Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.410 Biomarker GENOMICS_ENGLAND Whole exome sequencing revealed a novel PSEN1 mutation and segregation within the family demonstrated the mutation arose de novo.We suggest considering PSEN1 mutations in cases of dystonia-parkinsonism with positive DAT-Scan, later complicated by progressive cognitive decline and cortical myoclonus even without a dominant family history. 28664294

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.410 Biomarker GENOMICS_ENGLAND Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161

2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0013421
Disease: Dystonia
Dystonia 		0.410 Biomarker GENOMICS_ENGLAND