloidosis, Icelandic type (HCHWA-I), leading to cerebral hemorrhages early in life. 16612983 2006
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Distinct properties of wild-type and the amyloidogenic human cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. 11299325 2001
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE The protein, a mutant of the cysteine protease inhibitor cystatin C, is the amyloid precursor protein in Hereditary Cerebral Hemorrhage with Amyloidosis--Icelandic type (HCHWA-I). 10524281 1999
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease BEFREE Instability of the amyloidogenic cystatin C variant of hereditary cerebral hemorrhage with amyloidosis, Icelandic type. 9565605 1998
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease GENOMICS_ENGLAND Cystatin C mutation in an elderly man with sporadic amyloid angiopathy and intracerebral hemorrhage. 7482672 1995
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 Biomarker disease BEFREE Cystatin-C is an amyloidogenic protein causing hereditary cerebral haemorrhage with amyloidosis-Icelandic type (HCHWA-I). 8361651 1993
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 GeneticVariation disease 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
0.770 GermlineCausalMutation disease ORPHANET 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
0.770 GeneticVariation disease 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
0.770 Biomarker disease GENOMICS_ENGLAND Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C. 3495457 1987
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
0.770 CausalMutation disease CLINVAR
Age-Related Macular Degeneration type 11
0.600 GeneticVariation disease UNIPROT Enrichment of glycopeptides for glycan structure and attachment site identification. 19838169 2009
Age-Related Macular Degeneration type 11
0.600 GeneticVariation disease UNIPROT CST3 genotype associated with exudative age related macular degeneration. 11815350 2002
Age-Related Macular Degeneration type 11
0.600 GeneticVariation disease UNIPROT The human cystatin C gene (CST3) is a member of the cystatin gene family which is localized on chromosome 20. 2764935 1989
Age-Related Macular Degeneration type 11
0.600 CausalMutation disease CLINVAR
Age-Related Macular Degeneration type 11
0.600 Biomarker disease CTD_human
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 AlteredExpression group BEFREE This prospective observational study investigated the correlation between serum CysC levels and post-stroke cognitive dysfunction at 3 months. 31719258 2020
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 AlteredExpression group BEFREE Taken together, these data unveil a new mechanism of the regulation of caveolin-1 expression by cystatin C in the maintenance of BBB integrity after ischemic brain injury and provide new clues for the identification of potential therapeutic strategies for stroke. 31603990 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group BEFREE We have previously reported that Cystatin C (CysC) is a pivotal mediator in the neuroprotection induced by hyperbaric oxygen (HBO) preconditioning; however, the underlying mechanism and how CysC changes after stroke are not clear. 30519802 2019
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group BEFREE No associations were observed between CysC and stroke after additional adjustment for confounding variables. 30398035 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 AlteredExpression group BEFREE Increased expression levels of CysC were detected in the regenerating brain of mice after stroke. 29722001 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.500 Biomarker group BEFREE Moreover, HBO-induced endogenous CysC elevation preserved lysosomal membrane integrity after stroke in wild-type rats but not in CysC siRNA infusion or CysC<sup>-</sup><sup>/-</sup> rats. 27999137 2017