SERPINI1, serpin family I member 1, 5274

N. diseases: 58; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909051
rs121909051
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		0.800 GeneticVariation 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
dbSNP: rs121909051
rs121909051
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		0.800 GeneticVariation UNIPROT Familial dementia caused by polymerization of mutant neuroserpin. 10517635 1999
dbSNP: rs121909051
rs121909051
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		C 0.800 CausalMutation CLINVAR
dbSNP: rs121909052
rs121909052
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		G 0.700 CausalMutation CLINVAR
dbSNP: rs121909053
rs121909053
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909054
rs121909054
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C1858680
Disease:
Familial encephalopathy with neuroserpin inclusion bodies 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121909053
rs121909053
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C3494652
Disease:
Severe dementia 		0.010 GeneticVariation BEFREE The corresponding mutations in SERPINC1 (anti-thrombin III) at position 456 (Gly456Arg) and SERPINI1 (neuroserpin) at position 392 (Gly392Glu) caused an anti-thrombin deficiency and severe dementia due to intracellular retention of the polymers. 28229167 2017
dbSNP: rs11714980
rs11714980
Entrez Id: 5274;11235
Gene Symbol: SERPINI1;PDCD10
SERPINI1;PDCD10
CUI: C2919945
Disease:
Cavernous Hemangioma of Brain 		0.010 GeneticVariation BEFREE Our data indicated that rs9853967 and rs11714980 polymorphisms could be associated with a protective role in CCM disease. 27737651 2016
dbSNP: rs9853967
rs9853967
Entrez Id: 5274;11235
Gene Symbol: SERPINI1;PDCD10
SERPINI1;PDCD10
CUI: C2919945
Disease:
Cavernous Hemangioma of Brain 		0.010 GeneticVariation BEFREE Our data indicated that rs9853967 and rs11714980 polymorphisms could be associated with a protective role in CCM disease. 27737651 2016
dbSNP: rs6797312
rs6797312
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C0038454
Disease:
Cerebrovascular accident 		0.010 GeneticVariation BEFREE Race-specific haplotype analyses, inclusive of SNP rs6797312, again demonstrated significant associations with stroke among Caucasians only. 17961231 2007
dbSNP: rs121909053
rs121909053
Entrez Id: 5274
Gene Symbol: SERPINI1
SERPINI1
CUI: C0751778
Disease:
Myoclonic Epilepsies, Progressive 		0.010 GeneticVariation BEFREE By contrast, the most severely disruptive mutation (G392E) resulted, at age 13 years, in progressive myoclonus epilepsy, with many inclusions present in almost all neurons. 12103288 2002