Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker GENOMICS_ENGLAND Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341

2017
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 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: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126

2012
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461

2006
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker CTD_human