SERPINI1, serpin family I member 1, 5274

N. diseases: 58; N. variants: 7
Disease: Severe dementia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3494652
Disease: Severe dementia
Severe dementia 		0.010 GeneticVariation disease 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