PSEN1, presenilin 1, 5663

N. diseases: 369; N. variants: 155
Disease: ACNE INVERSA, FAMILIAL, 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder. 29316780 2018
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease. 27793474 2017
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases. 28350801 2017
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. 27073747 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series. 27777022 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. 27206484 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. 26923592 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. 27100200 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. 27100199 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD. 27014058 2016
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease. 26194182 2015
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation. 25471389 2015
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Mutation analysis of patients with neurodegenerative disorders using NeuroX array. 25174650 2015
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. 25741723 2015
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR APP metabolism regulates tau proteostasis in human cerebral cortex neurons. 25921538 2015
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. 24011544 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells. 24217025 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. 24773620 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Disease-related mutations among Caribbean Hispanics with familial dementia. 25333068 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP. 24418614 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. 24880964 2014
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia. 23114514 2013
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. 23843529 2013
CUI: C3151038
Disease: ACNE INVERSA, FAMILIAL, 3
ACNE INVERSA, FAMILIAL, 3 		0.400 CausalMutation disease CLINVAR Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families. 22312439 2012