PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: Cardiomyopathy, Dilated, 1u ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease GENOMICS_ENGLAND Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutation. 28664294 2017
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation disease UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease GENOMICS_ENGLAND Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. 22503161 2012
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease GENOMICS_ENGLAND The genetics of Alzheimer disease. 23028126 2012
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation disease UNIPROT Mutations of presenilin genes in dilated cardiomyopathy and heart failure. 17186461 2006
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 GeneticVariation disease CLINVAR
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 Biomarker disease CTD_human
CUI: C3160720
Disease: Cardiomyopathy, Dilated, 1u
Cardiomyopathy, Dilated, 1u 		0.700 CausalMutation disease CLINVAR