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
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
Hereditary Cerebral Amyloid Angiopathy, Icelandic Type 		0.770 CausalMutation disease CLINVAR
CUI: C2677774
Disease: Age-Related Macular Degeneration type 11
Age-Related Macular Degeneration type 11 		0.600 CausalMutation disease CLINVAR
CUI: C2677774
Disease: Age-Related Macular Degeneration type 11
Age-Related Macular Degeneration type 11 		0.600 Biomarker disease CTD_human
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.500 Biomarker group GENOMICS_ENGLAND
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.500 Biomarker group HPO
CUI: C0497327
Disease: Dementia
Dementia 		0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0497327
Disease: Dementia
Dementia 		0.460 Biomarker disease HPO
CUI: C0553692
Disease: Brain hemorrhage
Brain hemorrhage 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0085220
Disease: Cerebral Amyloid Angiopathy
Cerebral Amyloid Angiopathy 		0.170 Biomarker disease HPO
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.140 Biomarker disease HPO
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		0.110 Biomarker phenotype HPO
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		0.100 Biomarker group HPO
CUI: C1862968
Disease: Generalized amyloid deposition
Generalized amyloid deposition 		0.100 Biomarker phenotype HPO
CUI: C4022012
Disease: Death in early adulthood
Death in early adulthood 		0.100 Biomarker phenotype HPO
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		0.390 Biomarker disease BEFREE Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastroentero-pancreatic neuroendocrine protein, gamma trace. 6886625 1983
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		0.390 GeneticVariation disease BEFREE Hereditary cerebral amyloid angiopathy: the amyloid fibrils contain a protein which is a variant of cystatin C, an inhibitor of lysosomal cysteine proteases. 3707586 1986
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		0.390 GeneticVariation disease BEFREE Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of gamma-trace basic protein (cystatin C). 3517880 1986
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		0.390 Biomarker disease BEFREE This investigation demonstrates that hereditary cerebral hemorrhage with amyloidosis may be diagnosed by two laboratory methods: immunohistochemical investigation of cystatin C in brain tissue specimens and quantitation of cystatin C in cerebrospinal fluid. 2436360 1987
CUI: C2931784
Disease: Amyloid angiopathy
Amyloid angiopathy 		0.020 Biomarker disease BEFREE Hereditary cystatin C (gamma-trace) amyloid angiopathy of the CNS causing cerebral hemorrhage. 3673496 1987
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.400 Biomarker disease BEFREE In addition to some differences in the age at onset and in the distribution of the angiopathy, it has recently been demonstrated that the amyloid in our patients is constituted by a microprotein which shows a homology to the beta-protein in Alzheimer's disease and Down's syndrome, while the amyloid in Icelandic cases is formed by an aggregation of cystatin C (gamma trace). 3210024 1988
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		0.100 GeneticVariation disease BEFREE The Alu I marker has been used to show that this mutation is transmitted only in affected members of all eight families investigated, and that the mutated cystatin C gene causes HCCAA. 2900981 1988
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
CUI: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
CUI: C2677774
Disease: Age-Related Macular Degeneration type 11
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