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: C1527338
Disease: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type
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
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		0.100 GeneticVariation disease BEFREE Amplified DNA segments from 4 HCCAA patients of four different families were analyzed by nucleotide sequencing; the HCCAA-causing mutation in all families was found to be a single T----A substitution in the codon for amino acid residue 68 of cystatin C. 1352269 1992
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		0.100 AlteredExpression disease BEFREE This abnormal processing of the cystatin C could explain the low cerebrospinal fluid levels of cystatin C in HCCAA and might be a part of the pathogenetic pathway of amyloid deposition. 1517744 1992
CUI: C3839957
Disease: Hereditary cystatin C amyloid angiopathy
Hereditary cystatin C amyloid angiopathy 		0.100 AlteredExpression disease BEFREE This decreased CSF inhibitory capacity in HCCAA patients was caused by decreased levels of cystatin C, since the levels of the other two cysteine proteinase inhibitors found in CSF, alpha 2-macroglobulin and kininogen, were significantly higher than in CSF from non-HCCAA patients. 2315647 1990
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: 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.500 GeneticVariation group BEFREE A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis. 2541223 1989
CUI: C1510489
Disease: Cerebral Amyloid Angiopathy, Hereditary
Cerebral Amyloid Angiopathy, Hereditary 		0.390 GeneticVariation disease BEFREE To understand the molecular basis of the genetic defect, the gene encoding cystatin C was isolated from genomic DNA libraries made from normal tissue and the brain of an Icelandic patient with hereditary cerebral hemorrhage with amyloidosis (HCHWA-I). 2541223 1989
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.100 GeneticVariation disease BEFREE A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis. 2541223 1989
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.020 GeneticVariation disease BEFREE A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis. 2541223 1989