rs80358259, NPC1

N. diseases: 9
Disease: Impaired cognition ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE We report on a patient with adult-onset Niemann-Pick type C (NPC) disease, carrying the mutations P1007 and I1061T in the NPC1 gene, presenting with marked psychiatric changes followed by dystonia and cognitive impairment. 14639697 2003