Gene: SERPINI1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 Biomarker disease BEFREE Some of these regions are in close proximity to genes encoding essential proteins for neuronal functions and human neurodegenerative disorders such as epm2a (Lafora disease), serpini1 (familial encephalopathy with neuroserpin inclusion bodies) and il1rpl1 (mental retardation, X-linked 21). 30049290 2018
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GeneticVariation disease BEFREE Point mutations in the neuroserpin gene cause the autosomal dominant dementia familial encephalopathy with neuroserpin inclusion bodies or FENIB. 21115126 2011
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GeneticVariation disease BEFREE The dementia familial encephalopathy with neuroserpin inclusion bodies (FENIB) is caused by point mutations in the neuroserpin gene. 15291813 2004
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 Biomarker disease MGD Impaired explorative behavior and neophobia in genetically modified mice lacking or overexpressing the extracellular serine protease inhibitor neuroserpin. 12837630 2003
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 Biomarker disease GENOMICS_ENGLAND Association between conformational mutations in neuroserpin and onset and severity of dementia. 12103288 2002
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GeneticVariation disease BEFREE The serpinopathies include alpha(1)-antitrypsin (SERPINA1) deficiency and the newly characterized familial encephalopathy with neuroserpin inclusion bodies (FENIB) resulting from mutations in the neuroserpin (SERPINI1) gene. 12112652 2002
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GermlineCausalMutation disease ORPHANET Association between conformational mutations in neuroserpin and onset and severity of dementia. 12103288 2002
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 PosttranslationalModification disease BEFREE Mutations of three different genes-amyloid precursor protein (APP), presenilin 1 (PS-1), presenilin 2 (PS-2)-have been found in early-onset autosomal dominant forms of AD, of the human microtubule associated-protein tau gene (MAPT) in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17), of the BRI gene in familial British dementia, of the PI12 gene in familial encephalopathy with neuroserpin inclusion bodies. 11914409 2002
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GeneticVariation disease UNIPROT Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro. 11880376 2002
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 GeneticVariation disease UNIPROT Familial dementia caused by polymerization of mutant neuroserpin. 10517635 1999
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 CausalMutation disease CLINVAR
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1 		0.950 Biomarker disease CTD_human